#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
NOC2L	26155	broad.mit.edu	37	1	892328	892328	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:892328C>G	ENST00000327044.6	-	4	481	c.432G>C	c.(430-432)aaG>aaC	p.K144N	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	144					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAACAGAATTCTTCTTCCCCT	0.592																																						uc001abz.3		NaN																	0				ovary(1)|skin(1)	2						c.(430-432)AAG>AAC		nucleolar complex associated 2 homolog							161.0	162.0	162.0					1																	892328		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:892328C>G	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.432G>C	1.37:g.892328C>G	ENSP00000317992:p.Lys144Asn					NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.K144N	p.K144N	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	491	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	144					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.432G>C	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849724	0.32699	.	.	ENSG00000188976	ENST00000327044	T	0.25085	1.82	4.09	0.903	0.19296	.	0.962793	0.08608	N	0.920405	T	0.32255	0.0823	M	0.83603	2.65	0.09310	N	1	P;P	0.41313	0.745;0.745	B;B	0.41088	0.347;0.347	T	0.24225	-1.0166	10	0.30854	T	0.27	-14.4725	7.0726	0.25187	0.0:0.4691:0.0:0.5309	.	144;144	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	N	144	ENSP00000317992:K144N	ENSP00000317992:K144N	K	-	3	2	NOC2L	882191	0.368000	0.25031	0.132000	0.22025	0.050000	0.14768	0.861000	0.27885	0.334000	0.23590	-0.161000	0.13427	AAG		0.592	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1		NM_015658		72	124	0	0	0	0.01441	0	72	124		
PLEKHN1	84069	broad.mit.edu	37	1	906303	906303	+	Missense_Mutation	SNP	G	G	C	rs373281590		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:906303G>C	ENST00000379409.2	+	5	679	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.E177Q|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E177Q			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	217	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGCCGGGCCGAGCTGGACCG	0.726																																						uc001ace.2		NaN																	0					0						c.(649-651)GAG>CAG		pleckstrin homology domain containing, family N							11.0	15.0	14.0					1																	906303		2127	4218	6345	SO:0001583	missense	84069							g.chr1:906303G>C	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.649G>C	1.37:g.906303G>C	ENSP00000368719:p.Glu217Gln					PLEKHN1_uc001acd.2_Missense_Mutation_p.E177Q|PLEKHN1_uc001acf.2_Missense_Mutation_p.E177Q	p.E217Q	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	684	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	217			PH 1.		Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.649G>C		.	.	.	.	.	.	.	.	.	.	G	16.02	3.003307	0.54254	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.59906	0.58;0.58;0.23	4.74	4.74	0.60224	Pleckstrin homology domain (1);	0.000000	0.64402	D	0.000001	T	0.71525	0.3350	L	0.59436	1.845	0.51482	D	0.99992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72130	-0.4383	10	0.49607	T	0.09	.	14.567	0.68185	0.0:0.0:1.0:0.0	.	177;217;177	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	Q	177;177;217	ENSP00000368720:E177Q;ENSP00000368717:E177Q;ENSP00000368719:E217Q	ENSP00000368717:E177Q	E	+	1	0	PLEKHN1	896166	0.988000	0.35896	0.975000	0.42487	0.307000	0.27823	3.315000	0.51951	2.471000	0.83476	0.448000	0.29417	GAG		0.726	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1		NM_032129		17	11	0	0	0	0.006122	0	17	11		
TTLL10	254173	broad.mit.edu	37	1	1117193	1117193	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:1117193G>T	ENST00000379290.1	+	9	1001	c.828G>T	c.(826-828)caG>caT	p.Q276H	TTLL10_ENST00000379288.3_Missense_Mutation_p.Q203H|TTLL10_ENST00000379289.1_Missense_Mutation_p.Q276H|TTLL10-AS1_ENST00000379317.1_RNA			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	276	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAGGCCACAGAGGTAGACTC	0.637																																						uc001acy.2		NaN																	0				large_intestine(1)	1						c.(826-828)CAG>CAT		tubulin tyrosine ligase-like family, member 10							36.0	31.0	33.0					1																	1117193		2197	4290	6487	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1117193G>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.828G>T	1.37:g.1117193G>T	ENSP00000368592:p.Gln276His					uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.Q276H|TTLL10_uc001acz.1_Missense_Mutation_p.Q203H	p.Q276H	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	9	979	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	276			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.828G>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.547975	0.13312	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.14640	3.34;3.34;2.49	2.71	-0.518	0.11943	.	3.111190	0.01234	U	0.008420	T	0.11239	0.0274	L	0.33485	1.01	0.80722	D	1	B;B	0.27853	0.04;0.191	B;B	0.30401	0.027;0.115	T	0.23691	-1.0181	10	0.44086	T	0.13	.	1.3146	0.02104	0.1377:0.2197:0.4179:0.2247	.	203;276	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	H	276;276;203	ENSP00000368592:Q276H;ENSP00000368591:Q276H;ENSP00000368590:Q203H	ENSP00000368590:Q203H	Q	+	3	2	TTLL10	1107056	0.080000	0.21391	0.003000	0.11579	0.301000	0.27625	0.446000	0.21694	-0.087000	0.12528	-0.518000	0.04402	CAG		0.637	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3		NM_153254		10	13	1	0	2.52707e-12	0.006214	2.69921e-12	10	13		
CELA2B	51032	broad.mit.edu	37	1	15809801	15809801	+	Silent	SNP	C	C	T	rs200820219		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:15809801C>T	ENST00000375910.3	+	5	424	c.399C>T	c.(397-399)ctC>ctT	p.L133L	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CCGTCTCCCTCACCGACAAGA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19885	0.0		0.0	False		,,,				2504	0.0					uc001awl.2		NaN																	0				ovary(1)	1						c.(397-399)CTC>CTT		elastase 2B preproprotein							172.0	128.0	143.0					1																	15809801		2203	4297	6500	SO:0001819	synonymous_variant	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15809801C>T		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.399C>T	1.37:g.15809801C>T							p.L133L	NM_015849	NP_056933	P08218	CEL2B_HUMAN			5	424	+			133			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Silent	SNP	ENST00000375910.3	37	c.399C>T	CCDS30605.1																																																																																				0.602	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1		NM_015849		32	42	0	0	0	0.004878	0	32	42		
CASP9	842	broad.mit.edu	37	1	15821948	15821948	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:15821948C>G	ENST00000333868.5	-	7	963		c.e7-1		CASP9_ENST00000375890.4_Splice_Site|CASP9_ENST00000546424.1_Splice_Site|CASP9_ENST00000348549.5_Splice_Site	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TCTTTCTGCTCTGCAGGAAGC	0.488																																						uc001awn.2		NaN																	0				central_nervous_system(1)|kidney(1)	2						c.e7-1		caspase 9 isoform alpha preproprotein							37.0	31.0	33.0					1																	15821948		2203	4300	6503	SO:0001630	splice_region_variant	842				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding	g.chr1:15821948C>G	U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.869-1G>C	1.37:g.15821948C>G						CASP9_uc001awm.1_Splice_Site_p.E290_splice|CASP9_uc001awo.2_Splice_Site_p.E140_splice|CASP9_uc001awp.2_Splice_Site_p.E134_splice|CASP9_uc009voi.2_Splice_Site_p.E134_splice|CASP9_uc010obm.1_Splice_Site_p.E207_splice|CASP9_uc001awq.2_Splice_Site_p.E207_splice	p.E290_splice	NM_001229	NP_001220	P55211	CASP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)	7	964	-		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)						B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Splice_Site	SNP	ENST00000333868.5	37	c.869_splice	CCDS158.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934018	0.73442	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9902	0.80199	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASP9	15694535	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.572000	0.74005	2.440000	0.82611	0.561000	0.74099	.		0.488	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006438.1		NM_032996	Intron	5	14	0	0	0	0.001168	0	5	14		
SPEN	23013	broad.mit.edu	37	1	16258553	16258553	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16258553G>A	ENST00000375759.3	+	11	6022	c.5818G>A	c.(5818-5820)Gag>Aag	p.E1940K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1940					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGCTTCAGGAGGCTGCAGC	0.587																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(5818-5820)GAG>AAG		spen homolog, transcriptional regulator							47.0	52.0	50.0					1																	16258553		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258553G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5818G>A	1.37:g.16258553G>A	ENSP00000364912:p.Glu1940Lys					SPEN_uc010obp.1_Missense_Mutation_p.E1899K	p.E1940K	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6022	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1940			Potential.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5818G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616434	0.46736	.	.	ENSG00000065526	ENST00000375759	T	0.11063	2.81	4.8	4.8	0.61643	.	.	.	.	.	T	0.28433	0.0703	L	0.60455	1.87	0.36194	D	0.850255	P	0.52842	0.956	D	0.65010	0.931	T	0.10154	-1.0642	9	0.31617	T	0.26	-18.3672	18.1997	0.89834	0.0:0.0:1.0:0.0	.	1940	Q96T58	MINT_HUMAN	K	1940	ENSP00000364912:E1940K	ENSP00000364912:E1940K	E	+	1	0	SPEN	16131140	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	5.574000	0.67424	2.372000	0.80975	0.313000	0.20887	GAG		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		18	73	0	0	0	0.010504	0	18	73		
NBPF1	55672	broad.mit.edu	37	1	16891403	16891403	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:16891403C>G	ENST00000430580.2	-	28	3962	c.3075G>C	c.(3073-3075)aaG>aaC	p.K1025N		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1025	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ccttccccttcttTTCAATTT	0.443																																						uc009vos.1		NaN																	0					0						c.(3298-3300)AAG>AAC		hypothetical protein LOC55672							12.0	7.0	10.0					1																	16891403		588	543	1131	SO:0001583	missense	55672					cytoplasm		g.chr1:16891403C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3075G>C	1.37:g.16891403C>G	ENSP00000474456:p.Lys1025Asn					uc001ayw.2_5'Flank	p.K1100N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4188	-			1100			NBPF 7.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3300G>C																																																																																					0.443	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3		NM_017940		5	600	0	0	0	0.00245	0	5	600		
EIF4G3	8672	broad.mit.edu	37	1	21268770	21268770	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:21268770G>A	ENST00000264211.8	-	8	903	c.709C>T	c.(709-711)Cta>Tta	p.L237L	EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Silent_p.L237L|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Silent_p.L248L|EIF4G3_ENST00000602326.1_Silent_p.L243L|EIF4G3_ENST00000400422.1_Silent_p.L237L|EIF4G3_ENST00000374937.3_Silent_p.L243L|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	237					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L237L(1)|p.L243L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGAGGACTAGCCTAAGGACT	0.438																																						uc001bec.2		NaN																	2	Substitution - coding silent(2)		large_intestine(2)	skin(1)	1						c.(709-711)CTA>TTA		eukaryotic translation initiation factor 4							121.0	130.0	127.0					1																	21268770		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268770G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.709C>T	1.37:g.21268770G>A						EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Silent_p.L236L|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.L237L|EIF4G3_uc001bef.2_Silent_p.L236L|EIF4G3_uc001bee.2_Silent_p.L243L|EIF4G3_uc001beg.2_Silent_p.L236L|EIF4G3_uc010odk.1_Silent_p.L237L|EIF4G3_uc001beh.2_Silent_p.L248L	p.L237L	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	9	965	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	237					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.709C>T	CCDS214.1																																																																																				0.438	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		27	108	0	0	0	0.00632	0	27	108		
HSPG2	3339	broad.mit.edu	37	1	22178283	22178283	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:22178283C>T	ENST00000374695.3	-	54	7086		c.e54+1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						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)	GCCCCACTCACGGTAGGCTAA	0.637																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9	GRCh37	CS065567	HSPG2	S		c.e54+1		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						60.0	67.0	65.0					1																	22178283		2203	4300	6503	SO:0001630	splice_region_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22178283C>T	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.7006+1G>A	1.37:g.22178283C>T						HSPG2_uc009vqd.2_Splice_Site_p.P2337_splice	p.P2336_splice	NM_005529	NP_005520	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)	54	7046	-		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)						Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	ENST00000374695.3	37	c.7006_splice	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260469	0.80246	.	.	ENSG00000142798	ENST00000374695	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2199	0.86954	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22050870	0.997000	0.39634	1.000000	0.80357	0.942000	0.58702	1.862000	0.39448	2.667000	0.90743	0.561000	0.74099	.		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529	Intron	33	39	0	0	0	0.003755	0	33	39		
C1QB	713	broad.mit.edu	37	1	22987517	22987517	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:22987517C>T	ENST00000314933.6	+	3	532	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	C1QB_ENST00000509305.1_Silent_p.L132L	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	134	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAACGTCCCCCTGCGCCGGGA	0.602																																						uc001bgd.2		NaN																	0				breast(1)	1						c.(400-402)CTG>TTG		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						129.0	120.0	123.0					1																	22987517		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987517C>T	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.400C>T	1.37:g.22987517C>T							p.L134L	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	532	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	134			C1q.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.400C>T	CCDS228.1																																																																																				0.602	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_000491		23	84	0	0	0	0.014323	0	23	84		
YTHDF2	51441	broad.mit.edu	37	1	29069930	29069930	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:29069930C>T	ENST00000373812.3	+	4	1510	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S383L|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S333L	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	383	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TCTACTCCTTCAGAACCCCAC	0.498																																						uc001brc.2		NaN																	0				ovary(1)|skin(1)	2						c.(1147-1149)TCA>TTA		high glucose-regulated protein 8							88.0	86.0	87.0					1																	29069930		1933	4133	6066	SO:0001583	missense	51441				humoral immune response			g.chr1:29069930C>T	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1148C>T	1.37:g.29069930C>T	ENSP00000362918:p.Ser383Leu					YTHDF2_uc001brd.2_Missense_Mutation_p.S380L|YTHDF2_uc010ofx.1_Missense_Mutation_p.S333L|YTHDF2_uc001bre.2_Missense_Mutation_p.S333L	p.S383L	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1645	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	383					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1148C>T	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923258	0.33908	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.24350	1.86;1.86;1.87	5.91	5.91	0.95273	.	0.185247	0.49305	D	0.000160	T	0.19087	0.0458	L	0.29908	0.895	0.47511	D	0.999441	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06320	-1.0833	9	.	.	.	.	13.0817	0.59117	0.0:0.9232:0.0:0.0768	.	383;383	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	L	383;383;333;383	ENSP00000444660:S383L;ENSP00000362918:S383L;ENSP00000439394:S333L	.	S	+	2	0	YTHDF2	28942517	0.929000	0.31497	1.000000	0.80357	0.988000	0.76386	2.013000	0.40942	2.802000	0.96397	0.655000	0.94253	TCA		0.498	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1		NM_016258		22	73	0	0	0	0.012319	0	22	73		
BAI2	576	broad.mit.edu	37	1	32205546	32205546	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:32205546C>T	ENST00000373658.3	-	14	2489	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	BAI2_ENST00000527361.1_Silent_p.L716L|BAI2_ENST00000373655.2_Silent_p.L716L|BAI2_ENST00000257070.4_Silent_p.L716L|BAI2_ENST00000398556.3_Silent_p.L664L|BAI2_ENST00000440175.2_Silent_p.L358L|BAI2_ENST00000398542.1_Silent_p.L649L|BAI2_ENST00000398538.1_Silent_p.L704L|BAI2_ENST00000398547.1_Silent_p.L649L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	716					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGTGACAATCAGAGAGCTCT	0.552																																						uc001btn.2		NaN																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(2146-2148)CTG>CTA		brain-specific angiogenesis inhibitor 2							61.0	63.0	62.0					1																	32205546		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32205546C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.2148G>A	1.37:g.32205546C>T						BAI2_uc010ogo.1_Silent_p.L358L|BAI2_uc010ogp.1_Silent_p.L649L|BAI2_uc010ogq.1_Silent_p.L716L|BAI2_uc001bto.2_Silent_p.L716L|BAI2_uc001btq.1_Silent_p.L649L|BAI2_uc010ogr.1_Missense_Mutation_p.D526N	p.L716L	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	14	2502	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	716			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.2148G>A	CCDS346.2																																																																																				0.552	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1		NM_001703		11	48	0	0	0	0.010729	0	11	48		
SYNC	81493	broad.mit.edu	37	1	33149906	33149906	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33149906C>G	ENST00000409190.3	-	3	1769	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Missense_Mutation_p.E437D	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	437	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCTGTTCCATCTCTTTGTTCT	0.463																																						uc001bvt.2		NaN																	0				ovary(1)	1						c.(1309-1311)GAG>GAC		syncoilin, intermediate filament 1 isoform 1							245.0	223.0	231.0					1																	33149906		2203	4300	6503	SO:0001583	missense	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149906C>G	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1311G>C	1.37:g.33149906C>G	ENSP00000386439:p.Glu437Asp					SYNC_uc010ohl.1_Missense_Mutation_p.E437D|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR	p.E437D	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN			3	1411	-			437			Coil 2.		B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	c.1311G>C	CCDS367.2	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556510	0.27827	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.89196	-2.48;-2.48	5.71	4.78	0.61160	Filament (1);	0.140157	0.46442	N	0.000298	T	0.77857	0.4193	N	0.19112	0.55	0.38307	D	0.943139	B;B	0.25048	0.096;0.117	B;B	0.25884	0.026;0.064	T	0.71361	-0.4616	10	0.08837	T	0.75	-8.6871	9.4867	0.38933	0.0:0.7813:0.1446:0.0741	.	437;437	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	D	437	ENSP00000362583:E437D;ENSP00000386439:E437D	ENSP00000362583:E437D	E	-	3	2	SYNC	32922493	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.866000	0.27954	1.528000	0.49103	0.561000	0.74099	GAG		0.463	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3		NM_030786		59	152	0	0	0	0.01441	0	59	152		
KIAA1522	57648	broad.mit.edu	37	1	33236757	33236757	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33236757C>T	ENST00000373480.1	+	6	1903	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V	KIAA1522_ENST00000401073.2_Silent_p.V659V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.V611V	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	600	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAGGTTTGTCATACCTCCTC	0.632																																						uc001bvv.2		NaN																	0					0						c.(1798-1800)GTC>GTT		hypothetical protein LOC57648							86.0	92.0	90.0					1																	33236757		1941	4122	6063	SO:0001819	synonymous_variant	57648							g.chr1:33236757C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1800C>T	1.37:g.33236757C>T						KIAA1522_uc001bvu.1_Silent_p.V659V|KIAA1522_uc010ohm.1_Silent_p.V611V|KIAA1522_uc010ohn.1_Intron	p.V600V	NM_020888	NP_065939	Q9P206	K1522_HUMAN			6	1936	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	600			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1800C>T	CCDS55588.1																																																																																				0.632	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1				68	77	0	0	0	0.01441	0	68	77		
CSMD2	114784	broad.mit.edu	37	1	33992844	33992844	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33992844C>T	ENST00000373381.4	-	65	10362	c.10186G>A	c.(10186-10188)Ggg>Agg	p.G3396R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3252W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGGTCTCCCACTGGGCCGG	0.502																																						uc001bxn.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(9754-9756)GGG>AGG		CUB and Sushi multiple domains 2							85.0	82.0	83.0					1																	33992844		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33992844C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10186G>A	1.37:g.33992844C>T	ENSP00000362479:p.Gly3396Arg					CSMD2_uc001bxm.1_Missense_Mutation_p.G3396R	p.G3252R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			64	9783	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3252			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9754G>A		.	.	.	.	.	.	.	.	.	.	C	14.13	2.443451	0.43429	.	.	ENSG00000121904	ENST00000373381	T	0.23552	1.9	5.41	5.41	0.78517	Complement control module (1);	0.192392	0.45606	D	0.000360	T	0.23532	0.0569	L	0.47716	1.5	0.80722	D	1	B;B	0.25955	0.138;0.0	B;B	0.23275	0.045;0.001	T	0.04128	-1.0975	10	0.15499	T	0.54	.	15.9258	0.79615	0.0:1.0:0.0:0.0	.	3252;3396	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	3396	ENSP00000362479:G3396R	ENSP00000241312:G3252R	G	-	1	0	CSMD2	33765431	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.832000	0.62759	2.562000	0.86427	0.655000	0.94253	GGG		0.502	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		7	61	0	0	0	0.004482	0	7	61		
PPT1	5538	broad.mit.edu	37	1	40537148	40537148	+	IGR	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:40537148C>G	ENST00000433473.3	-	0	2740				CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.F456L|CAP1_ENST00000372805.3_Missense_Mutation_p.F457L|CAP1_ENST00000372802.1_Missense_Mutation_p.F456L|PPT1_ENST00000372775.2_5'Flank|CAP1_ENST00000372797.3_Missense_Mutation_p.F457L|CAP1_ENST00000372792.2_Missense_Mutation_p.F457L|CAP1_ENST00000372798.1_Missense_Mutation_p.F456L	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGAGCAGTTCAAGACCCTAT	0.473																																						uc001cfa.3		NaN																	0				ovary(1)	1						c.(1369-1371)TTC>TTG		adenylyl cyclase-associated protein							82.0	73.0	76.0					1																	40537148		1885	4101	5986	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40537148C>G	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40537148C>G						CAP1_uc001cey.3_Missense_Mutation_p.F457L|CAP1_uc001cez.3_Missense_Mutation_p.F457L|CAP1_uc009vvz.2_Missense_Mutation_p.F457L|CAP1_uc010oje.1_Missense_Mutation_p.F374L	p.F457L	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	1600	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	457					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.1371C>G	CCDS447.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846609	0.71603	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.09817	2.95;2.94;2.95;2.94;2.94;2.95	5.45	1.57	0.23409	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);CAP, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	M	0.64260	1.97	0.80722	D	1	D;P	0.59357	0.985;0.923	P;P	0.60012	0.867;0.782	T	0.00465	-1.1723	10	0.62326	D	0.03	-12.5437	8.2289	0.31587	0.0:0.6231:0.0:0.3769	.	404;457	E7ENY9;Q01518	.;CAP1_HUMAN	L	457;456;457;434;456;456;457	ENSP00000361883:F457L;ENSP00000361888:F456L;ENSP00000361878:F457L;ENSP00000361884:F456L;ENSP00000344832:F456L;ENSP00000361891:F457L	ENSP00000344832:F456L	F	+	3	2	CAP1	40309735	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.983000	0.40648	0.145000	0.18977	-0.142000	0.14014	TTC		0.473	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2		NM_000310		18	11	0	0	0	0.007413	0	18	11		
MROH7	374977	broad.mit.edu	37	1	55118945	55118945	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:55118945G>A	ENST00000421030.2	+	3	631	c.346G>A	c.(346-348)Gac>Aac	p.D116N	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.D116N|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000545244.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.D116N|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.D116N	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	116						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTCAAGGCCTGACTCACAGGG	0.572																																						uc010ooe.1		NaN																	0					0						c.(346-348)GAC>AAC		hypothetical protein LOC374977							109.0	107.0	107.0					1																	55118945		1973	4167	6140	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55118945G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.346G>A	1.37:g.55118945G>A	ENSP00000396622:p.Asp116Asn					C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.D116N|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.D116N|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.D116N	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			3	670	+			116					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.346G>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	0.308	-0.969726	0.02232	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02236	4.94;4.38;4.39	3.58	-3.47	0.04753	.	1.649200	0.03943	N	0.287250	T	0.01387	0.0045	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.48747	-0.9008	10	0.15066	T	0.55	.	9.0569	0.36412	0.4924:0.0:0.5076:0.0	.	116;116;116	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	N	116	ENSP00000396622:D116N;ENSP00000343211:D116N;ENSP00000379044:D116N	ENSP00000343211:D116N	D	+	1	0	HEATR8	54891533	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.636000	0.05465	-0.748000	0.04753	0.561000	0.74099	GAC		0.572	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1		NM_198547		72	81	0	0	0	0.01441	0	72	81		
PRKAA2	5563	broad.mit.edu	37	1	57171852	57171852	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:57171852G>A	ENST00000371244.4	+	8	1447	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	461					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.D461N(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TTACCTGGTTGATAACAGGAG	0.378																																						uc001cyk.3		NaN																	1	Substitution - Missense(1)	p.D461N(1)	lung(1)	breast(4)|ovary(1)|stomach(1)	6						c.(1381-1383)GAT>AAT		AMP-activated protein kinase alpha 2 catalytic							124.0	117.0	120.0					1																	57171852		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57171852G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1381G>A	1.37:g.57171852G>A	ENSP00000360290:p.Asp461Asn						p.D461N	NM_006252	NP_006243	P54646	AAPK2_HUMAN			8	1452	+			461					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1381G>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150749	0.94645	.	.	ENSG00000162409	ENST00000371244	T	0.10382	2.88	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.44862	-0.9300	10	0.59425	D	0.04	-20.706	19.5578	0.95358	0.0:0.0:1.0:0.0	.	461	P54646	AAPK2_HUMAN	N	461	ENSP00000360290:D461N	ENSP00000360290:D461N	D	+	1	0	PRKAA2	56944440	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	9.448000	0.97600	2.695000	0.91970	0.563000	0.77884	GAT		0.378	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2		NM_006252		30	38	0	0	0	0.009535	0	30	38		
PKN2	5586	broad.mit.edu	37	1	89236127	89236127	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:89236127G>T	ENST00000370521.3	+	4	956	c.597G>T	c.(595-597)caG>caT	p.Q199H	PKN2_ENST00000370505.3_Missense_Mutation_p.Q42H|PKN2_ENST00000370513.5_Missense_Mutation_p.Q199H|PKN2_ENST00000316005.7_Missense_Mutation_p.Q199H	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	199					apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AGGCAGTCCAGACTAATGAAT	0.408																																						uc001dmn.2		NaN																	0				large_intestine(1)|lung(1)|skin(1)	3						c.(595-597)CAG>CAT		protein kinase N2							139.0	134.0	136.0					1																	89236127		1906	4133	6039	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89236127G>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.597G>T	1.37:g.89236127G>T	ENSP00000359552:p.Gln199His					PKN2_uc001dmm.1_Missense_Mutation_p.Q199H|PKN2_uc010osp.1_Missense_Mutation_p.Q199H|PKN2_uc010osq.1_Missense_Mutation_p.Q42H|PKN2_uc009wcv.2_Missense_Mutation_p.Q199H	p.Q199H	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	4	939	+		Lung NSC(277;0.123)	199			REM 2.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.597G>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147576	0.77888	.	.	ENSG00000065243	ENST00000370521;ENST00000316005;ENST00000370505;ENST00000370513	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	5.35	4.44	0.53790	.	0.000000	0.42821	U	0.000641	T	0.55386	0.1917	M	0.88640	2.97	0.80722	D	1	P;P;P;P	0.52842	0.956;0.909;0.545;0.917	D;P;P;P	0.64506	0.926;0.759;0.72;0.76	T	0.65952	-0.6043	10	0.62326	D	0.03	.	14.2508	0.66019	0.0721:0.0:0.9279:0.0	.	199;199;199;199	B4DTP5;E7ESL7;Q16513;B1AL79	.;.;PKN2_HUMAN;.	H	199;199;42;199	ENSP00000359552:Q199H;ENSP00000317851:Q199H;ENSP00000359536:Q42H;ENSP00000359544:Q199H	ENSP00000317851:Q199H	Q	+	3	2	PKN2	89008715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.383000	0.73172	1.384000	0.46424	0.655000	0.94253	CAG		0.408	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3		NM_006256		27	38	1	0	7.01153e-11	0.007291	7.40841e-11	27	38		
AGL	178	broad.mit.edu	37	1	100387187	100387187	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:100387187G>C	ENST00000294724.4	+	34	5057	c.4579G>C	c.(4579-4581)Gag>Cag	p.E1527Q	AGL_ENST00000361915.3_Missense_Mutation_p.E1527Q|AGL_ENST00000370165.3_Missense_Mutation_p.E1527Q|AGL_ENST00000361302.3_Missense_Mutation_p.E1511Q|AGL_ENST00000370163.3_Missense_Mutation_p.E1527Q|AGL_ENST00000370161.2_Missense_Mutation_p.E1511Q|AGL_ENST00000361522.4_Missense_Mutation_p.E1510Q	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1527					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TACTATTCTTGAGACACTTTA	0.378																																						uc001dsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(4579-4581)GAG>CAG		amylo-1,6-glucosidase,							78.0	77.0	77.0					1																	100387187		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100387187G>C	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4579G>C	1.37:g.100387187G>C	ENSP00000294724:p.Glu1527Gln					AGL_uc001dsj.1_Missense_Mutation_p.E1527Q|AGL_uc001dsk.1_Missense_Mutation_p.E1527Q|AGL_uc001dsl.1_Missense_Mutation_p.E1527Q|AGL_uc001dsm.1_Missense_Mutation_p.E1511Q|AGL_uc001dsn.1_Missense_Mutation_p.E1510Q	p.E1527Q	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	34	4979	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1527			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.4579G>C	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028036	0.54790	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.96	4.96	0.65561	Six-hairpin glycosidase-like (1);	0.097389	0.64402	D	0.000001	T	0.81978	0.4937	M	0.82517	2.595	0.80722	D	1	D;D;D	0.56746	0.972;0.972;0.977	P;P;D	0.63877	0.868;0.868;0.919	T	0.83245	-0.0056	10	0.51188	T	0.08	.	18.5695	0.91129	0.0:0.0:1.0:0.0	.	1510;1511;1527	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	Q	1527;1527;1527;1527;1511;1511;1510	ENSP00000355106:E1527Q;ENSP00000359184:E1527Q;ENSP00000359182:E1527Q;ENSP00000294724:E1527Q;ENSP00000354971:E1511Q;ENSP00000359180:E1511Q;ENSP00000354635:E1510Q	ENSP00000294724:E1527Q	E	+	1	0	AGL	100159775	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.348000	0.97062	2.478000	0.83669	0.585000	0.79938	GAG		0.378	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		9	42	0	0	0	0.006214	0	9	42		
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.2	Q61L(HEPG2_LIVER)|Q61R(SKMEL2_SKIN)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MHHES1_BONE)|Q61R(HT1197_URINARY_TRACT)|Q61L(MELJUSO_SKIN)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(KU1919_URINARY_TRACT)|Q61L(C3A_LIVER)|Q61R(TT2609C02_THYROID)|Q61R(NCIH2347_LUNG)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(SW1271_LUNG)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			melanoma|MM|AML|thyroid		1016	Substitution - Missense(1016)	p.Q61R(757)|p.Q61K(537)|p.Q61L(147)|p.Q61H(95)|p.Q61P(21)|p.Q61E(9)|p.Q61?(4)|p.Q61Q(3)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1)	2607						c.(181-183)CAA>CGA		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).	GTP.		Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2		NM_002524		34	137	0	0	0	0.013726	0	34	137		
PDE4DIP	9659	broad.mit.edu	37	1	144874708	144874708	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:144874708C>G	ENST00000369354.3	-	30	5089	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1634Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1590Q|RP4-791M13.5_ENST00000531288.1_RNA|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1770Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1770Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1634	NBPF. {ECO:0000255|PROSITE- ProRule:PRU00647}.				cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTTCTTCTCTTCATAGTGT	0.517			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4900-4902)GAG>CAG		phosphodiesterase 4D interacting protein isoform							303.0	281.0	288.0					1																	144874708		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144874708C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4900G>C	1.37:g.144874708C>G	ENSP00000358360:p.Glu1634Gln					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1590Q|PDE4DIP_uc001elv.3_Missense_Mutation_p.E641Q	p.E1634Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	5191	-			1634			NBPF.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4900G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273447	0.59649	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01963	4.53;4.62;4.62;4.59;4.65	5.73	4.81	0.61882	DUF1220 (1);	.	.	.	.	T	0.02230	0.0069	L	0.54323	1.7	0.80722	D	1	P;D	0.55605	0.787;0.972	B;P	0.49226	0.426;0.603	T	0.53627	-0.8412	9	0.66056	D	0.02	.	10.5765	0.45229	0.0:0.9114:0.0:0.0886	.	1590;1634	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	Q	1590;1634;1634;1770;1770	ENSP00000327209:E1590Q;ENSP00000358360:E1634Q;ENSP00000358363:E1634Q;ENSP00000435654:E1770Q;ENSP00000358366:E1770Q	ENSP00000327209:E1590Q	E	-	1	0	PDE4DIP	143586065	0.966000	0.33281	1.000000	0.80357	0.891000	0.51852	3.330000	0.52068	1.412000	0.46977	0.650000	0.86243	GAG		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		36	314	0	0	0	0.005524	0	36	314		
NOTCH2NL	388677	broad.mit.edu	37	1	145282020	145282020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:145282020G>A	ENST00000369340.3	+	6	1144	c.700G>A	c.(700-702)Gat>Aat	p.D234N	NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.D234N|RP11-458D21.5_ENST00000468030.1_Intron			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	234					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						AAAAGAACACGATGAGAATTA	0.378																																						uc001emn.3		NaN																	0				ovary(1)	1						c.(700-702)GAT>AAT		Notch homolog 2 N-terminal like protein							149.0	150.0	150.0					1																	145282020		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145282020G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.700G>A	1.37:g.145282020G>A	ENSP00000358346:p.Asp234Asn					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NOTCH2NL_uc001emm.3_Missense_Mutation_p.D234N|NOTCH2NL_uc001emo.2_Intron|NOTCH2NL_uc010oyh.1_Intron	p.D234N	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			5	1070	+			234					Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.700G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	2.260	-0.369480	0.05069	.	.	ENSG00000213240	ENST00000362074;ENST00000369340	D;D	0.85556	-2.0;-2.0	2.17	-4.34	0.03666	.	.	.	.	.	T	0.39682	0.1087	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26677	-1.0096	9	0.35671	T	0.21	.	0.4004	0.00425	0.2897:0.2064:0.3004:0.2035	.	234	Q7Z3S9	NT2NL_HUMAN	N	234	ENSP00000354929:D234N;ENSP00000358346:D234N	ENSP00000354929:D234N	D	+	1	0	NOTCH2NL	143993377	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.802000	0.04545	-1.025000	0.03334	0.186000	0.17326	GAT		0.378	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1		NM_203458		10	71	0	0	0	0.010729	0	10	71		
NBPF10	100132406	broad.mit.edu	37	1	145367724	145367724	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:145367724G>C	ENST00000342960.5	+	83	10355	c.10320G>C	c.(10318-10320)aaG>aaC	p.K3440N	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAATTGAAaagaaggggaagg	0.428																																						uc001end.3		NaN																	0					0						c.(10543-10545)AAG>AAC		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367724G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10320G>C	1.37:g.145367724G>C	ENSP00000345684:p.Lys3440Asn					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.K3515N	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10580	+	all_hematologic(923;0.032)		3440					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10545G>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	4.293	0.053514	0.08291	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.04119	3.7	.	.	.	.	.	.	.	.	T	0.05227	0.0139	M	0.82630	2.6	0.09310	N	1	.	.	.	.	.	.	T	0.22173	-1.0224	5	0.45353	T	0.12	.	.	.	.	.	.	.	.	N	560;754;3440	ENSP00000345684:K3440N	ENSP00000345684:K3440N	K	+	3	2	NBPF10	144079081	0.210000	0.23517	0.018000	0.16275	0.041000	0.13682	-0.440000	0.06888	0.424000	0.26061	0.154000	0.16183	AAG		0.428	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703		14	125	0	0	0	0.00499	0	14	125		
GOLPH3L	55204	broad.mit.edu	37	1	150620960	150620960	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:150620960G>C	ENST00000271732.3	-	5	739	c.695C>G	c.(694-696)tCt>tGt	p.S232C	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S188C	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	232					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TAGCACATCAGAGGAGTGGGC	0.473																																						uc001evj.2		NaN																	0				ovary(1)	1						c.(694-696)TCT>TGT		Golgi phosphoprotein 3-like							159.0	146.0	150.0					1																	150620960		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150620960G>C	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.695C>G	1.37:g.150620960G>C	ENSP00000271732:p.Ser232Cys					GOLPH3L_uc010pci.1_Missense_Mutation_p.S188C	p.S232C	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	912	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		232					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.695C>G	CCDS966.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235127	0.79800	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	M	0.91768	3.24	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86822	0.2005	9	0.87932	D	0	-8.9589	17.9983	0.89191	0.0:0.0:1.0:0.0	.	188;232	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	C	232;254;188;254	.	ENSP00000271732:S232C	S	-	2	0	GOLPH3L	148887584	1.000000	0.71417	0.961000	0.40146	0.993000	0.82548	9.190000	0.94934	2.832000	0.97577	0.655000	0.94253	TCT		0.473	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1		NM_018178		23	77	0	0	0	0.003954	0	23	77		
GOLPH3L	55204	broad.mit.edu	37	1	150621093	150621093	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:150621093G>T	ENST00000271732.3	-	5	606	c.562C>A	c.(562-564)Cat>Aat	p.H188N	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.H144N	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	188					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACTGGATGAGTAGTCATG	0.443																																						uc001evj.2		NaN																	0				ovary(1)	1						c.(562-564)CAT>AAT		Golgi phosphoprotein 3-like							89.0	82.0	84.0					1																	150621093		2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150621093G>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.562C>A	1.37:g.150621093G>T	ENSP00000271732:p.His188Asn					GOLPH3L_uc010pci.1_Missense_Mutation_p.H144N	p.H188N	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	779	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		188					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.562C>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649108	0.87958	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	H	0.95365	3.66	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.74674	0.982;0.984	D	0.89281	0.3612	9	0.87932	D	0	-15.1289	17.9983	0.89191	0.0:0.0:1.0:0.0	.	144;188	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	N	188;210;144;210	.	ENSP00000271732:H188N	H	-	1	0	GOLPH3L	148887717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.832000	0.97577	0.655000	0.94253	CAT		0.443	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1		NM_018178		9	39	1	0	5.68852e-11	0.004482	6.02676e-11	9	39		
LYSMD1	388695	broad.mit.edu	37	1	151137595	151137595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:151137595C>T	ENST00000368908.5	-	1	800	c.140G>A	c.(139-141)gGa>gAa	p.G47E	SCNM1_ENST00000368905.4_5'Flank|LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	47										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CAGGGTGTCTCCGGGCTCCAA	0.562																																						uc001ewy.2		NaN																	0					0						c.(139-141)GGA>GAA		LysM, putative peptidoglycan-binding, domain							50.0	48.0	49.0					1																	151137595		2203	4300	6503	SO:0001583	missense	388695				cell wall macromolecule catabolic process			g.chr1:151137595C>T	BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.140G>A	1.37:g.151137595C>T	ENSP00000357904:p.Gly47Glu					LYSMD1_uc010pcr.1_Intron|SCNM1_uc010pcs.1_5'Flank|SCNM1_uc001ewz.2_5'Flank|SCNM1_uc009wmn.2_5'Flank	p.G47E	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	776	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		47			LysM.		B4DQA1|Q69YX9	Missense_Mutation	SNP	ENST00000368908.5	37	c.140G>A	CCDS986.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552446	0.65311	.	.	ENSG00000163155	ENST00000368908	T	0.73789	-0.78	5.04	4.13	0.48395	Peptidoglycan-binding Lysin subgroup (1);Peptidoglycan-binding lysin domain (1);	0.109197	0.64402	N	0.000008	T	0.74168	0.3681	H	0.94734	3.575	0.80722	D	1	P	0.35628	0.513	B	0.35931	0.214	T	0.80834	-0.1205	10	0.87932	D	0	-1.215	12.2746	0.54728	0.0:0.9169:0.0:0.0831	.	47	Q96S90	LYSM1_HUMAN	E	47	ENSP00000357904:G47E	ENSP00000357904:G47E	G	-	2	0	LYSMD1	149404219	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.225000	0.51246	1.358000	0.45922	0.563000	0.77884	GGA		0.562	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034070.3		NM_212551		26	27	0	0	0	0.004656	0	26	27		
FLG	2312	broad.mit.edu	37	1	152281835	152281835	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:152281835G>C	ENST00000368799.1	-	3	5562	c.5527C>G	c.(5527-5529)Cac>Gac	p.H1843D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1843	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGGCTGTGATGAGACCCT	0.532									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5527-5529)CAC>GAC		filaggrin							341.0	334.0	336.0					1																	152281835		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281835G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5527C>G	1.37:g.152281835G>C	ENSP00000357789:p.His1843Asp						p.H1843D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5563	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1843			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5527C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.928	1.214061	0.22289	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01599	4.74	3.25	-0.0437	0.13858	.	.	.	.	.	T	0.02418	0.0074	M	0.81682	2.555	0.09310	N	1	P	0.50156	0.932	P	0.61397	0.888	T	0.40961	-0.9535	9	0.31617	T	0.26	-0.0801	4.7977	0.13281	0.1355:0.4463:0.4182:0.0	.	1843	P20930	FILA_HUMAN	D	1843;78	ENSP00000357789:H1843D	ENSP00000271820:H78D	H	-	1	0	FLG	150548459	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.101000	0.15251	0.160000	0.19432	0.586000	0.80456	CAC		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		200	227	0	0	0	0.01441	0	200	227		
DENND4B	9909	broad.mit.edu	37	1	153902811	153902811	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:153902811C>T	ENST00000361217.4	-	28	4871	c.4453G>A	c.(4453-4455)Gac>Aac	p.D1485N	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1485					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCGGCAGTCAATGGCCTTG	0.547																																						uc001fdd.1		NaN																	0				ovary(1)	1						c.(4453-4455)GAC>AAC		DENN/MADD domain containing 4B							54.0	57.0	56.0					1																	153902811		1986	4150	6136	SO:0001583	missense	9909							g.chr1:153902811C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.4453G>A	1.37:g.153902811C>T	ENSP00000354597:p.Asp1485Asn					uc001fdc.1_Intron	p.D1485N	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		28	4854	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1485					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.4453G>A	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.856527	0.51376	.	.	ENSG00000198837	ENST00000361217	T	0.06849	3.25	5.14	3.28	0.37604	.	0.097389	0.64402	D	0.000002	T	0.02380	0.0073	L	0.33485	1.01	0.52501	D	0.999954	B	0.16166	0.016	B	0.12837	0.008	T	0.38045	-0.9679	10	0.24483	T	0.36	-14.7417	10.8558	0.46798	0.0:0.844:0.0:0.156	.	1485	O75064	DEN4B_HUMAN	N	1485	ENSP00000354597:D1485N	ENSP00000354597:D1485N	D	-	1	0	DENND4B	152169435	1.000000	0.71417	0.920000	0.36463	0.724000	0.41520	5.098000	0.64548	0.748000	0.32831	0.561000	0.74099	GAC		0.547	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		12	34	0	0	0	0.013537	0	12	34		
KCNN3	3782	broad.mit.edu	37	1	154705586	154705586	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:154705586G>A	ENST00000271915.4	-	4	1798	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	KCNN3_ENST00000358505.2_Silent_p.L182L|KCNN3_ENST00000361147.4_Silent_p.L190L	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	500					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ATGGCACCCAGAAAGTTACTA	0.517																																						uc001ffp.2		NaN																	0				lung(1)	1						c.(1483-1485)CTG>TTG		small conductance calcium-activated potassium							181.0	144.0	157.0					1																	154705586		2203	4300	6503	SO:0001819	synonymous_variant	3782					integral to membrane	calmodulin binding	g.chr1:154705586G>A	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1483C>T	1.37:g.154705586G>A						KCNN3_uc001ffo.2_Silent_p.L190L	p.L495L	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		4	1797	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		500					B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	ENST00000271915.4	37	c.1483C>T	CCDS30880.1																																																																																				0.517	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3		NM_002249		15	53	0	0	0	0.003163	0	15	53		
HCN3	57657	broad.mit.edu	37	1	155257083	155257083	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:155257083C>T	ENST00000368358.3	+	7	1605	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	533					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCATGATGCGCCGGGCCTT	0.617																																						uc001fjz.1		NaN																	0				ovary(1)|breast(1)	2						c.(1597-1599)CGC>TGC		hyperpolarization activated cyclic							115.0	90.0	98.0					1																	155257083		2203	4300	6503	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155257083C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1597C>T	1.37:g.155257083C>T	ENSP00000357342:p.Arg533Cys					RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R228C	p.R533C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		7	1605	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		533			Cytoplasmic (Potential).|cAMP.		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.1597C>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948905	0.73787	.	.	ENSG00000143630	ENST00000368358	T	0.63580	-0.05	4.7	3.71	0.42584	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.42964	D	0.000630	T	0.63745	0.2537	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.978	T	0.67321	-0.5700	10	0.87932	D	0	.	9.692	0.40134	0.3305:0.6695:0.0:0.0	.	228;533	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	C	533	ENSP00000357342:R533C	ENSP00000357342:R533C	R	+	1	0	HCN3	153523707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.965000	0.29319	2.326000	0.78906	0.563000	0.77884	CGC		0.617	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1		NM_020897		18	63	0	0	0	0.012319	0	18	63		
CD1A	909	broad.mit.edu	37	1	158227240	158227240	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:158227240T>G	ENST00000289429.5	+	5	1446	c.913T>G	c.(913-915)Ttg>Gtg	p.L305V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	305					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTTCATCATCTTGGCGGTGAT	0.458																																						uc001frt.2		NaN																	0				pancreas(2)|skin(1)	3						c.(913-915)TTG>GTG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						369.0	340.0	349.0					1																	158227240		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158227240T>G	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.913T>G	1.37:g.158227240T>G	ENSP00000289429:p.Leu305Val						p.L305V	NM_001763	NP_001754	P06126	CD1A_HUMAN			5	1446	+	all_hematologic(112;0.0378)		305			Helical; (Potential).		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.913T>G	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	-	13.10	2.135066	0.37728	.	.	ENSG00000158477	ENST00000289429	T	0.01240	5.12	3.38	-3.89	0.04193	.	0.946732	0.08558	N	0.927897	T	0.00666	0.0022	M	0.67569	2.06	0.09310	N	1	P	0.45594	0.862	B	0.40901	0.343	T	0.37502	-0.9703	10	0.35671	T	0.21	-2.2478	6.1409	0.20259	0.0:0.5329:0.1818:0.2853	.	305	P06126	CD1A_HUMAN	V	305	ENSP00000289429:L305V	ENSP00000289429:L305V	L	+	1	2	CD1A	156493864	0.009000	0.17119	0.008000	0.14137	0.010000	0.07245	-0.257000	0.08745	-0.806000	0.04398	-0.361000	0.07541	TTG		0.458	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2		NM_001763		72	243	0	0	0	0.01441	0	72	243		
OR6K6	128371	broad.mit.edu	37	1	158725183	158725183	+	Missense_Mutation	SNP	C	C	T	rs377139064		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:158725183C>T	ENST00000368144.2	+	1	674	c.578C>T	c.(577-579)aCc>aTc	p.T193I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T193S(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGATTTCCACCTTGCCTTTC	0.478																																						uc001fsw.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(577-579)ACC>ATC		olfactory receptor, family 6, subfamily K,		C	ILE/THR	0,4406		0,0,2203	138.0	113.0	121.0		578	4.5	0.2	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR6K6	NM_001005184.1	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	193/344	158725183	1,13005	2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158725183C>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.578C>T	1.37:g.158725183C>T	ENSP00000357126:p.Thr193Ile						p.T193I	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	578	+	all_hematologic(112;0.0378)		193			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.578C>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756618	0.15846	0.0	1.16E-4	ENSG00000180433	ENST00000368144	T	0.00123	8.7	5.39	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.151022	0.30820	N	0.008811	T	0.00073	0.0002	M	0.66378	2.025	0.09310	N	1	B	0.30664	0.289	B	0.40477	0.33	T	0.14727	-1.0462	10	0.48119	T	0.1	-13.4538	7.5807	0.27963	0.0:0.7476:0.1657:0.0867	.	193	Q8NGW6	OR6K6_HUMAN	I	193	ENSP00000357126:T193I	ENSP00000357126:T193I	T	+	2	0	OR6K6	156991807	0.000000	0.05858	0.177000	0.23020	0.500000	0.33767	-1.118000	0.03280	1.512000	0.48834	0.655000	0.94253	ACC		0.478	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2		NM_001005184		41	45	0	0	0	0.00623	0	41	45		
IGSF9	57549	broad.mit.edu	37	1	159906269	159906269	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:159906269C>T	ENST00000368094.1	-	6	790	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.R198Q	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	198	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGCTGCCTCGCTCTACCCG	0.657											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fur.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(592-594)CGA>CAA		immunoglobulin superfamily, member 9 isoform a							47.0	47.0	47.0					1																	159906269		2203	4300	6503	SO:0001583	missense	57549					cell junction|integral to membrane|synapse		g.chr1:159906269C>T	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.593G>A	1.37:g.159906269C>T	ENSP00000357073:p.Arg198Gln		OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_uc001fuq.2_Missense_Mutation_p.R198Q	p.R198Q	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	791	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	198			Ig-like 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368094.1	37	c.593G>A	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500879	0.64298	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.77750	-1.12;-1.12	5.19	4.07	0.47477	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.238465	0.21634	N	0.071438	T	0.68815	0.3042	L	0.41415	1.275	0.31531	N	0.661213	P;D	0.56746	0.662;0.977	B;P	0.54210	0.14;0.745	T	0.65537	-0.6144	9	.	.	.	-7.4558	11.9013	0.52685	0.0:0.8994:0.0:0.1006	.	198;198	Q9P2J2;C9JI81	TUTLA_HUMAN;.	Q	198	ENSP00000355049:R198Q;ENSP00000357073:R198Q	.	R	-	2	0	IGSF9	158172893	0.809000	0.29036	0.628000	0.29241	0.916000	0.54674	4.040000	0.57333	2.418000	0.82041	0.655000	0.94253	CGA		0.657	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		NM_020789		20	50	0	0	0	0.00278	0	20	50		
CD84	8832	broad.mit.edu	37	1	160523264	160523264	+	Missense_Mutation	SNP	G	G	C	rs145496946		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:160523264G>C	ENST00000311224.4	-	4	730	c.664C>G	c.(664-666)Cac>Gac	p.H222D	CD84_ENST00000368047.3_5'Flank|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.H222D|CD84_ENST00000368048.3_Missense_Mutation_p.H222D|CD84_ENST00000534968.1_Missense_Mutation_p.H108D|CD84_ENST00000368051.3_Missense_Mutation_p.H222D	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	222					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCGGTGTGGTGAGTACGGAAG	0.488																																						uc001fwh.3		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(664-666)CAC>GAC		CD84 molecule							114.0	108.0	110.0					1																	160523264		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523264G>C	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.664C>G	1.37:g.160523264G>C	ENSP00000312367:p.His222Asp					CD84_uc001fwf.3_Missense_Mutation_p.H222D|CD84_uc001fwg.3_Missense_Mutation_p.H222D|CD84_uc009wtn.2_Missense_Mutation_p.H222D|CD84_uc001fwi.3_Missense_Mutation_p.H108D|CD84_uc001fwj.2_Missense_Mutation_p.H222D	p.H222D	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	688	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		222			Extracellular (Potential).		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.664C>G	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958091	0.18507	.	.	ENSG00000066294	ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	4.83	1.76	0.24704	.	4.649090	0.00166	N	0.000000	T	0.07863	0.0197	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.29805	0.002;0.021;0.257;0.006;0.011;0.002	B;B;B;B;B;B	0.29077	0.016;0.027;0.098;0.01;0.037;0.016	T	0.14615	-1.0466	10	0.12103	T	0.63	4.1466	4.7191	0.12910	0.1843:0.0:0.6458:0.1699	.	222;222;108;222;222;222	Q9UIB8-5;Q9UIB8-4;Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	D	108;222;222;222;222;222	ENSP00000442845:H108D;ENSP00000357033:H222D;ENSP00000357027:H222D;ENSP00000312367:H222D;ENSP00000357030:H222D;ENSP00000353163:H222D	ENSP00000312367:H222D	H	-	1	0	CD84	158789888	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.650000	0.24858	0.282000	0.22254	0.650000	0.86243	CAC		0.488	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1		NM_003874		21	46	0	0	0	0.014323	0	21	46		
PAPPA2	60676	broad.mit.edu	37	1	176564329	176564329	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:176564329T>C	ENST00000367662.3	+	3	2753	c.1589T>C	c.(1588-1590)gTg>gCg	p.V530A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.V530A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	530	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TACCAGGTGGTGAACATCTGT	0.527																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1588-1590)GTG>GCG		pappalysin 2 isoform 1							53.0	56.0	55.0					1																	176564329		2098	4223	6321	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564329T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1589T>C	1.37:g.176564329T>C	ENSP00000356634:p.Val530Ala					PAPPA2_uc001gky.1_Missense_Mutation_p.V530A|PAPPA2_uc009www.2_RNA	p.V530A	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2753	+			530			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1589T>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573923	0.45902	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.43294	0.95;0.95	5.24	4.09	0.47781	.	0.064303	0.64402	D	0.000009	T	0.58722	0.2142	M	0.80422	2.495	0.43852	D	0.996442	D;D	0.63880	0.985;0.993	P;P	0.55999	0.77;0.789	T	0.63919	-0.6528	10	0.87932	D	0	-14.4667	11.9781	0.53105	0.0:0.0:0.1453:0.8547	.	530;530	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	A	530	ENSP00000356634:V530A;ENSP00000356633:V530A	ENSP00000356633:V530A	V	+	2	0	PAPPA2	174830952	1.000000	0.71417	0.996000	0.52242	0.063000	0.16089	7.897000	0.87356	0.811000	0.34303	-0.323000	0.08544	GTG		0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				19	28	0	0	0	0.007413	0	19	28		
SOAT1	6646	broad.mit.edu	37	1	179320465	179320465	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:179320465C>G	ENST00000367619.3	+	15	1607	c.1464C>G	c.(1462-1464)ttC>ttG	p.F488L	SOAT1_ENST00000539888.1_Missense_Mutation_p.F423L|SOAT1_ENST00000535686.1_Missense_Mutation_p.F224L|SOAT1_ENST00000540564.1_Missense_Mutation_p.F430L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	488					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTCAACTTCATTGTCAATG	0.408																																						uc001gml.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1462-1464)TTC>TTG		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						191.0	184.0	187.0					1																	179320465		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179320465C>G	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1464C>G	1.37:g.179320465C>G	ENSP00000356591:p.Phe488Leu					SOAT1_uc010pni.1_Missense_Mutation_p.F423L|SOAT1_uc001gmm.2_Missense_Mutation_p.F430L|SOAT1_uc010pnj.1_Missense_Mutation_p.F224L|SOAT1_uc010pnk.1_Missense_Mutation_p.F423L	p.F488L	NM_003101	NP_003092	P35610	SOAT1_HUMAN			15	1527	+			488			Helical; (Potential).		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1464C>G	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282939	0.80692	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.91	4.06	0.47325	.	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	M	0.64997	1.995	0.58432	D	0.999994	D;D	0.65815	0.995;0.995	D;D	0.72075	0.976;0.919	T	0.82452	-0.0450	10	0.72032	D	0.01	-13.0576	10.522	0.44924	0.0:0.8446:0.0:0.1554	.	430;488	A8K3P4;P35610	.;SOAT1_HUMAN	L	423;430;224;488	ENSP00000441356:F423L;ENSP00000445315:F430L;ENSP00000442503:F224L;ENSP00000356591:F488L	ENSP00000356591:F488L	F	+	3	2	SOAT1	177587088	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	1.971000	0.40530	0.848000	0.35191	0.655000	0.94253	TTC		0.408	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2		NM_003101		39	97	0	0	0	0.00874	0	39	97		
HMCN1	83872	broad.mit.edu	37	1	186007984	186007984	+	Missense_Mutation	SNP	C	C	T	rs149920975	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:186007984C>T	ENST00000271588.4	+	38	6104	c.5875C>T	c.(5875-5877)Cgt>Tgt	p.R1959C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1959C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1959	Ig-like C2-type 17.			R -> C (in Ref. 1). {ECO:0000305}.	response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGATAATCGTCTACTCTC	0.348																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(5875-5877)CGT>TGT		hemicentin 1 precursor		C	CYS/ARG	0,4406		0,0,2203	110.0	108.0	109.0		5875	6.1	0.1	1	dbSNP_134	109	1,8599		0,1,4299	no	missense	HMCN1	NM_031935.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1959/5636	186007984	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186007984C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5875C>T	1.37:g.186007984C>T	ENSP00000271588:p.Arg1959Cys						p.R1959C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			38	6104	+			1959	R -> C (in Ref. 1).		Ig-like C2-type 17.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.5875C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.668691	0.67814	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.230232	0.47852	D	0.000211	T	0.80849	0.4702	M	0.75615	2.305	0.58432	D	0.999999	D	0.76494	0.999	P	0.59761	0.863	T	0.80933	-0.1161	10	0.62326	D	0.03	.	20.2159	0.98296	0.0:1.0:0.0:0.0	.	1959	Q96RW7	HMCN1_HUMAN	C	1959	ENSP00000271588:R1959C;ENSP00000356462:R1959C	ENSP00000271588:R1959C	R	+	1	0	HMCN1	184274607	0.768000	0.28519	0.121000	0.21740	0.201000	0.24016	4.301000	0.59086	2.882000	0.98803	0.655000	0.94253	CGT		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		13	96	0	0	0	0.004007	0	13	96		
ASPM	259266	broad.mit.edu	37	1	197070512	197070512	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:197070512T>G	ENST00000367409.4	-	18	8125	c.7869A>C	c.(7867-7869)gaA>gaC	p.E2623D	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2623					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCTGGTGCTGTTCCTGAATCT	0.343																																						uc001gtu.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(7867-7869)GAA>GAC		asp (abnormal spindle)-like, microcephaly							66.0	62.0	64.0					1																	197070512		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070512T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7869A>C	1.37:g.197070512T>G	ENSP00000356379:p.Glu2623Asp					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.E471D	p.E2623D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	8126	-			2623					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7869A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168290	0.38315	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.71934	-0.61	5.34	0.297	0.15762	.	1.256230	0.05388	N	0.538452	T	0.68063	0.2960	L	0.61036	1.89	0.19575	N	0.999968	B;P	0.37663	0.003;0.604	B;B	0.40864	0.002;0.342	T	0.53279	-0.8461	10	0.30854	T	0.27	.	6.1646	0.20384	0.0:0.2154:0.1259:0.6587	.	609;2623	E7EQ84;Q8IZT6	.;ASPM_HUMAN	D	2623;609	ENSP00000356379:E2623D	ENSP00000356376:E609D	E	-	3	2	ASPM	195337135	0.020000	0.18652	0.000000	0.03702	0.034000	0.12701	0.684000	0.25364	0.089000	0.17243	0.455000	0.32223	GAA		0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		13	12	0	0	0	0.001855	0	13	12		
TNNI1	7135	broad.mit.edu	37	1	201380568	201380568	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:201380568G>A	ENST00000361379.4	-	7	465	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TNNI1_ENST00000367312.1_Missense_Mutation_p.R125W|TNNI1_ENST00000336092.4_Missense_Mutation_p.R125W|TNNI1_ENST00000555948.1_Intron	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	125					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						AGCAGGGCCCGGAGCATGGCG	0.597																																						uc010ppq.1		NaN																	0					0						c.(373-375)CGG>TGG		troponin I, skeletal, slow							73.0	67.0	69.0					1																	201380568		2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201380568G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.373C>T	1.37:g.201380568G>A	ENSP00000354488:p.Arg125Trp					TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.R104W	p.R125W	NM_003281	NP_003272	P19237	TNNI1_HUMAN			7	466	-			125					A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.373C>T	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101681	0.76983	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	4.67	2.71	0.32032	.	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95835	0.8861	10	0.87932	D	0	-6.0535	12.9152	0.58203	0.0:0.0:0.5008:0.4992	.	125	P19237	TNNI1_HUMAN	W	125;125;125;125;125;104;125	ENSP00000354488:R125W;ENSP00000337022:R125W;ENSP00000356281:R125W;ENSP00000451660:R104W;ENSP00000451776:R125W	ENSP00000337022:R125W	R	-	1	2	TNNI1	199647191	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.163000	0.50763	0.355000	0.24131	0.561000	0.74099	CGG		0.597	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1		NM_003281		17	20	0	0	0	0.004007	0	17	20		
OBSCN	84033	broad.mit.edu	37	1	228509288	228509288	+	Missense_Mutation	SNP	C	C	T	rs199529556	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:228509288C>T	ENST00000422127.1	+	55	14790	c.14746C>T	c.(14746-14748)Cgg>Tgg	p.R4916W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R5873W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4916W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2550W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2035W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4916	Ig-like 48.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGATGCCCTGCGGCTGGAGTG	0.617																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14746-14748)CGG>TGG		obscurin, cytoskeletal calmodulin and							31.0	36.0	34.0					1																	228509288		2165	4262	6427	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509288C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14746C>T	1.37:g.228509288C>T	ENSP00000409493:p.Arg4916Trp					OBSCN_uc001hsn.2_Missense_Mutation_p.R4916W	p.R4916W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	14790	+		Prostate(94;0.0405)	4916			Ig-like 48.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14746C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205055	0.39003	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.34	0.013	0.14094	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.353337	0.24384	N	0.038982	T	0.54351	0.1853	M	0.87971	2.92	0.09310	N	1	D;D	0.76494	0.999;0.998	P;P	0.54815	0.761;0.648	T	0.50224	-0.8853	10	0.56958	D	0.05	.	6.7146	0.23296	0.3595:0.5108:0.0:0.1297	.	4916;4916	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4916;4916;2550;2035	ENSP00000284548:R4916W;ENSP00000409493:R4916W;ENSP00000355668:R2550W;ENSP00000355670:R2035W	ENSP00000284548:R4916W	R	+	1	2	OBSCN	226575911	0.949000	0.32298	0.002000	0.10522	0.053000	0.15095	4.549000	0.60726	-0.255000	0.09486	-1.014000	0.02459	CGG		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		17	21	0	0	0	0.008871	0	17	21		
ACTN2	88	broad.mit.edu	37	1	236908062	236908062	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:236908062C>T	ENST00000366578.4	+	12	1558	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.I464I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	464					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCAGCCATCGCGCAGGAGC	0.657																																						uc001hyf.2		NaN																	0				ovary(4)|skin(1)	5						c.(1390-1392)ATC>ATT		actinin, alpha 2							58.0	50.0	53.0					1																	236908062		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236908062C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1392C>T	1.37:g.236908062C>T						ACTN2_uc001hyg.2_Silent_p.I256I|ACTN2_uc009xgi.1_Silent_p.I464I|ACTN2_uc010pxu.1_Silent_p.I153I|ACTN2_uc001hyh.2_Silent_p.I152I	p.I464I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		12	1596	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	464			Spectrin 2.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1392C>T	CCDS1613.1																																																																																				0.657	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1		NM_001103		16	37	0	0	0	0.00499	0	16	37		
ZP4	57829	broad.mit.edu	37	1	238053789	238053789	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:238053789T>C	ENST00000366570.4	-	1	305	c.147A>G	c.(145-147)gcA>gcG	p.A49A	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	49					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAGGAGACGTTGCCTCCTGGT	0.498																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NaN																	0				ovary(2)|skin(1)	3						c.(145-147)GCA>GCG		zona pellucida glycoprotein 4 preproprotein							71.0	67.0	69.0					1																	238053789		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053789T>C	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.147A>G	1.37:g.238053789T>C						LOC100130331_uc010pyc.1_Intron	p.A49A	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		1	147	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	49			Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.147A>G	CCDS1615.1																																																																																				0.498	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1				4	34	0	0	0	0.000602	0	4	34		
CHRM3	1131	broad.mit.edu	37	1	240071762	240071762	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:240071762G>C	ENST00000255380.4	+	5	1790	c.1011G>C	c.(1009-1011)tgG>tgC	p.W337C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	337					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTGACAGTTGGAACAACAATG	0.572																																						uc001hyp.2		NaN																	0				ovary(4)|skin(1)	5						c.(1009-1011)TGG>TGC		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						51.0	43.0	46.0					1																	240071762		2203	4299	6502	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071762G>C	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1011G>C	1.37:g.240071762G>C	ENSP00000255380:p.Trp337Cys						p.W337C	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1790	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	337			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1011G>C	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745004	0.69418	.	.	ENSG00000133019	ENST00000255380	T	0.63255	-0.03	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.066157	0.64402	D	0.000004	T	0.73575	0.3604	L	0.54323	1.7	0.80722	D	1	B	0.33477	0.413	P	0.49047	0.599	T	0.70174	-0.4944	10	0.51188	T	0.08	-8.7528	20.4238	0.99064	0.0:0.0:1.0:0.0	.	337	P20309	ACM3_HUMAN	C	337	ENSP00000255380:W337C	ENSP00000255380:W337C	W	+	3	0	CHRM3	238138385	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.828000	0.97474	0.655000	0.94253	TGG		0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740		7	13	0	0	0	0.001984	0	7	13		
CHRM3	1131	broad.mit.edu	37	1	240071792	240071792	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:240071792G>A	ENST00000255380.4	+	5	1820	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	347					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCCCTGGAGAACTCCGCCT	0.572																																						uc001hyp.2		NaN																	0				ovary(4)|skin(1)	5						c.(1039-1041)GAG>GAA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						40.0	33.0	35.0					1																	240071792		2202	4299	6501	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071792G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1041G>A	1.37:g.240071792G>A							p.E347E	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1820	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	347			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.1041G>A	CCDS1616.1																																																																																				0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2		NM_000740		5	9	0	0	0	0.001168	0	5	9		
NLRP3	114548	broad.mit.edu	37	1	247588705	247588705	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:247588705G>A	ENST00000336119.3	+	3	2706	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	NLRP3_ENST00000366496.2_Missense_Mutation_p.E654K|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.E654K|NLRP3_ENST00000366497.2_Missense_Mutation_p.E654K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E654K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E654K	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	654					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCCCAAGATTGAGATCAATCT	0.498																																						uc001icr.2		NaN																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1960-1962)GAG>AAG		NLR family, pyrin domain containing 3 isoform a							95.0	81.0	86.0					1																	247588705		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588705G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1960G>A	1.37:g.247588705G>A	ENSP00000337383:p.Glu654Lys					NLRP3_uc001ics.2_Missense_Mutation_p.E654K|NLRP3_uc001icu.2_Missense_Mutation_p.E654K|NLRP3_uc001icw.2_Missense_Mutation_p.E654K|NLRP3_uc001icv.2_Missense_Mutation_p.E654K|NLRP3_uc010pyw.1_Missense_Mutation_p.E652K|NLRP3_uc001ict.1_Missense_Mutation_p.E652K	p.E654K	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2098	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	654					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1960G>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	8.461	0.855236	0.17106	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	3.96	3.96	0.45880	.	0.131051	0.35349	N	0.003278	D	0.85150	0.5631	M	0.65975	2.015	0.20703	N	0.999862	P;B;B;B;B	0.40083	0.702;0.009;0.34;0.198;0.23	P;B;B;B;B	0.45071	0.468;0.054;0.113;0.257;0.053	T	0.74515	-0.3640	10	0.06365	T	0.9	.	11.8198	0.52232	0.0:0.0:1.0:0.0	.	654;654;654;654;654	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	K	654	ENSP00000375704:E654K;ENSP00000355453:E654K;ENSP00000337383:E654K;ENSP00000294752:E654K;ENSP00000355452:E654K;ENSP00000375703:E654K	ENSP00000337383:E654K	E	+	1	0	NLRP3	245655328	0.005000	0.15991	0.471000	0.27229	0.794000	0.44872	1.400000	0.34577	2.502000	0.84385	0.655000	0.94253	GAG		0.498	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		NM_004895		11	36	0	0	0	0.008291	0	11	36		
FBXO18	84893	broad.mit.edu	37	10	5955750	5955750	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:5955750A>T	ENST00000362091.4	+	7	1367	c.1252A>T	c.(1252-1254)Aat>Tat	p.N418Y	FBXO18_ENST00000379999.5_Missense_Mutation_p.N469Y|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	418					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TCTTCAGGAGAATTCCTGCAC	0.398																																						uc001iis.2		NaN																	0				ovary(2)|skin(1)	3						c.(1252-1254)AAT>TAT		F-box only protein, helicase, 18 isoform 2							170.0	155.0	160.0					10																	5955750		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5955750A>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1252A>T	10.37:g.5955750A>T	ENSP00000355415:p.Asn418Tyr					FBXO18_uc001iir.2_Missense_Mutation_p.N344Y|FBXO18_uc009xig.2_Missense_Mutation_p.N344Y|FBXO18_uc001iit.2_Missense_Mutation_p.N469Y	p.N418Y	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			7	1347	+			418					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.1252A>T	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570030	0.86542	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80281	-0.1448	9	0.87932	D	0	-21.9528	15.4788	0.75508	1.0:0.0:0.0:0.0	.	469;418;344	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Y	418;155;469;155	.	ENSP00000355415:N418Y	N	+	1	0	FBXO18	5995756	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.801000	0.75170	2.142000	0.66516	0.402000	0.26972	AAT		0.398	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807		5	69	0	0	0	0.001168	0	5	69		
PFKFB3	5209	broad.mit.edu	37	10	6258137	6258137	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:6258137G>T	ENST00000379775.4	+	4	679	c.349G>T	c.(349-351)Gaa>Taa	p.E117*	PFKFB3_ENST00000360521.2_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000536985.1_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000540253.1_Nonsense_Mutation_p.E131*|PFKFB3_ENST00000379785.1_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379782.3_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379789.4_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000317350.4_Nonsense_Mutation_p.E117*	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	117	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCTGGCGAAAGAAGGGGGACA	0.587																																						uc001ije.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(349-351)GAA>TAA		6-phosphofructo-2-kinase/fructose-2,							157.0	130.0	139.0					10																	6258137		2203	4300	6503	SO:0001587	stop_gained	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6258137G>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.349G>T	10.37:g.6258137G>T	ENSP00000369100:p.Glu117*					PFKFB3_uc001ijd.2_Nonsense_Mutation_p.E97*|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Nonsense_Mutation_p.E131*|PFKFB3_uc001ijf.2_Nonsense_Mutation_p.E117*	p.E117*	NM_004566	NP_004557	Q16875	F263_HUMAN			4	733	+			117			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Nonsense_Mutation	SNP	ENST00000379775.4	37	c.349G>T	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176369	0.94846	.	.	ENSG00000170525	ENST00000536985;ENST00000379789;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	0.2543	18.7928	0.91982	0.0:0.0:1.0:0.0	.	.	.	.	X	97;97;131;117;117;117;117;117;117	.	ENSP00000369105:E117X	E	+	1	0	PFKFB3	6298143	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	7.559000	0.82265	2.428000	0.82296	0.591000	0.81541	GAA		0.587	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1				41	51	1	0	8.20599e-20	0.011902	8.81301e-20	41	51		
SUV39H2	79723	broad.mit.edu	37	10	14939477	14939477	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:14939477G>A	ENST00000354919.6	+	3	810	c.810G>A	c.(808-810)aaG>aaA	p.K270K	DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000313519.5_Silent_p.K210K|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	270	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CCCTTGTGAAGATTAAAAGAA	0.388																																						uc001inh.2		NaN																	0				breast(2)|ovary(1)	3						c.(628-630)AAG>AAA		suppressor of variegation 3-9 homolog 2							78.0	73.0	74.0					10																	14939477		2203	4300	6503	SO:0001819	synonymous_variant	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939477G>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.810G>A	10.37:g.14939477G>A						SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Silent_p.K210K|SUV39H2_uc001inj.2_Silent_p.K210K	p.K210K	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	686	+			270			SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Silent	SNP	ENST00000354919.6	37	c.630G>A	CCDS53494.1																																																																																				0.388	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2		NM_024670		12	37	0	0	0	0.001855	0	12	37		
NMT2	9397	broad.mit.edu	37	10	15174885	15174885	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:15174885C>G	ENST00000378165.4	-	6	730	c.650G>C	c.(649-651)aGa>aCa	p.R217T	NMT2_ENST00000378150.1_Missense_Mutation_p.R204T|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Missense_Mutation_p.R29T|NMT2_ENST00000535341.1_Missense_Mutation_p.R204T	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	217					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TGAAGACACTCTGACCCCACA	0.493																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NaN																	0				ovary(1)	1						c.(649-651)AGA>ACA		N-myristoyltransferase 2							79.0	77.0	78.0					10																	15174885		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15174885C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.650G>C	10.37:g.15174885C>G	ENSP00000367407:p.Arg217Thr					NMT2_uc001ioa.1_Missense_Mutation_p.R204T|NMT2_uc009xjo.1_Missense_Mutation_p.R217T|NMT2_uc010qbz.1_Missense_Mutation_p.R29T	p.R217T	NM_004808	NP_004799	O60551	NMT2_HUMAN			6	734	-			217					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.650G>C	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368059	0.95900	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.58940	0.3	5.95	5.95	0.96441	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.045006	0.85682	D	0.000000	D	0.86326	0.5906	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.996	D	0.90529	0.4494	10	0.87932	D	0	-21.7682	20.3731	0.98895	0.0:1.0:0.0:0.0	.	217;204;217	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	T	217;204;248;29;204	ENSP00000367407:R217T	ENSP00000367385:R248T	R	-	2	0	NMT2	15214891	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.776000	0.85560	2.819000	0.97034	0.650000	0.86243	AGA		0.493	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2		NM_004808		16	55	0	0	0	0.003163	0	16	55		
LRRTM3	347731	broad.mit.edu	37	10	68686706	68686706	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:68686706G>A	ENST00000361320.4	+	2	610	c.32G>A	c.(31-33)gGa>gAa	p.G11E	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	11					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTACTGAGCGGATCAGCTGTA	0.418																																						uc001jmz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(31-33)GGA>GAA		leucine rich repeat transmembrane neuronal 3							77.0	71.0	73.0					10																	68686706		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68686706G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.32G>A	10.37:g.68686706G>A	ENSP00000355187:p.Gly11Glu					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G11E	p.G11E	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	582	+			11					A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.32G>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945132	0.53079	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.44881	0.91	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000003	T	0.50939	0.1645	N	0.19112	0.55	0.54753	D	0.99998	D;D	0.76494	0.998;0.999	D;D	0.69307	0.919;0.963	T	0.55010	-0.8207	10	0.66056	D	0.02	.	18.4718	0.90777	0.0:0.0:1.0:0.0	.	11;11	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	E	11	ENSP00000355187:G11E	ENSP00000355187:G11E	G	+	2	0	LRRTM3	68356712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.687000	0.61708	2.729000	0.93468	0.655000	0.94253	GGA		0.418	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2		NM_178011		13	29	0	0	0	0.004007	0	13	29		
POLR3A	11128	broad.mit.edu	37	10	79740028	79740028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:79740028C>A	ENST00000372371.3	-	30	4032	c.3895G>T	c.(3895-3897)Gaa>Taa	p.E1299*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1299					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCAGGACTTCACCCTGCGTC	0.517																																						uc001jzn.2		NaN																	0					0						c.(3895-3897)GAA>TAA		polymerase (RNA) III (DNA directed) polypeptide							132.0	95.0	108.0					10																	79740028		2203	4300	6503	SO:0001587	stop_gained	11128				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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79740028C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3895G>T	10.37:g.79740028C>A	ENSP00000361446:p.Glu1299*						p.E1299*	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		30	3989	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1299					Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	ENST00000372371.3	37	c.3895G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	45	11.647800	0.99586	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.0314	19.1144	0.93332	0.0:1.0:0.0:0.0	.	.	.	.	X	115;1299;1278	.	.	E	-	1	0	POLR3A	79410034	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.062000	0.76706	2.763000	0.94921	0.655000	0.94253	GAA		0.517	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1		NM_007055		16	22	1	0	1.15088e-07	0.004007	1.20305e-07	16	22		
POLR3A	11128	broad.mit.edu	37	10	79741314	79741314	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:79741314C>T	ENST00000372371.3	-	29	3900	c.3763G>A	c.(3763-3765)Gag>Aag	p.E1255K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1255					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGTTTTCTCCACCTACAGA	0.542																																						uc001jzn.2		NaN																	0					0						c.(3763-3765)GAG>AAG		polymerase (RNA) III (DNA directed) polypeptide							259.0	246.0	250.0					10																	79741314		2203	4300	6503	SO:0001583	missense	11128				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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79741314C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.3763G>A	10.37:g.79741314C>T	ENSP00000361446:p.Glu1255Lys						p.E1255K	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		29	3857	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1255					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.3763G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660794	0.67700	.	.	ENSG00000148606	ENST00000539141;ENST00000372371;ENST00000540842	T	0.76060	-0.99	5.37	5.37	0.77165	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	L	0.60012	1.86	0.80722	D	1	B	0.25904	0.137	B	0.26094	0.066	T	0.68078	-0.5504	9	.	.	.	-33.0435	19.0864	0.93204	0.0:1.0:0.0:0.0	.	1255	O14802	RPC1_HUMAN	K	71;1255;1234	ENSP00000361446:E1255K	.	E	-	1	0	POLR3A	79411320	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.144000	0.77357	2.513000	0.84729	0.591000	0.81541	GAG		0.542	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1		NM_007055		127	162	0	0	0	0.01441	0	127	162		
SEC31B	25956	broad.mit.edu	37	10	102249108	102249108	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:102249108C>T	ENST00000370345.3	-	23	3169	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1024	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGGTGAGGCTCATAACTGGAG	0.537																																						uc001krc.1		NaN																	0				ovary(1)	1						c.(3070-3072)ATG>ATA		SEC31 homolog B							82.0	88.0	86.0					10																	102249108		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102249108C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3072G>A	10.37:g.102249108C>T	ENSP00000359370:p.Met1024Ile					SEC31B_uc010qpo.1_Missense_Mutation_p.M1023I|SEC31B_uc001krd.1_Missense_Mutation_p.M561I|SEC31B_uc001krf.1_Missense_Mutation_p.M456I|SEC31B_uc001kre.1_Missense_Mutation_p.M456I	p.M1024I	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	23	3174	-		Colorectal(252;0.117)	1024			Pro-rich.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3072G>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742821	0.49151	.	.	ENSG00000075826	ENST00000370345	T	0.52526	0.66	4.68	4.68	0.58851	.	0.536814	0.21823	N	0.068588	T	0.55210	0.1906	M	0.73962	2.25	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.36030	0.216;0.107	T	0.58284	-0.7663	10	0.46703	T	0.11	0.1427	16.7578	0.85504	0.0:1.0:0.0:0.0	.	1023;1024	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	I	1024	ENSP00000359370:M1024I	ENSP00000359370:M1024I	M	-	3	0	SEC31B	102239098	0.998000	0.40836	0.654000	0.29608	0.949000	0.60115	3.846000	0.55888	2.445000	0.82738	0.561000	0.74099	ATG		0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1		NM_015490		22	37	0	0	0	0.014323	0	22	37		
BTBD16	118663	broad.mit.edu	37	10	124036305	124036305	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:124036305G>A	ENST00000260723.4	+	3	269		c.e3-1		BTBD16_ENST00000368994.2_Silent_p.Q7Q	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16											breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTACCAAGCAGCACAAAGCTC	0.448																																						uc001lgc.1		NaN																	0				skin(1)	1						c.e3-1		BTB (POZ) domain containing 16							84.0	87.0	86.0					10																	124036305		2203	4300	6503	SO:0001630	splice_region_variant	118663							g.chr10:124036305G>A	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.19-1G>A	10.37:g.124036305G>A						BTBD16_uc001lgd.1_Silent_p.Q5Q	p.H7_splice	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN			3	270	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)						A6NM63|Q4VXL1|Q96LN0	Splice_Site	SNP	ENST00000260723.4	37	c.19_splice	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073731	0.20147	.	.	ENSG00000138152	ENST00000260723	.	.	.	4.66	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.27163	N	0.961122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8669	0.35291	0.1013:0.0:0.8987:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTBD16	124026295	0.605000	0.26941	0.007000	0.13788	0.006000	0.05464	2.406000	0.44557	1.332000	0.45431	0.650000	0.86243	.		0.448	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3		NM_144587	Intron	3	97	0	0	0	0.004672	0	3	97		
MMP21	118856	broad.mit.edu	37	10	127464241	127464241	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:127464241G>C	ENST00000368808.3	-	1	149	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	50					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	GAGCAGCGTGGAGGTCGGCAA	0.682																																						uc001liu.2		NaN																	0				ovary(2)	2						c.(148-150)CTC>CTG		matrix metalloproteinase 21 preproprotein							93.0	68.0	76.0					10																	127464241		2203	4300	6503	SO:0001819	synonymous_variant	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127464241G>C	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.150C>G	10.37:g.127464241G>C							p.L50L	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			1	150	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	50					Q5VZP9|Q8NG02	Silent	SNP	ENST00000368808.3	37	c.150C>G	CCDS7647.1																																																																																				0.682	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1				28	28	0	0	0	0.008361	0	28	28		
DOCK1	1793	broad.mit.edu	37	10	129224163	129224163	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:129224163G>A	ENST00000280333.6	+	47	4848	c.4739G>A	c.(4738-4740)aGa>aAa	p.R1580K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1580	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAAGGGATCAGAATCCATGGA	0.493																																						uc001ljt.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4738-4740)AGA>AAA		dedicator of cytokinesis 1							188.0	188.0	188.0					10																	129224163		1919	4141	6060	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129224163G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4739G>A	10.37:g.129224163G>A	ENSP00000280333:p.Arg1580Lys					DOCK1_uc010qun.1_Missense_Mutation_p.R1601K|DOCK1_uc009yaq.2_Missense_Mutation_p.R575K	p.R1580K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	4803	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1580			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4739G>A		.	.	.	.	.	.	.	.	.	.	g	8.530	0.870707	0.17322	.	.	ENSG00000150760	ENST00000280333	T	0.16457	2.34	5.11	5.11	0.69529	.	0.060427	0.64402	D	0.000012	T	0.12305	0.0299	L	0.28649	0.875	0.34479	D	0.703712	B;B;B	0.14805	0.001;0.011;0.006	B;B;B	0.20577	0.013;0.022;0.03	T	0.14896	-1.0456	10	0.12430	T	0.62	.	12.1262	0.53919	0.0777:0.0:0.9223:0.0	.	1580;1646;1580	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	K	1580	ENSP00000280333:R1580K	ENSP00000280333:R1580K	R	+	2	0	DOCK1	129114153	0.997000	0.39634	1.000000	0.80357	0.025000	0.11179	5.569000	0.67391	2.658000	0.90341	0.550000	0.68814	AGA		0.493	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2		NM_001380		39	191	0	0	0	0.005524	0	39	191		
BNIP3	664	broad.mit.edu	37	10	133786615	133786615	+	Missense_Mutation	SNP	G	G	A	rs377253213		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr10:133786615G>A	ENST00000368636.4	-	3	329	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	BNIP3_ENST00000540159.1_Missense_Mutation_p.R69C	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	69					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTCTGCGAGCGAGGTGGGCTT	0.468																																						uc001lkv.1		NaN																	0				lung(1)|skin(1)	2						c.(205-207)CGC>TGC		BCL2/adenovirus E1B 19kD-interacting protein 3		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	208.0	194.0	198.0		205	4.2	1.0	10		198	0,8600		0,0,4300	no	missense	BNIP3	NM_004052.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	69/195	133786615	1,13005	2203	4300	6503	SO:0001583	missense	664				cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity	g.chr10:133786615G>A	U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"""BCL2/adenovirus E1B 19kD-interacting protein 3"""			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.205C>T	10.37:g.133786615G>A	ENSP00000357625:p.Arg69Cys					BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.R69C	p.R69C	NM_004052	NP_004043	Q12983	BNIP3_HUMAN		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	3	331	-		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)	69					O14620|Q96GP0	Missense_Mutation	SNP	ENST00000368636.4	37	c.205C>T	CCDS7663.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809630	0.70797	2.27E-4	0.0	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86463	0.1780	9	0.72032	D	0.01	-14.8152	17.4294	0.87535	0.0:0.0:1.0:0.0	.	69	Q12983	BNIP3_HUMAN	C	69	.	ENSP00000357625:R69C	R	-	1	0	BNIP3	133636605	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.771000	0.62318	2.273000	0.75805	0.655000	0.94253	CGC		0.468	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051039.1				39	118	0	0	0	0.006999	0	39	118		
MRGPRE	116534	broad.mit.edu	37	11	3249790	3249790	+	Silent	SNP	G	G	A	rs369200596		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:3249790G>A	ENST00000389832.5	-	2	546	c.240C>T	c.(238-240)atC>atT	p.I80I	MRGPRE_ENST00000436689.2_Silent_p.I79I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCGGGGACGATGGCCACCA	0.622																																						uc001lxq.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(235-237)ATC>ATT		MAS-related GPR, member E		G		1,4263		0,1,2131	60.0	74.0	69.0		237	-6.3	0.0	11		69	0,8510		0,0,4255	no	coding-synonymous	MRGPRE	NM_001039165.2		0,1,6386	AA,AG,GG		0.0,0.0235,0.0078		79/312	3249790	1,12773	2132	4255	6387	SO:0001819	synonymous_variant	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249790G>A	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.240C>T	11.37:g.3249790G>A							p.I79I	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	547	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	79			Helical; Name=2; (Potential).		Q2M1V7	Silent	SNP	ENST00000389832.5	37	c.237C>T																																																																																					0.622	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5		XM_171536		62	31	0	0	0	0.01441	0	62	31		
CHRNA10	57053	broad.mit.edu	37	11	3687403	3687403	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:3687403G>A	ENST00000250699.2	-	5	1358	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	Y_RNA_ENST00000364409.1_RNA|CHRNA10_ENST00000534359.1_3'UTR|CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	429					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	TGGCCAGGAAGAAGCGGTCCA	0.627																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2		NaN																	0				ovary(1)	1						c.(1285-1287)TTC>TTT		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						60.0	60.0	60.0					11																	3687403		2201	4298	6499	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3687403G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.1287C>T	11.37:g.3687403G>A						CHRNA10_uc010qxt.1_Silent_p.F223F|CHRNA10_uc010qxu.1_Silent_p.F223F	p.F429F	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	5	1359	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	429			Helical; (Potential).			Silent	SNP	ENST00000250699.2	37	c.1287C>T	CCDS7745.1																																																																																				0.627	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2				49	20	0	0	0	0.01441	0	49	20		
OR52B4	143496	broad.mit.edu	37	11	4388815	4388815	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:4388815G>C	ENST00000408920.2	-	1	801	c.711C>G	c.(709-711)caC>caG	p.H237Q		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	237					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGAGCTTTGTGGCAAGCAT	0.443																																						uc010qye.1		NaN																	0					0						c.(709-711)CAC>CAG		olfactory receptor, family 52, subfamily B,							122.0	127.0	125.0					11																	4388815		2071	4220	6291	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388815G>C	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.711C>G	11.37:g.4388815G>C	ENSP00000386160:p.His237Gln						p.H237Q	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	711	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	237			Cytoplasmic (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.711C>G	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	0.170	-1.072923	0.01918	.	.	ENSG00000221996	ENST00000408920	T	0.00198	8.57	5.27	-0.00853	0.14005	GPCR, rhodopsin-like superfamily (1);	0.624604	0.13124	N	0.411946	T	0.00109	0.0003	N	0.17248	0.465	0.20489	N	0.999897	B	0.18013	0.025	B	0.21360	0.034	T	0.07046	-1.0793	10	0.18276	T	0.48	.	2.2058	0.03935	0.2108:0.239:0.4279:0.1223	.	237	Q8NGK2	O52B4_HUMAN	Q	237	ENSP00000386160:H237Q	ENSP00000386160:H237Q	H	-	3	2	OR52B4	4345391	0.001000	0.12720	0.637000	0.29366	0.109000	0.19521	-0.237000	0.08990	-0.138000	0.11434	0.561000	0.74099	CAC		0.443	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3		NM_001005161		8	81	0	0	0	0.00308	0	8	81		
OR51B6	390058	broad.mit.edu	37	11	5373369	5373369	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:5373369T>A	ENST00000380219.1	+	1	632	c.632T>A	c.(631-633)aTc>aAc	p.I211N	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	211					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTTTCTCATCATCTTTTTC	0.443																																						uc010qzb.1		NaN																	0				ovary(1)|skin(1)	2						c.(631-633)ATC>AAC		olfactory receptor, family 51, subfamily B,							234.0	208.0	217.0					11																	5373369		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373369T>A		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.632T>A	11.37:g.5373369T>A	ENSP00000369568:p.Ile211Asn					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.I211N	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	632	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	211			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.632T>A	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	7.185	0.590445	0.13812	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.44881	0.91	5.15	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.245977	0.28247	N	0.016047	T	0.56232	0.1971	M	0.77820	2.39	0.09310	N	1	P	0.40731	0.728	P	0.52159	0.691	T	0.52268	-0.8598	10	0.72032	D	0.01	.	10.9151	0.47131	0.0:0.1454:0.0:0.8546	.	211	Q9H340	O51B6_HUMAN	N	210;211	ENSP00000369568:I211N	ENSP00000369568:I211N	I	+	2	0	OR51B6	5329945	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.051000	0.14141	0.091000	0.17302	-1.481000	0.00988	ATC		0.443	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1		NM_001004750		44	28	0	0	0	0.01441	0	44	28		
DBX1	120237	broad.mit.edu	37	11	20181520	20181520	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:20181520G>A	ENST00000524983.2	-	1	639	c.351C>T	c.(349-351)tcC>tcT	p.S117S	DBX1_ENST00000227256.3_Silent_p.S117S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	117					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGGGCCCCGAGGAGAGGATGG	0.642																																						uc001mpw.1		NaN																	0				ovary(1)	1						c.(349-351)TCC>TCT		developing brain homeobox 1							36.0	36.0	36.0					11																	20181520		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20181520G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.351C>T	11.37:g.20181520G>A							p.S117S	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			1	351	-			117						Silent	SNP	ENST00000524983.2	37	c.351C>T																																																																																					0.642	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2		NM_001029865		4	20	0	0	0	0.009096	0	4	20		
GAS2	2620	broad.mit.edu	37	11	22759311	22759311	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:22759311C>G	ENST00000454584.2	+	5	775	c.470C>G	c.(469-471)gCc>gGc	p.A157G	GAS2_ENST00000433790.1_Missense_Mutation_p.A157G|GAS2_ENST00000278187.3_Missense_Mutation_p.A157G	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	157					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CGGATTGCAGCCAGGTAGGTC	0.468																																						uc009yie.2		NaN																	0				ovary(1)|skin(1)	2						c.(469-471)GCC>GGC		growth arrest-specific 2							143.0	120.0	127.0					11																	22759311		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22759311C>G	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.470C>G	11.37:g.22759311C>G	ENSP00000401145:p.Ala157Gly					GAS2_uc001mqm.2_Missense_Mutation_p.A157G|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.A157G	p.A157G	NM_001143830	NP_001137302	O43903	GAS2_HUMAN			5	776	+			157					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.470C>G	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805103	0.90623	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.64	5.64	0.86602	Calponin homology domain (2);	0.175312	0.51477	D	0.000098	T	0.54481	0.1861	M	0.71036	2.16	0.58432	D	0.999996	P	0.42649	0.786	P	0.48738	0.588	T	0.50346	-0.8839	10	0.34782	T	0.22	-9.4661	17.5008	0.87731	0.0:1.0:0.0:0.0	.	157	O43903	GAS2_HUMAN	G	157	ENSP00000432584:A157G;ENSP00000401145:A157G;ENSP00000278187:A157G;ENSP00000435946:A157G;ENSP00000396708:A157G	ENSP00000278187:A157G	A	+	2	0	GAS2	22715887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.507000	0.66999	2.664000	0.90586	0.650000	0.86243	GCC		0.468	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1		NM_177553		12	52	0	0	0	0.013537	0	12	52		
C11orf49	79096	broad.mit.edu	37	11	47183188	47183188	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:47183188G>A	ENST00000278460.7	+	9	1054	c.995G>A	c.(994-996)tGa>tAa	p.*332*	C11orf49_ENST00000378618.2_Intron|C11orf49_ENST00000536126.1_Silent_p.*235*|C11orf49_ENST00000543718.1_Silent_p.*248*|C11orf49_ENST00000378615.3_Silent_p.*338*|C11orf49_ENST00000395460.2_3'UTR	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	0						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TCGGAGACTTGAGGAGTCCAA	0.622											OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ndp.2		NaN																	0					0						c.(994-996)TGA>TAA		hypothetical protein LOC79096 isoform 3							39.0	39.0	39.0					11																	47183188		2201	4299	6500	SO:0001819	synonymous_variant	79096							g.chr11:47183188G>A	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.995G>A	11.37:g.47183188G>A			OREG0020950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	944	C11orf49_uc001nds.2_Intron|C11orf49_uc001ndq.2_3'UTR|C11orf49_uc001ndr.2_Silent_p.*338*|C11orf49_uc010rgx.1_Silent_p.*235*|C11orf49_uc010rgy.1_Silent_p.*323*|C11orf49_uc010rgz.1_Silent_p.*248*	p.*332*	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN			9	1101	+			332					D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Silent	SNP	ENST00000278460.7	37	c.995G>A	CCDS7925.1																																																																																				0.622	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1		NM_024113		28	10	0	0	0	0.007291	0	28	10		
OR5L1	219437	broad.mit.edu	37	11	55579623	55579623	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:55579623G>A	ENST00000333973.2	+	1	770	c.681G>A	c.(679-681)aaG>aaA	p.K227K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCCTGAAGATGGGCTCTG	0.498																																						uc001nhw.1		NaN																	0				skin(3)|ovary(2)	5						c.(679-681)AAG>AAA		olfactory receptor, family 5, subfamily L,							191.0	157.0	168.0					11																	55579623		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579623G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.681G>A	11.37:g.55579623G>A							p.K227K	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	681	+		all_epithelial(135;0.208)	227			Cytoplasmic (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.681G>A	CCDS31509.1																																																																																				0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1		NM_001004738		24	73	0	0	0	0.00278	0	24	73		
TRIM51	84767	broad.mit.edu	37	11	55658689	55658689	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:55658689G>C	ENST00000449290.2	+	7	1032	c.940G>C	c.(940-942)Gac>Cac	p.D314H	TRIM51_ENST00000244891.3_Missense_Mutation_p.D171H	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	314	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D314Y(1)|p.D155Y(1)									TGTTGGATGTGACCCTCAAGA	0.388																																						uc010rip.1		NaN																	2	Substitution - Missense(2)		kidney(2)		0						c.(940-942)GAC>CAC		SPRY domain containing 5							93.0	101.0	98.0					11																	55658689		2067	3944	6011	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658689G>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.940G>C	11.37:g.55658689G>C	ENSP00000395086:p.Asp314His					SPRYD5_uc010riq.1_Missense_Mutation_p.D171H	p.D314H	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1032	+		all_epithelial(135;0.226)	314			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.940G>C		.	.	.	.	.	.	.	.	.	.	.	9.366	1.069189	0.20147	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09255	3.0;3.0	1.17	-0.818	0.10833	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.19087	0.0458	L	0.53249	1.67	0.20975	N	0.999813	D	0.71674	0.998	D	0.63033	0.91	T	0.14309	-1.0477	9	0.62326	D	0.03	.	4.2288	0.10592	0.0:0.4429:0.5571:0.0	.	314	Q9BSJ1	SPRY5_HUMAN	H	314;171	ENSP00000395086:D314H;ENSP00000244891:D171H	ENSP00000244891:D171H	D	+	1	0	SPRYD5	55415265	0.016000	0.18221	0.147000	0.22382	0.373000	0.29922	0.227000	0.17795	0.500000	0.27991	0.162000	0.16502	GAC		0.388	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681		80	46	0	0	0	0.01441	0	80	46		
PC	5091	broad.mit.edu	37	11	66618514	66618514	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:66618514G>C	ENST00000393958.2	-	16	2313	c.2220C>G	c.(2218-2220)atC>atG	p.I740M	PC_ENST00000529047.1_5'Flank|PC_ENST00000393960.1_Missense_Mutation_p.I740M|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.I740M	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	740	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCACCTTGATGCACAGGA	0.647																																						uc001ojn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(2218-2220)ATC>ATG		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						45.0	42.0	43.0					11																	66618514		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618514G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2220C>G	11.37:g.66618514G>C	ENSP00000377530:p.Ile740Met					PC_uc001ojo.1_Missense_Mutation_p.I740M|PC_uc001ojp.1_Missense_Mutation_p.I740M|PC_uc001ojm.1_5'Flank	p.I740M	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2269	-		Melanoma(852;0.0525)	740			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2220C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791908	0.50102	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98901	-5.22;-5.22;-5.22	5.05	2.0	0.26442	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.106343	0.64402	D	0.000006	D	0.99330	0.9765	H	0.98754	4.32	0.80722	D	1	D	0.59767	0.986	D	0.79108	0.992	D	0.97945	1.0328	10	0.87932	D	0	-30.3818	5.494	0.16791	0.1808:0.0:0.6607:0.1585	.	740	P11498	PYC_HUMAN	M	740	ENSP00000377527:I740M;ENSP00000377530:I740M;ENSP00000377532:I740M	ENSP00000377527:I740M	I	-	3	3	PC	66375090	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	2.186000	0.42593	0.522000	0.28464	0.655000	0.94253	ATC		0.647	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716		37	12	0	0	0	0.003755	0	37	12		
PPP6R3	55291	broad.mit.edu	37	11	68363617	68363617	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:68363617G>A	ENST00000393800.2	+	19	2223	c.1969G>A	c.(1969-1971)Gca>Aca	p.A657T	PPP6R3_ENST00000393801.3_Missense_Mutation_p.A657T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A628T|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A611T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.A425T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A577T|PPP6R3_ENST00000393799.2_Missense_Mutation_p.A657T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A651T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A577T|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A622T	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	657					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAGATGGAGCAAAGCAAGA	0.463																																						uc001onw.2		NaN																	0					0						c.(1969-1971)GCA>ACA		SAPS domain family, member 3 isoform 6							187.0	152.0	164.0					11																	68363617		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68363617G>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1969G>A	11.37:g.68363617G>A	ENSP00000377389:p.Ala657Thr					SAPS3_uc001onv.2_Missense_Mutation_p.A657T|SAPS3_uc001ony.3_Missense_Mutation_p.A628T|SAPS3_uc001onx.2_Missense_Mutation_p.A651T|SAPS3_uc009ysh.2_Missense_Mutation_p.A577T|SAPS3_uc001onu.2_Missense_Mutation_p.A577T|SAPS3_uc010rqc.1_Missense_Mutation_p.A425T|SAPS3_uc010rqd.1_Missense_Mutation_p.A340T|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Missense_Mutation_p.A107T	p.A657T	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		19	2236	+			657					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.1969G>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084171	0.36758	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.24151	1.9;1.89;1.88;1.87;1.89;1.9;1.91;1.87;1.9;1.87;1.89	5.54	2.68	0.31781	.	0.334002	0.35903	N	0.002912	T	0.14442	0.0349	N	0.20986	0.625	0.23156	N	0.998208	B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.12837	0.002;0.0;0.003;0.008;0.002;0.001;0.005;0.003	T	0.28202	-1.0051	10	0.14656	T	0.56	.	9.1346	0.36866	0.3067:0.0:0.6933:0.0	.	340;425;577;628;651;657;657;577	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	T	657;657;425;628;611;651;657;577;577;622;364	ENSP00000377388:A657T;ENSP00000377389:A657T;ENSP00000434429:A425T;ENSP00000431415:A628T;ENSP00000265637:A611T;ENSP00000433058:A651T;ENSP00000377390:A657T;ENSP00000265636:A577T;ENSP00000437329:A577T;ENSP00000433565:A622T;ENSP00000436209:A364T	ENSP00000265636:A577T	A	+	1	0	PPP6R3	68120193	0.997000	0.39634	0.351000	0.25721	0.991000	0.79684	2.533000	0.45667	0.716000	0.32124	0.591000	0.81541	GCA		0.463	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		3	75	0	0	0	0.004672	0	3	75		
USP35	57558	broad.mit.edu	37	11	77921098	77921098	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:77921098G>A	ENST00000529308.1	+	10	2458	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	USP35_ENST00000441408.2_Missense_Mutation_p.E319K|USP35_ENST00000530267.1_Missense_Mutation_p.E301K|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.E464K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	733	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaaaaggaagaagaCAGCCT	0.607																																						uc009yva.1		NaN																	0				lung(2)|ovary(1)	3						c.(2197-2199)GAA>AAA		ubiquitin specific protease 35							72.0	94.0	87.0					11																	77921098		2067	4206	6273	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921098G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2197G>A	11.37:g.77921098G>A	ENSP00000431876:p.Glu733Lys					USP35_uc001oze.2_Missense_Mutation_p.E489K|USP35_uc001ozc.2_Missense_Mutation_p.E301K|USP35_uc010rsp.1_Missense_Mutation_p.E165K|USP35_uc001ozd.2_Missense_Mutation_p.E344K|USP35_uc001ozf.2_Missense_Mutation_p.E464K	p.E733K	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2443	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		733						Missense_Mutation	SNP	ENST00000529308.1	37	c.2197G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.284932	0.05605	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.07216	3.21;3.25;3.25;3.36	4.57	2.7	0.31948	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.653660	0.03382	N	0.200534	T	0.03651	0.0104	N	0.05306	-0.075	0.09310	N	1	B;P	0.34587	0.085;0.458	B;B	0.29176	0.092;0.099	T	0.31530	-0.9940	10	0.05959	T	0.93	-0.5872	5.6626	0.17676	0.0996:0.0:0.7072:0.1932	.	733;319	Q9P2H5;E7EWV7	UBP35_HUMAN;.	K	301;733;319;464	ENSP00000435468:E301K;ENSP00000431876:E733K;ENSP00000400825:E319K;ENSP00000434942:E464K	ENSP00000400825:E319K	E	+	1	0	USP35	77598746	0.012000	0.17670	0.001000	0.08648	0.017000	0.09413	1.942000	0.40243	0.563000	0.29222	-0.169000	0.13324	GAA		0.607	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527		34	20	0	0	0	0.013726	0	34	20		
NOX4	50507	broad.mit.edu	37	11	89106617	89106617	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:89106617A>G	ENST00000263317.4	-	12	1356	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	NOX4_ENST00000534731.1_Missense_Mutation_p.I373T|NOX4_ENST00000535633.1_Missense_Mutation_p.I349T|NOX4_ENST00000528341.1_Missense_Mutation_p.I348T|NOX4_ENST00000527956.1_Missense_Mutation_p.I349T|NOX4_ENST00000532825.1_Missense_Mutation_p.I349T|NOX4_ENST00000531342.1_Missense_Mutation_p.I66T|NOX4_ENST00000413594.2_Missense_Mutation_p.I394T|NOX4_ENST00000375979.3_Missense_Mutation_p.I66T|NOX4_ENST00000343727.5_Missense_Mutation_p.I349T|NOX4_ENST00000527626.1_Missense_Mutation_p.I207T|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.I349T|NOX4_ENST00000424319.1_Missense_Mutation_p.I349T			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	373	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GTCTCCTACTATTTTAAGATG	0.264																																						uc001pct.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1117-1119)ATA>ACA		NADPH oxidase 4 isoform a							100.0	111.0	107.0					11																	89106617		2201	4285	6486	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106617A>G	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1118T>C	11.37:g.89106617A>G	ENSP00000263317:p.Ile373Thr					NOX4_uc009yvr.2_Missense_Mutation_p.I348T|NOX4_uc001pcu.2_Missense_Mutation_p.I299T|NOX4_uc001pcw.2_Missense_Mutation_p.I66T|NOX4_uc001pcx.2_Missense_Mutation_p.I66T|NOX4_uc001pcv.2_Missense_Mutation_p.I373T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.I207T|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.I349T|NOX4_uc009yvq.2_Missense_Mutation_p.I349T	p.I373T	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			12	1357	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	373			FAD-binding FR-type.|Extracellular (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1118T>C	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.381246	0.24944	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93659	-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-2.92;-3.26;-2.83	5.18	5.18	0.71444	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.341267	0.31922	N	0.006855	D	0.84611	0.5510	N	0.02865	-0.47	0.30207	N	0.798042	B;B;P;B;B;B;B	0.39044	0.002;0.007;0.656;0.02;0.154;0.063;0.003	B;B;B;B;B;B;B	0.42959	0.027;0.102;0.403;0.034;0.029;0.074;0.027	T	0.81716	-0.0806	9	.	.	.	-7.2522	12.5716	0.56341	1.0:0.0:0.0:0.0	.	349;207;348;66;66;373;373	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	T	349;349;349;373;373;349;349;349;207;348;394;66;66	ENSP00000412446:I349T;ENSP00000440172:I349T;ENSP00000344747:I349T;ENSP00000436892:I373T;ENSP00000263317:I373T;ENSP00000434924:I349T;ENSP00000433797:I349T;ENSP00000439373:I349T;ENSP00000436093:I207T;ENSP00000436970:I348T;ENSP00000405705:I394T;ENSP00000435039:I66T;ENSP00000365146:I66T	.	I	-	2	0	NOX4	88746265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.807000	0.69157	1.959000	0.56917	0.460000	0.39030	ATA		0.264	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931		104	48	0	0	0	0.01441	0	104	48		
FAT3	120114	broad.mit.edu	37	11	92539552	92539552	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:92539552G>A	ENST00000298047.6	+	11	9135	c.9118G>A	c.(9118-9120)Gaa>Aaa	p.E3040K	FAT3_ENST00000409404.2_Missense_Mutation_p.E3040K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2890K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3040	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTACTTCCTGAAGACATTCC	0.358										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(9118-9120)GAA>AAA		FAT tumor suppressor homolog 3							80.0	73.0	75.0					11																	92539552		1840	4098	5938	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92539552G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9118G>A	11.37:g.92539552G>A	ENSP00000298047:p.Glu3040Lys	TCGA Ovarian(4;0.039)					p.E3040K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			11	9135	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3040			Cadherin 28.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9118G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.494227	0.96339	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.76316	-1.01;-1.01;-1.01	5.84	5.84	0.93424	.	.	.	.	.	D	0.93501	0.7926	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95373	0.8466	9	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	3040	Q8TDW7-3	.	K	3040;3040;2890	ENSP00000298047:E3040K;ENSP00000387040:E3040K;ENSP00000432586:E2890K	ENSP00000298047:E3040K	E	+	1	0	FAT3	92179200	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.394000	0.97261	2.779000	0.95612	0.655000	0.94253	GAA		0.358	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		11	5	0	0	0	0.008291	0	11	5		
VPS11	55823	broad.mit.edu	37	11	118948238	118948238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:118948238G>A	ENST00000300793.6	+	10	1492	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	485					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGTCCACTTTGATGTGGAGAC	0.507																																						uc010ryx.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1453-1455)GAT>AAT		vacuolar protein sorting 11							87.0	85.0	86.0					11																	118948238		1958	4157	6115	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118948238G>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1450G>A	11.37:g.118948238G>A	ENSP00000475301:p.Asp484Asn					VPS11_uc010ryy.1_Missense_Mutation_p.D331N	p.D485N	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	10	1495	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	485			Clathrin.		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1453G>A																																																																																					0.507	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021729		33	12	0	0	0	0.005524	0	33	12		
OR10S1	219873	broad.mit.edu	37	11	123848240	123848240	+	Silent	SNP	A	A	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr11:123848240A>C	ENST00000531945.1	-	1	248	c.159T>G	c.(157-159)gcT>gcG	p.A53A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGATTCCCAGCCACAGTGA	0.532																																						uc001pzm.1		NaN																	0				ovary(1)|skin(1)	2						c.(157-159)GCT>GCG		olfactory receptor, family 10, subfamily S,							52.0	50.0	51.0					11																	123848240		2202	4299	6501	SO:0001819	synonymous_variant	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123848240A>C	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.159T>G	11.37:g.123848240A>C							p.A53A	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	159	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	53			Helical; Name=1; (Potential).		B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	c.159T>G	CCDS31701.1																																																																																				0.532	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2		NM_001004474		14	17	0	0	0	0.00245	0	14	17		
SLC6A13	6540	broad.mit.edu	37	12	344379	344379	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:344379G>A	ENST00000343164.4	-	7	760	c.708C>T	c.(706-708)ttC>ttT	p.F236F	SLC6A13_ENST00000445055.2_Silent_p.F144F	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	236					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGTGGCCGTGAAGTACACCA	0.567																																						uc001qic.1		NaN																	0					0						c.(706-708)TTC>TTT		solute carrier family 6 (neurotransmitter							119.0	105.0	109.0					12																	344379		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:344379G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.708C>T	12.37:g.344379G>A						SLC6A13_uc009zdj.1_Silent_p.F236F|SLC6A13_uc010sdl.1_Silent_p.F144F|SLC6A13_uc010sdm.1_Silent_p.F117F	p.F236F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		7	761	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		236			Helical; Name=5; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.708C>T	CCDS8502.1																																																																																				0.567	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1		NM_016615		5	20	0	0	0	0.001984	0	5	20		
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T	rs527284344		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652																																						uc001qjt.2		NaN																	0				large_intestine(1)	1						c.(415-417)TCG>TTG		leucine-rich repeats and transmembrane domains 2							45.0	51.0	49.0					12																	1940449		2203	4300	6503	SO:0001583	missense	654429					integral to membrane		g.chr12:1940449C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.416C>T	12.37:g.1940449C>T	ENSP00000446278:p.Ser139Leu					CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron	p.S139L	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1222	+	Ovarian(42;0.107)		139			Extracellular (Potential).|LRR 3.		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.416C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.334890	0.01287	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.31510	1.49;1.49;1.49	5.25	1.24	0.21308	.	0.910058	0.09609	N	0.779217	T	0.05686	0.0149	N	0.00205	-1.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36696	-0.9737	10	0.02654	T	1	.	5.421	0.16400	0.0:0.5651:0.1339:0.301	.	139	Q8N967	LRTM2_HUMAN	L	139	ENSP00000446278:S139L;ENSP00000299194:S139L;ENSP00000444737:S139L	ENSP00000299194:S139L	S	+	2	0	LRTM2	1810710	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	1.097000	0.30988	-0.041000	0.13558	0.561000	0.74099	TCG		0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1				20	58	0	0	0	0.010504	0	20	58		
PZP	5858	broad.mit.edu	37	12	9346775	9346775	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:9346775C>G	ENST00000261336.2	-	11	1180	c.1152G>C	c.(1150-1152)gtG>gtC	p.V384V	PZP_ENST00000381997.2_Silent_p.V253V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	384					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGCGTCATTCACAGAGATGA	0.408																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(1150-1152)GTG>GTC		pregnancy-zone protein precursor							180.0	169.0	173.0					12																	9346775		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9346775C>G	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1152G>C	12.37:g.9346775C>G						PZP_uc009zgl.2_Silent_p.V253V	p.V384V	NM_002864	NP_002855					11	1181	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.1152G>C	CCDS8600.1																																																																																				0.408	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		20	38	0	0	0	0.010504	0	20	38		
SCAF11	9169	broad.mit.edu	37	12	46342235	46342235	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:46342235G>C	ENST00000369367.3	-	5	616	c.383C>G	c.(382-384)tCt>tGt	p.S128C	SCAF11_ENST00000419565.2_Missense_Mutation_p.S128C	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	128					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACAGCTTTTAGAATTTTCATG	0.313																																						uc001rox.2		NaN																	0					0						c.(382-384)TCT>TGT		splicing factor, arginine/serine-rich 2,							122.0	110.0	114.0					12																	46342235		1803	4075	5878	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46342235G>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.383C>G	12.37:g.46342235G>C	ENSP00000358374:p.Ser128Cys					SFRS2IP_uc001roy.1_Missense_Mutation_p.S202C	p.S128C	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)	5	670	-	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	128					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.383C>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367430	0.24771	.	.	ENSG00000139218	ENST00000369367;ENST00000419565;ENST00000547018	T;T;T	0.48836	0.8;0.8;0.8	5.76	2.47	0.30058	.	1.038050	0.07717	U	0.943014	T	0.35393	0.0930	L	0.32530	0.975	0.25454	N	0.987971	B	0.12630	0.006	B	0.09377	0.004	T	0.25467	-1.0131	10	0.38643	T	0.18	-2.7378	6.065	0.19858	0.1946:0.1779:0.6274:0.0	.	128	Q99590	SCAFB_HUMAN	C	128;128;68	ENSP00000358374:S128C;ENSP00000413036:S128C;ENSP00000446746:S68C	ENSP00000358374:S128C	S	-	2	0	SCAF11	44628502	1.000000	0.71417	0.865000	0.33974	0.670000	0.39368	0.780000	0.26760	0.754000	0.32968	0.563000	0.77884	TCT		0.313	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719		14	46	0	0	0	0.001855	0	14	46		
SUOX	6821	broad.mit.edu	37	12	56397462	56397462	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:56397462G>C	ENST00000394109.3	+	3	1013	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Missense_Mutation_p.E97Q|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000266971.3_Missense_Mutation_p.E97Q|SUOX_ENST00000356124.4_Missense_Mutation_p.E97Q|SUOX_ENST00000394115.2_Missense_Mutation_p.E97Q			P51687	SUOX_HUMAN	sulfite oxidase	97	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CACCAGCCCTGAGACTGGGAT	0.512																																						uc001six.2		NaN																	0					0						c.(289-291)GAG>CAG		sulfite oxidase precursor							78.0	78.0	78.0					12																	56397462		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397462G>C	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.289G>C	12.37:g.56397462G>C	ENSP00000377668:p.Glu97Gln					SUOX_uc001siy.2_Missense_Mutation_p.E97Q|SUOX_uc001siz.2_Missense_Mutation_p.E97Q|SUOX_uc001sja.2_Missense_Mutation_p.E97Q	p.E97Q	NM_000456	NP_000447	P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		6	615	+			97			Cytochrome b5 heme-binding.			Missense_Mutation	SNP	ENST00000394109.3	37	c.289G>C	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.623074	0.28889	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000552258;ENST00000548274;ENST00000546833;ENST00000394109	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.01	1.26	0.21427	Cytochrome b5 (4);	0.485641	0.21089	N	0.080354	T	0.72285	0.3441	L	0.57536	1.79	0.32982	D	0.523745	B	0.12013	0.005	B	0.08055	0.003	T	0.67405	-0.5679	10	0.46703	T	0.11	-23.704	6.1018	0.20051	0.1805:0.2493:0.5702:0.0	.	97	P51687	SUOX_HUMAN	Q	97	ENSP00000348440:E97Q;ENSP00000266971:E97Q;ENSP00000377674:E97Q;ENSP00000450049:E97Q;ENSP00000450245:E97Q;ENSP00000449872:E97Q;ENSP00000377668:E97Q	ENSP00000266971:E97Q	E	+	1	0	SUOX	54683729	0.316000	0.24580	0.956000	0.39512	0.984000	0.73092	0.609000	0.24238	0.124000	0.18369	0.591000	0.81541	GAG		0.512	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1		NM_000456		19	86	0	0	0	0.007413	0	19	86		
ERBB3	2065	broad.mit.edu	37	12	56486584	56486584	+	Missense_Mutation	SNP	G	G	A	rs570637025		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:56486584G>A	ENST00000267101.3	+	10	1603	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.R329Q	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	388					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AATGTCTTCCGGACAGTACGG	0.458													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20323	0.0		0.0	False		,,,				2504	0.0					uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1162-1164)CGG>CAG		erbB-3 isoform 1 precursor							104.0	103.0	104.0					12																	56486584		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56486584G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1163G>A	12.37:g.56486584G>A	ENSP00000267101:p.Arg388Gln					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R329Q|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjj.1_5'Flank	p.R388Q	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		10	1356	+			388			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1163G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248037	0.39697	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.79033	-1.23;-1.23	5.14	0.283	0.15696	EGF receptor, L domain (1);	0.565883	0.16524	N	0.210667	T	0.62122	0.2402	L	0.28504	0.86	0.80722	D	1	B	0.19935	0.04	B	0.08055	0.003	T	0.50276	-0.8847	10	0.30078	T	0.28	.	9.3676	0.38234	0.4049:0.0:0.5951:0.0	.	388	P21860	ERBB3_HUMAN	Q	388;329	ENSP00000267101:R388Q;ENSP00000408340:R329Q	ENSP00000267101:R388Q	R	+	2	0	ERBB3	54772851	0.001000	0.12720	0.987000	0.45799	0.820000	0.46376	0.174000	0.16743	0.224000	0.20940	-1.119000	0.02030	CGG		0.458	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				12	123	0	0	0	0.00245	0	12	123		
LRP1	4035	broad.mit.edu	37	12	57579595	57579595	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:57579595C>T	ENST00000243077.3	+	41	7211	c.6745C>T	c.(6745-6747)Ccg>Tcg	p.P2249S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2249					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGCACCTCTCCGGGCACCCC	0.577																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(6745-6747)CCG>TCG		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						101.0	95.0	97.0					12																	57579595		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57579595C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6745C>T	12.37:g.57579595C>T	ENSP00000243077:p.Pro2249Ser						p.P2249S	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7211	+			2249			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6745C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537740	0.45176	.	.	ENSG00000123384	ENST00000243077	D	0.89343	-2.5	5.03	5.03	0.67393	Six-bladed beta-propeller, TolB-like (1);	0.159945	0.41605	D	0.000860	T	0.68805	0.3041	N	0.02011	-0.69	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.65928	-0.6049	10	0.09590	T	0.72	.	8.8108	0.34965	0.1672:0.6709:0.1619:0.0	.	2249	Q07954	LRP1_HUMAN	S	2249	ENSP00000243077:P2249S	ENSP00000243077:P2249S	P	+	1	0	LRP1	55865862	0.855000	0.29742	0.995000	0.50966	0.948000	0.59901	3.164000	0.50770	2.340000	0.79590	0.491000	0.48974	CCG		0.577	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		47	44	0	0	0	0.01441	0	47	44		
USP15	9958	broad.mit.edu	37	12	62790135	62790135	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:62790135G>C	ENST00000280377.5	+	20	2689	c.2631G>C	c.(2629-2631)ctG>ctC	p.L877L	USP15_ENST00000393654.3_Silent_p.L852L|USP15_ENST00000353364.3_Silent_p.L848L	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	877	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GCTATAATCTGATTGCTGTTT	0.393																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NaN																	0				ovary(2)|lung(1)	3						c.(2629-2631)CTG>CTC		ubiquitin specific peptidase 15							132.0	122.0	125.0					12																	62790135		2203	4300	6503	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62790135G>C	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2631G>C	12.37:g.62790135G>C						USP15_uc001srb.1_Silent_p.L848L	p.L877L	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	20	2640	+			877					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.2631G>C	CCDS58251.1																																																																																				0.393	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		NM_006313		12	54	0	0	0	0.013537	0	12	54		
CAPS2	84698	broad.mit.edu	37	12	75676043	75676043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:75676043G>A	ENST00000409445.3	-	17	1853	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	CAPS2_ENST00000442339.2_Nonsense_Mutation_p.Q143*|CAPS2_ENST00000393284.3_Nonsense_Mutation_p.Q321*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.Q471*|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	553							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAAATTACTTGAGAATGCTTC	0.284																																						uc001sxk.3		NaN																	0				ovary(2)	2						c.(1657-1659)CAA>TAA		calcyphosine 2							98.0	103.0	102.0					12																	75676043		2202	4300	6502	SO:0001587	stop_gained	84698						calcium ion binding	g.chr12:75676043G>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1657C>T	12.37:g.75676043G>A	ENSP00000386959:p.Gln553*					CAPS2_uc001sxm.3_Nonsense_Mutation_p.Q321*|CAPS2_uc009zsa.2_Nonsense_Mutation_p.Q143*|CAPS2_uc001sxi.3_Nonsense_Mutation_p.Q289*|CAPS2_uc001sxj.3_Nonsense_Mutation_p.Q464*|CAPS2_uc001sxl.3_Nonsense_Mutation_p.Q534*	p.Q553*	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			17	1854	-			553					Q6PH84|Q8N242|Q8NAY5	Nonsense_Mutation	SNP	ENST00000409445.3	37	c.1657C>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	38	7.228913	0.98150	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284;ENST00000442339	.	.	.	5.96	4.12	0.48240	.	0.827421	0.11005	N	0.610094	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5758	13.244	0.60014	0.1304:0.0:0.8696:0.0	.	.	.	.	X	471;553;289;321;143	.	ENSP00000367975:Q289X	Q	-	1	0	CAPS2	73962310	0.994000	0.37717	0.995000	0.50966	0.921000	0.55340	1.802000	0.38853	1.532000	0.49169	0.643000	0.83706	CAA		0.284	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2				21	106	0	0	0	0.010504	0	21	106		
MYF5	4617	broad.mit.edu	37	12	81111211	81111211	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:81111211C>T	ENST00000228644.3	+	1	521	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	123	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGGTGGAGATCCTCAGGAATG	0.597																																						uc001szg.2		NaN																	0				ovary(1)	1						c.(367-369)ATC>ATT		myogenic factor 5							84.0	81.0	82.0					12																	81111211		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111211C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.369C>T	12.37:g.81111211C>T							p.I123I	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	504	+			123			Helix-loop-helix motif.		Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.369C>T	CCDS9020.1																																																																																				0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1		NM_005593		22	134	0	0	0	0.00278	0	22	134		
CCDC38	120935	broad.mit.edu	37	12	96312708	96312708	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:96312708G>C	ENST00000344280.3	-	3	641	c.84C>G	c.(82-84)atC>atG	p.I28M	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	28										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTGAAAAAGATCTTATAAG	0.338																																						uc001tek.1		NaN																	0				skin(1)	1						c.(82-84)ATC>ATG		coiled-coil domain containing 38							152.0	145.0	147.0					12																	96312708		2202	4300	6502	SO:0001583	missense	120935							g.chr12:96312708G>C	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.84C>G	12.37:g.96312708G>C	ENSP00000345470:p.Ile28Met						p.I28M	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			3	318	-			28					Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.84C>G	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015275	0.54468	.	.	ENSG00000165972	ENST00000344280	T	0.35973	1.28	4.85	0.772	0.18510	.	0.821395	0.10624	N	0.653026	T	0.25457	0.0619	L	0.32530	0.975	0.80722	D	1	P	0.49961	0.93	P	0.45506	0.483	T	0.22765	-1.0207	10	0.32370	T	0.25	-5.7822	1.941	0.03346	0.1817:0.1553:0.5031:0.1598	.	28	Q502W7	CCD38_HUMAN	M	28	ENSP00000345470:I28M	ENSP00000345470:I28M	I	-	3	3	CCDC38	94836839	0.995000	0.38212	0.997000	0.53966	0.983000	0.72400	0.409000	0.21082	0.034000	0.15491	0.561000	0.74099	ATC		0.338	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1		NM_182496		12	86	0	0	0	0.001855	0	12	86		
GAS2L3	283431	broad.mit.edu	37	12	101017394	101017394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:101017394C>T	ENST00000539410.1	+	9	1197	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.Q271*|GAS2L3_ENST00000537247.1_Nonsense_Mutation_p.Q167*|GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.Q271*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	271	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GGATACTCTTCAAGGATTTTT	0.378																																						uc001thu.2		NaN																	0				skin(1)	1						c.(811-813)CAA>TAA		growth arrest-specific 2 like 3							143.0	144.0	144.0					12																	101017394		2203	4300	6503	SO:0001587	stop_gained	283431				cell cycle arrest			g.chr12:101017394C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.811C>T	12.37:g.101017394C>T	ENSP00000439672:p.Gln271*					GAS2L3_uc009zty.2_Nonsense_Mutation_p.Q271*|GAS2L3_uc001thv.2_Nonsense_Mutation_p.Q167*	p.Q271*	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			10	1037	+			271			GAR.		B2RCN2	Nonsense_Mutation	SNP	ENST00000539410.1	37	c.811C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	41	8.682263	0.98912	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	.	.	.	5.56	4.67	0.58626	.	0.341510	0.29995	N	0.010661	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-16.9089	15.9025	0.79392	0.1362:0.8638:0.0:0.0	.	.	.	.	X	271;271;167;271	.	ENSP00000266754:Q271X	Q	+	1	0	GAS2L3	99541525	0.998000	0.40836	0.999000	0.59377	0.990000	0.78478	1.553000	0.36255	1.348000	0.45733	0.655000	0.94253	CAA		0.378	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1		NM_174942		74	59	0	0	0	0.01441	0	74	59		
APPL2	55198	broad.mit.edu	37	12	105570747	105570747	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:105570747C>G	ENST00000258530.3	-	19	1944	c.1719G>C	c.(1717-1719)aaG>aaC	p.K573N	APPL2_ENST00000539978.2_Missense_Mutation_p.K530N|APPL2_ENST00000551662.1_Missense_Mutation_p.K579N|APPL2_ENST00000546731.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.K573N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAACCAGTCTCTTGTTTTCTT	0.398																																						uc001tlf.1		NaN																	1	Substitution - Missense(1)		breast(1)	upper_aerodigestive_tract(1)	1						c.(1717-1719)AAG>AAC		adaptor protein, phosphotyrosine interaction, PH							94.0	92.0	93.0					12																	105570747		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105570747C>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1719G>C	12.37:g.105570747C>G	ENSP00000258530:p.Lys573Asn					APPL2_uc010swt.1_Missense_Mutation_p.K530N|APPL2_uc001tlg.1_Missense_Mutation_p.K327N|APPL2_uc010swu.1_Missense_Mutation_p.K579N	p.K573N	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			19	1937	-			573			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1719G>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906580	0.52333	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.69	3.85	0.44370	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.197325	0.50627	D	0.000107	T	0.19805	0.0476	L	0.49126	1.545	0.41833	D	0.990089	P;P	0.43392	0.767;0.805	B;B	0.38458	0.193;0.274	T	0.01904	-1.1250	10	0.51188	T	0.08	-29.6515	11.8921	0.52635	0.0:0.8695:0.0:0.1305	.	579;573	F8W1P5;Q8NEU8	.;DP13B_HUMAN	N	573;530;579;104	ENSP00000258530:K573N;ENSP00000444472:K530N;ENSP00000446917:K579N;ENSP00000446510:K104N	ENSP00000258530:K573N	K	-	3	2	APPL2	104094877	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.116000	0.31221	0.743000	0.32719	0.650000	0.86243	AAG		0.398	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171		30	34	0	0	0	0.007291	0	30	34		
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					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.L372F(2)		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						TTTATCTCTTCTTTTTGAAGA	0.274																																						uc001tlp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	ovary(1)|central_nervous_system(1)	2						c.(1114-1116)CTT>TTT		DNA-directed RNA polymerase III B isoform 1																																				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.chr12:106820987C>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.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_uc001tlq.2_Missense_Mutation_p.L314F	p.L372F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082		6	19	0	0	0	0.00308	0	6	19		
MVK	4598	broad.mit.edu	37	12	110024578	110024578	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:110024578T>C	ENST00000228510.3	+	7	727	c.651T>C	c.(649-651)caT>caC	p.H217H	MVK_ENST00000539575.1_Silent_p.H165H|MVK_ENST00000541384.1_Silent_p.H23H|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Silent_p.H165H	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	217					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCCGATACCATCAAGGGAAGA	0.507																																						uc001toy.3		NaN																	0					0						c.(649-651)CAT>CAC		mevalonate kinase							79.0	78.0	78.0					12																	110024578		2203	4300	6503	SO:0001819	synonymous_variant	4598				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity	g.chr12:110024578T>C	M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.651T>C	12.37:g.110024578T>C						MVK_uc009zvk.2_Silent_p.H217H|MVK_uc010sxr.1_Silent_p.H165H|MVK_uc001toz.3_Silent_p.H23H|MVK_uc001tpc.3_RNA	p.H217H	NM_001114185	NP_001107657	Q03426	KIME_HUMAN			7	835	+			217						Silent	SNP	ENST00000228510.3	37	c.651T>C	CCDS9132.1																																																																																				0.507	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403143.1		NM_000431		7	124	0	0	0	0.00308	0	7	124		
C12orf43	64897	broad.mit.edu	37	12	121454205	121454205	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121454205G>C	ENST00000288757.3	-	1	95	c.73C>G	c.(73-75)Cgg>Ggg	p.R25G	C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.R25G|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.R25G	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	25										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCGCGGCACCGCTCCAGCTCC	0.622																																						uc001tzh.1		NaN																	0					0						c.(73-75)CGG>GGG		hypothetical protein LOC64897							48.0	47.0	48.0					12																	121454205		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121454205G>C	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.73C>G	12.37:g.121454205G>C	ENSP00000288757:p.Arg25Gly					C12orf43_uc009zxa.1_Missense_Mutation_p.R25G|C12orf43_uc010szo.1_5'UTR|C12orf43_uc010szp.1_Missense_Mutation_p.R25G|C12orf43_uc001tzi.1_Missense_Mutation_p.R25G	p.R25G	NM_022895	NP_075046	Q96C57	CL043_HUMAN			1	96	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		25					Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.73C>G	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.36|12.36	1.913307|1.913307	0.33815|0.33815	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000536407|ENST00000288757;ENST00000539736	.|T;T	.|0.61627	.|0.13;0.09	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.050578	.|0.85682	.|D	.|0.000000	T|T	0.74876|0.74876	0.3774|0.3774	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.998	T|T	0.77202|0.77202	-0.2674|-0.2674	5|10	.|0.87932	.|D	.|0	-22.6154|-22.6154	14.1151|14.1151	0.65149|0.65149	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|25;25;25	.|G5EA44;B4DWJ9;Q96C57	.|.;.;CL043_HUMAN	G|G	29|25	.|ENSP00000288757:R25G;ENSP00000437803:R25G	.|ENSP00000288757:R25G	A|R	-|-	2|1	0|2	C12orf43|C12orf43	119938588|119938588	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.466000|0.466000	0.32739|0.32739	2.945000|2.945000	0.49043|0.49043	2.778000|2.778000	0.95560|0.95560	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.622	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_022895		5	74	0	0	0	0.001168	0	5	74		
KDM2B	84678	broad.mit.edu	37	12	121867872	121867872	+	3'UTR	SNP	G	G	C	rs556062810		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:121867872G>C	ENST00000377071.4	-	0	4302				KDM2B_ENST00000542973.1_3'UTR|RNF34_ENST00000392464.2_Missense_Mutation_p.E367Q|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B						embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AAATGGTCCAGAAAGCAGTGC	0.483																																						uc001uam.1		NaN																	0					0						c.(1099-1101)GAA>CAA		ring finger protein 34 isoform 2							72.0	72.0	72.0					12																	121867872		1912	4130	6042	SO:0001624	3_prime_UTR_variant	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121867872G>C	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.*219C>G	12.37:g.121867872G>C						KDM2B_uc001uaq.2_3'UTR|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_3'UTR|KDM2B_uc001uas.2_3'UTR|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_3'UTR|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_RNA	p.E367Q	NM_025126	NP_079402	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	7	1213	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.1099G>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	9.960	1.222644	0.22457	.	.	ENSG00000170633	ENST00000392464	T	0.36699	1.24	5.09	2.19	0.27852	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.08046	-1.0741	5	.	.	.	.	3.154	0.06498	0.2674:0.0:0.5325:0.2001	.	.	.	.	Q	367	ENSP00000376257:E367Q	.	E	+	1	0	RNF34	120352255	0.896000	0.30565	1.000000	0.80357	0.992000	0.81027	0.247000	0.18179	0.642000	0.30620	0.655000	0.94253	GAA		0.483	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2		NM_032590		12	59	0	0	0	0.001855	0	12	59		
ULK1	8408	broad.mit.edu	37	12	132403850	132403850	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132403850G>A	ENST00000321867.4	+	24	2956	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K	ULK1_ENST00000540647.1_Missense_Mutation_p.E114K	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	869					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAGCGCCAGTGAGGCGGCGGG	0.682																																						uc001uje.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2605-2607)GAG>AAG		Unc-51-like kinase 1							18.0	20.0	19.0					12																	132403850		2195	4288	6483	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132403850G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2605G>A	12.37:g.132403850G>A	ENSP00000324560:p.Glu869Lys						p.E869K	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	24	2873	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		869					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.2605G>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072483	0.36566	.	.	ENSG00000177169	ENST00000321867;ENST00000541761;ENST00000540647	T;T;T	0.42513	0.97;2.37;0.97	5.13	4.23	0.50019	Serine/threonine-protein kinase, C-terminal (1);	0.444862	0.24050	N	0.042015	T	0.40119	0.1104	M	0.61703	1.905	0.80722	D	1	B	0.34103	0.437	B	0.30646	0.118	T	0.30149	-0.9988	10	0.41790	T	0.15	-23.1542	13.726	0.62759	0.075:0.0:0.925:0.0	.	869	O75385	ULK1_HUMAN	K	869;217;114	ENSP00000324560:E869K;ENSP00000444298:E217K;ENSP00000441794:E114K	ENSP00000324560:E869K	E	+	1	0	ULK1	130969803	0.999000	0.42202	0.775000	0.31657	0.057000	0.15508	2.993000	0.49425	1.155000	0.42497	0.543000	0.68304	GAG		0.682	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3				14	33	0	0	0	0.003163	0	14	33		
PUS1	80324	broad.mit.edu	37	12	132426135	132426135	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132426135G>C	ENST00000376649.3	+	5	1343	c.843G>C	c.(841-843)gtG>gtC	p.V281V	PUS1_ENST00000443358.2_Silent_p.V253V|PUS1_ENST00000542167.2_Silent_p.V228V|PUS1_ENST00000440818.2_Silent_p.V253V|PUS1_ENST00000535067.1_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	281					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGTTTGCGGTGATCAGGGTGA	0.607																																					Esophageal Squamous(102;671 2009 17384 45666)	uc001ujf.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(841-843)GTG>GTC		pseudouridine synthase 1 isoform 1							139.0	133.0	135.0					12																	132426135		2203	4300	6503	SO:0001819	synonymous_variant	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426135G>C	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.843G>C	12.37:g.132426135G>C						PUS1_uc001ujg.2_Silent_p.V253V|PUS1_uc001ujh.2_Silent_p.V253V|PUS1_uc001uji.2_Silent_p.V228V	p.V281V	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	5	1322	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		281					A8K877|B3KQC1|Q8WYT2|Q9BU44	Silent	SNP	ENST00000376649.3	37	c.843G>C	CCDS9275.2																																																																																				0.607	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2		NM_025215		60	56	0	0	0	0.01441	0	60	56		
PUS1	80324	broad.mit.edu	37	12	132426465	132426465	+	Silent	SNP	G	G	C	rs142637371		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:132426465G>C	ENST00000376649.3	+	5	1673	c.1173G>C	c.(1171-1173)ctG>ctC	p.L391L	PUS1_ENST00000443358.2_Silent_p.L363L|PUS1_ENST00000542167.2_Silent_p.L338L|PUS1_ENST00000440818.2_Silent_p.L363L|PUS1_ENST00000535067.1_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	391					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCCAGTGGCTGAGCACCTTGC	0.637																																					Esophageal Squamous(102;671 2009 17384 45666)	uc001ujf.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(1171-1173)CTG>CTC		pseudouridine synthase 1 isoform 1							50.0	33.0	39.0					12																	132426465		2203	4299	6502	SO:0001819	synonymous_variant	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426465G>C	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1173G>C	12.37:g.132426465G>C						PUS1_uc001ujg.2_Silent_p.L363L|PUS1_uc001ujh.2_Silent_p.L363L|PUS1_uc001uji.2_Silent_p.L338L	p.L391L	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	5	1652	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		391					A8K877|B3KQC1|Q8WYT2|Q9BU44	Silent	SNP	ENST00000376649.3	37	c.1173G>C	CCDS9275.2																																																																																				0.637	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2		NM_025215		33	24	0	0	0	0.012213	0	33	24		
SKA3	221150	broad.mit.edu	37	13	21736001	21736001	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:21736001C>T	ENST00000314759.5	-	5	881	c.757G>A	c.(757-759)Gat>Aat	p.D253N	SKA3_ENST00000400018.3_Missense_Mutation_p.D253N	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	253					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GATTCTGTATCTATGGCCTCC	0.363																																						uc001unt.2		NaN																	0					0						c.(757-759)GAT>AAT		SKA3							128.0	130.0	129.0					13																	21736001		2203	4300	6503	SO:0001583	missense	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21736001C>T	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.757G>A	13.37:g.21736001C>T	ENSP00000319417:p.Asp253Asn					SKA3_uc001unv.2_Missense_Mutation_p.D171N|SKA3_uc001unu.2_Missense_Mutation_p.D253N	p.D253N	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			5	851	-			253					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	ENST00000314759.5	37	c.757G>A	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624770	0.14193	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.21031	2.04;2.03	4.99	4.14	0.48551	.	1.202420	0.05664	N	0.587370	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	1	B;B	0.27732	0.187;0.11	B;B	0.24848	0.056;0.056	T	0.16897	-1.0387	10	0.05436	T	0.98	-0.9965	9.8598	0.41107	0.0:0.903:0.0:0.097	.	253;253	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	N	253	ENSP00000319417:D253N;ENSP00000382896:D253N	ENSP00000319417:D253N	D	-	1	0	SKA3	20634001	0.012000	0.17670	0.017000	0.16124	0.027000	0.11550	3.213000	0.51153	1.417000	0.47077	0.591000	0.81541	GAT		0.363	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1		NM_145061		6	15	0	0	0	0.001984	0	6	15		
SUPT20H	55578	broad.mit.edu	37	13	37584737	37584737	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:37584737C>T	ENST00000350612.6	-	25	2374	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q	SUPT20H_ENST00000356185.3_Intron|SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000475892.1_Intron	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	718	Gln-rich.				autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GCTGGAATCTCTGCTGAGGAA	0.463																																						uc001uwg.2		NaN																	0					0						c.(2152-2154)CAG>CAA		family with sequence similarity 48, member A							88.0	87.0	88.0					13																	37584737		2203	4300	6503	SO:0001819	synonymous_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37584737C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2154G>A	13.37:g.37584737C>T						FAM48A_uc010abt.2_Intron|FAM48A_uc001uwh.2_Intron|FAM48A_uc001uwi.2_Intron|FAM48A_uc001uwj.2_Intron|FAM48A_uc001uwk.2_Intron|FAM48A_uc001uwd.2_Intron|FAM48A_uc001uwe.2_Silent_p.Q202Q|FAM48A_uc001uwf.2_Silent_p.Q284Q	p.Q718Q	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	25	2402	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	718			Gln-rich.		E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	ENST00000350612.6	37	c.2154G>A	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	4.514	0.095308	0.08681	.	.	ENSG00000102710	ENST00000469488	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.74442	0.3717	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72364	-0.4316	4	.	.	.	.	18.2303	0.89933	0.0:1.0:0.0:0.0	.	.	.	.	K	261	.	.	R	-	2	0	FAM48A	36482737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.289000	0.59013	2.780000	0.95670	0.655000	0.94253	AGA		0.463	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1		NM_017569		21	56	0	0	0	0.00278	0	21	56		
DIS3	22894	broad.mit.edu	37	13	73334716	73334716	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:73334716G>A	ENST00000377767.4	-	20	2844	c.2744C>T	c.(2743-2745)tCa>tTa	p.S915L	DIS3_ENST00000545453.1_Missense_Mutation_p.S753L|DIS3_ENST00000377780.4_Missense_Mutation_p.S885L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	915					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.S915L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AAGATTAGATGAGTCTAACAT	0.328										Multiple Myeloma(4;0.011)																												uc001vix.3		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2743-2745)TCA>TTA		DIS3 mitotic control isoform a							129.0	119.0	123.0					13																	73334716		2203	4300	6503	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73334716G>A	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2744C>T	13.37:g.73334716G>A	ENSP00000366997:p.Ser915Leu	Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Missense_Mutation_p.S885L|DIS3_uc001viz.2_RNA	p.S915L	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	20	3118	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	915					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.2744C>T	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448580	0.63178	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.22743	1.94;1.94;1.94	5.8	5.8	0.92144	.	0.315308	0.31784	N	0.007080	T	0.17662	0.0424	N	0.20574	0.59	0.39658	D	0.970566	B;B	0.33807	0.426;0.161	B;B	0.36845	0.234;0.118	T	0.06499	-1.0823	10	0.39692	T	0.17	.	16.3167	0.82931	0.0:0.0:0.8673:0.1327	.	885;915	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	L	915;885;753	ENSP00000366997:S915L;ENSP00000367011:S885L;ENSP00000440058:S753L	ENSP00000366997:S915L	S	-	2	0	DIS3	72232717	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.654000	0.54453	2.740000	0.93945	0.650000	0.86243	TCA		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2		NM_014953		53	36	0	0	0	0.01441	0	53	36		
TPP2	7174	broad.mit.edu	37	13	103301811	103301811	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:103301811C>G	ENST00000376065.4	+	23	2963	c.2927C>G	c.(2926-2928)tCa>tGa	p.S976*	TPP2_ENST00000376052.3_Nonsense_Mutation_p.S976*	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	976					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAACATTGTCAAAGACTGAA	0.303																																						uc001vpi.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2926-2928)TCA>TGA		tripeptidyl peptidase II							64.0	66.0	65.0					13																	103301811		2200	4300	6500	SO:0001587	stop_gained	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103301811C>G	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2927C>G	13.37:g.103301811C>G	ENSP00000365233:p.Ser976*						p.S976*	NM_003291	NP_003282	P29144	TPP2_HUMAN			23	3030	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		976					Q5VZU8	Nonsense_Mutation	SNP	ENST00000376065.4	37	c.2927C>G	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	C	42	9.429945	0.99169	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.74	5.74	0.90152	.	0.117284	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	.	.	.	X	976	.	ENSP00000365220:S976X	S	+	2	0	TPP2	102099812	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.294000	0.78760	2.723000	0.93209	0.591000	0.81541	TCA		0.303	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2				12	72	0	0	0	0.004007	0	12	72		
ARHGEF7	8874	broad.mit.edu	37	13	111932947	111932947	+	Missense_Mutation	SNP	G	G	C	rs548029773		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr13:111932947G>C	ENST00000375741.2	+	16	1961	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q	ARHGEF7_ENST00000375723.1_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.E478Q|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.E315Q|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.E468Q|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.E521Q|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.E550Q	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	571	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGAATGGGTGGAGCACCTACA	0.498																																						uc001vrs.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1711-1713)GAG>CAG		PAK-interacting exchange factor beta isoform c							188.0	152.0	164.0					13																	111932947		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111932947G>C	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1711G>C	13.37:g.111932947G>C	ENSP00000364893:p.Glu571Gln					ARHGEF7_uc001vrr.2_Missense_Mutation_p.E550Q|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E521Q|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E393Q|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E393Q|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E468Q|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E315Q|ARHGEF7_uc001vry.1_5'Flank	p.E571Q	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		16	1961	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		571			PH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1711G>C	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844158	0.32606	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.03	4.18	0.49190	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.160074	0.56097	D	0.000039	T	0.75860	0.3907	L	0.48362	1.52	0.80722	D	1	B;B;B;B;B	0.26845	0.002;0.024;0.041;0.161;0.133	B;B;B;P;B	0.45195	0.014;0.086;0.055;0.473;0.14	T	0.69179	-0.5213	10	0.22109	T	0.4	.	13.0124	0.58739	0.0779:0.0:0.922:0.0	.	315;468;521;571;550	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	Q	550;571;521;478;548;393;393;393;393;468;393;315	ENSP00000325994:E550Q;ENSP00000364893:E571Q;ENSP00000364891:E521Q;ENSP00000359657:E478Q;ENSP00000418067:E393Q;ENSP00000218789:E393Q;ENSP00000364888:E393Q;ENSP00000397068:E393Q;ENSP00000364889:E468Q;ENSP00000364875:E393Q;ENSP00000417596:E315Q	ENSP00000218789:E393Q	E	+	1	0	ARHGEF7	110730948	1.000000	0.71417	0.976000	0.42696	0.271000	0.26615	8.904000	0.92590	1.109000	0.41680	0.557000	0.71058	GAG		0.498	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113511		75	78	0	0	0	0.01441	0	75	78		
OR10G2	26534	broad.mit.edu	37	14	22102290	22102290	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:22102290C>A	ENST00000542433.1	-	1	806	c.709G>T	c.(709-711)Gat>Tat	p.D237Y		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CGCCTCCCATCAGCGGTGCGT	0.542																																						uc010tmc.1		NaN																	0				skin(1)	1						c.(709-711)GAT>TAT		olfactory receptor, family 10, subfamily G,							37.0	39.0	39.0					14																	22102290		2186	4253	6439	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102290C>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.709G>T	14.37:g.22102290C>A	ENSP00000445383:p.Asp237Tyr						p.D237Y	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	709	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	237			Cytoplasmic (Potential).		B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.709G>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451427	0.26074	.	.	ENSG00000255582	ENST00000542433	T	0.00145	8.67	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.645425	0.13545	N	0.379926	T	0.00356	0.0011	L	0.53617	1.68	0.28227	N	0.926288	D	0.61080	0.989	D	0.67900	0.954	T	0.60214	-0.7307	10	0.87932	D	0	-1.6495	13.4661	0.61254	0.0:1.0:0.0:0.0	.	237	Q8NGC3	O10G2_HUMAN	Y	237	ENSP00000445383:D237Y	ENSP00000445383:D237Y	D	-	1	0	OR10G2	21172130	0.001000	0.12720	0.996000	0.52242	0.290000	0.27261	0.325000	0.19628	2.027000	0.59764	0.557000	0.71058	GAT		0.542	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1				21	24	1	0	7.45023e-12	0.010504	7.9146e-12	21	24		
OR10G2	26534	broad.mit.edu	37	14	22102306	22102306	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:22102306C>T	ENST00000542433.1	-	1	790	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGCGTATCTTCAGGATGGCAT	0.532																																						uc010tmc.1		NaN																	0				skin(1)	1						c.(691-693)CTG>CTA		olfactory receptor, family 10, subfamily G,							46.0	47.0	46.0					14																	22102306		2163	4218	6381	SO:0001819	synonymous_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102306C>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.693G>A	14.37:g.22102306C>T							p.L231L	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	693	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	231			Cytoplasmic (Potential).		B2RPD0	Silent	SNP	ENST00000542433.1	37	c.693G>A	CCDS32047.1																																																																																				0.532	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1				18	24	0	0	0	0.006122	0	18	24		
PSMB5	5693	broad.mit.edu	37	14	23502856	23502856	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:23502856C>G	ENST00000361611.6	-	2	489	c.226G>C	c.(226-228)Gac>Cac	p.D76H	AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000493471.2_Missense_Mutation_p.D76H|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_5'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GCCCTGGAGTCAGCTGCAACT	0.507																																						uc001wii.2		NaN																	0				ovary(1)	1						c.(226-228)GAC>CAC		proteasome beta 5 subunit isoform 1	Bortezomib(DB00188)						41.0	43.0	42.0					14																	23502856		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23502856C>G	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.226G>C	14.37:g.23502856C>G	ENSP00000355325:p.Asp76His					PSMB5_uc001wij.2_Missense_Mutation_p.D76H|PSMB5_uc010tni.1_5'UTR	p.D76H	NM_002797	NP_002788	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	2	490	-	all_cancers(95;3.3e-05)		76					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.226G>C	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716686	0.89205	.	.	ENSG00000100804	ENST00000361611;ENST00000493471	T;T	0.59502	0.26;0.26	4.88	4.88	0.63580	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.90031	0.4135	10	0.87932	D	0	-22.9692	16.8115	0.85722	0.0:1.0:0.0:0.0	.	76;76	P28074-2;P28074	.;PSB5_HUMAN	H	76	ENSP00000355325:D76H;ENSP00000452424:D76H	ENSP00000334973:D76H	D	-	1	0	PSMB5	22572696	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.698000	0.74608	2.237000	0.73441	0.561000	0.74099	GAC		0.507	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4		NM_002797		14	27	0	0	0	0.003163	0	14	27		
INSM2	84684	broad.mit.edu	37	14	36005008	36005008	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:36005008C>G	ENST00000307169.3	+	1	1761	c.1550C>G	c.(1549-1551)tCt>tGt	p.S517C		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGCGGGCCATCTGACGGGAGT	0.627																																						uc001wth.1		NaN																	0				lung(1)|skin(1)	2						c.(1549-1551)TCT>TGT		insulinoma-associated protein IA-6							20.0	23.0	22.0					14																	36005008		2200	4294	6494	SO:0001583	missense	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36005008C>G	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1550C>G	14.37:g.36005008C>G	ENSP00000306523:p.Ser517Cys						p.S517C	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1761	+	Breast(36;0.122)|Hepatocellular(127;0.158)		517					A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	c.1550C>G	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636806	0.29068	.	.	ENSG00000168348	ENST00000307169	T	0.00882	5.58	4.84	4.84	0.62591	.	0.910757	0.08926	N	0.873755	T	0.01092	0.0036	N	0.19112	0.55	0.09310	N	1	P	0.38642	0.641	B	0.40702	0.338	T	0.54091	-0.8345	10	0.72032	D	0.01	-4.5059	6.8352	0.23933	0.0:0.729:0.1789:0.0922	.	517	Q96T92	INSM2_HUMAN	C	517	ENSP00000306523:S517C	ENSP00000306523:S517C	S	+	2	0	INSM2	35074759	0.009000	0.17119	0.006000	0.13384	0.879000	0.50718	2.196000	0.42686	2.507000	0.84556	0.555000	0.69702	TCT		0.627	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1				12	22	0	0	0	0.010729	0	12	22		
HIF1A	3091	broad.mit.edu	37	14	62207727	62207727	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:62207727G>A	ENST00000337138.4	+	12	2179	c.1914G>A	c.(1912-1914)ttG>ttA	p.L638L	HIF1A_ENST00000557538.1_Silent_p.L579L|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Silent_p.L638L|HIF1A_ENST00000394997.1_Silent_p.L639L|HIF1A_ENST00000539097.1_Silent_p.L662L|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	638	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTAAAATATTGATTGCATCTC	0.408																																						uc001xfq.2		NaN																	0				kidney(3)|lung(1)	4						c.(1912-1914)TTG>TTA		hypoxia-inducible factor 1, alpha subunit							108.0	100.0	102.0					14																	62207727		2203	4300	6503	SO:0001819	synonymous_variant	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62207727G>A	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1914G>A	14.37:g.62207727G>A						HIF1A_uc001xfr.2_Silent_p.L638L|HIF1A_uc001xfs.2_Silent_p.L639L	p.L638L	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	12	2318	+			638			ID.		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	ENST00000337138.4	37	c.1914G>A	CCDS9753.1																																																																																				0.408	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2		NM_001530		27	28	0	0	0	0.005443	0	27	28		
CYP46A1	10858	broad.mit.edu	37	14	100157465	100157465	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr14:100157465G>A	ENST00000261835.3	+	2	271	c.167G>A	c.(166-168)gGt>gAt	p.G56D	CYP46A1_ENST00000423126.2_5'UTR|RP11-543C4.3_ENST00000555875.1_lincRNA	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	56					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GATGAGGTTGGTGGCCGTGTG	0.493																																						uc001ygo.2		NaN																	0					0						c.(166-168)GGT>GAT		cytochrome P450, family 46							382.0	303.0	330.0					14																	100157465		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100157465G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.167G>A	14.37:g.100157465G>A	ENSP00000261835:p.Gly56Asp					CYP46A1_uc001ygn.1_Missense_Mutation_p.V4M	p.G56D	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			2	167	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	56					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.167G>A	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.922|3.922	-0.017895|-0.017895	0.07681|0.07681	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000261835|ENST00000380228	T|.	0.72394|.	-0.65|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.770342|.	0.12113|.	N|.	0.498366|.	T|.	0.30541|.	0.0768|.	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|.	0.11743|.	-1.0575|.	10|.	0.12103|.	T|.	0.63|.	.|.	11.097|11.097	0.48150|0.48150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	56|.	Q9Y6A2|.	CP46A_HUMAN|.	D|X	56|42	ENSP00000261835:G56D|.	ENSP00000261835:G56D|.	G|W	+|+	2|3	0|0	CYP46A1|CYP46A1	99227218|99227218	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.951000|1.951000	0.40333|0.40333	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.493	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1				38	66	0	0	0	0.010771	0	38	66		
GCHFR	2644	broad.mit.edu	37	15	41056393	41056393	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:41056393C>T	ENST00000260447.4	+	1	176	c.15C>T	c.(13-15)ctC>ctT	p.L5L	GCHFR_ENST00000559932.1_5'Flank|GCHFR_ENST00000559445.1_Silent_p.L5L|GCHFR_ENST00000558467.1_5'Flank|GCHFR_ENST00000561160.1_Silent_p.L5L|GCHFR_ENST00000558670.1_3'UTR	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	5					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CCTACCTGCTCATCAGCACCC	0.701																																						uc001zmr.1		NaN																	0				ovary(1)	1						c.(13-15)CTC>CTT		GTP cyclohydrolase I feedback regulatory							20.0	17.0	18.0					15																	41056393		2173	4257	6430	SO:0001819	synonymous_variant	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41056393C>T	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"""GTP cyclohydrolase I feedback regulatory protein"""			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.15C>T	15.37:g.41056393C>T						GCHFR_uc010ucr.1_Silent_p.L5L	p.L5L	NM_005258	NP_005249	P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	109	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	5					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Silent	SNP	ENST00000260447.4	37	c.15C>T	CCDS10064.1																																																																																				0.701	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2		NM_005258		4	1	0	0	0	0.009096	0	4	1		
GCHFR	2644	broad.mit.edu	37	15	41056396	41056396	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:41056396C>T	ENST00000260447.4	+	1	179	c.18C>T	c.(16-18)atC>atT	p.I6I	GCHFR_ENST00000559932.1_5'Flank|GCHFR_ENST00000559445.1_Silent_p.I6I|GCHFR_ENST00000558467.1_5'Flank|GCHFR_ENST00000561160.1_Silent_p.I6I|GCHFR_ENST00000558670.1_3'UTR	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	6					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACCTGCTCATCAGCACCCAGA	0.701																																						uc001zmr.1		NaN																	0				ovary(1)	1						c.(16-18)ATC>ATT		GTP cyclohydrolase I feedback regulatory							20.0	18.0	18.0					15																	41056396		2174	4261	6435	SO:0001819	synonymous_variant	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41056396C>T	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"""GTP cyclohydrolase I feedback regulatory protein"""			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.18C>T	15.37:g.41056396C>T						GCHFR_uc010ucr.1_Silent_p.I6I	p.I6I	NM_005258	NP_005249	P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	112	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	6					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Silent	SNP	ENST00000260447.4	37	c.18C>T	CCDS10064.1																																																																																				0.701	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2		NM_005258		5	1	0	0	0	0.000602	0	5	1		
UNC13C	440279	broad.mit.edu	37	15	54630580	54630580	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:54630580C>T	ENST00000260323.11	+	16	4606	c.4606C>T	c.(4606-4608)Cca>Tca	p.P1536S	UNC13C_ENST00000545554.1_Missense_Mutation_p.P1536S|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1534S	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1536					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAAAGCCCCCCAAAAGCGAG	0.403																																						uc002ack.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(4606-4608)CCA>TCA		unc-13 homolog C							142.0	144.0	143.0					15																	54630580		1877	4107	5984	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54630580C>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4606C>T	15.37:g.54630580C>T	ENSP00000260323:p.Pro1536Ser					UNC13C_uc002acl.2_Missense_Mutation_p.P366S	p.P1536S	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	15	4606	+			1536					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4606C>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506329	0.64410	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82711	-1.63;-1.64;-1.63	4.72	4.72	0.59763	.	0.060147	0.64402	D	0.000002	D	0.90607	0.7055	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.978;1.0	D;D	0.83275	0.936;0.996	D	0.90962	0.4813	10	0.54805	T	0.06	.	15.5558	0.76192	0.0:1.0:0.0:0.0	.	1536;1536	F5H090;Q8NB66	.;UN13C_HUMAN	S	1536;1536;1534	ENSP00000260323:P1536S;ENSP00000438156:P1536S;ENSP00000442569:P1534S	ENSP00000260323:P1536S	P	+	1	0	UNC13C	52417872	1.000000	0.71417	0.963000	0.40424	0.462000	0.32619	7.428000	0.80296	2.606000	0.88127	0.563000	0.77884	CCA		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3		NM_173166		53	35	0	0	0	0.01441	0	53	35		
RNF111	54778	broad.mit.edu	37	15	59350651	59350651	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350651C>T	ENST00000557998.1	+	5	1555	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	RNF111_ENST00000348370.4_Missense_Mutation_p.S423F|RNF111_ENST00000559209.1_Missense_Mutation_p.S423F|RNF111_ENST00000561186.1_Missense_Mutation_p.S423F|RNF111_ENST00000434298.1_Missense_Mutation_p.S423F	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	423	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GAGCAGGCCTCTGATACTGCT	0.458																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NaN																	0				ovary(2)	2						c.(1267-1269)TCT>TTT		ring finger protein 111							255.0	254.0	254.0					15																	59350651		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59350651C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1268C>T	15.37:g.59350651C>T	ENSP00000452732:p.Ser423Phe					RNF111_uc002afs.2_Missense_Mutation_p.S423F|RNF111_uc002aft.2_Missense_Mutation_p.S423F|RNF111_uc002afu.2_Missense_Mutation_p.S423F|RNF111_uc002afw.2_Missense_Mutation_p.S423F	p.S423F	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	5	1547	+			423			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1268C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538947	0.65085	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15952	2.38;2.38	5.98	5.98	0.97165	.	0.153328	0.64402	D	0.000012	T	0.17662	0.0424	L	0.29908	0.895	0.53005	D	0.999968	B;B;B	0.19331	0.035;0.016;0.028	B;B;B	0.19391	0.025;0.008;0.018	T	0.02698	-1.1122	10	0.87932	D	0	-20.3978	19.4247	0.94737	0.0:1.0:0.0:0.0	.	423;423;423	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	F	423	ENSP00000288199:S423F;ENSP00000393641:S423F	ENSP00000288199:S423F	S	+	2	0	RNF111	57137943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.232000	0.58645	2.843000	0.97960	0.585000	0.79938	TCT		0.458	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1		NM_017610		154	113	0	0	0	0.01441	0	154	113		
RNF111	54778	broad.mit.edu	37	15	59350705	59350705	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350705C>T	ENST00000557998.1	+	5	1609	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L	RNF111_ENST00000348370.4_Missense_Mutation_p.S441L|RNF111_ENST00000559209.1_Missense_Mutation_p.S441L|RNF111_ENST00000561186.1_Missense_Mutation_p.S441L|RNF111_ENST00000434298.1_Missense_Mutation_p.S441L	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	441	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCAGAGACTTCAGCTACTCTT	0.448																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NaN																	0				ovary(2)	2						c.(1321-1323)TCA>TTA		ring finger protein 111							228.0	228.0	228.0					15																	59350705		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59350705C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1322C>T	15.37:g.59350705C>T	ENSP00000452732:p.Ser441Leu					RNF111_uc002afs.2_Missense_Mutation_p.S441L|RNF111_uc002aft.2_Missense_Mutation_p.S441L|RNF111_uc002afu.2_Missense_Mutation_p.S441L|RNF111_uc002afw.2_Missense_Mutation_p.S441L	p.S441L	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	5	1601	+			441			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1322C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048435	0.55110	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.14766	2.48;2.49	5.35	3.37	0.38596	.	0.411149	0.28098	N	0.016614	T	0.09423	0.0232	N	0.24115	0.695	0.21802	N	0.999534	B;B;B	0.15930	0.0;0.009;0.015	B;B;B	0.12837	0.0;0.004;0.008	T	0.23440	-1.0188	10	0.52906	T	0.07	-2.8893	9.1565	0.36996	0.1444:0.7737:0.0:0.0819	.	441;441;441	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	L	441	ENSP00000288199:S441L;ENSP00000393641:S441L	ENSP00000288199:S441L	S	+	2	0	RNF111	57137997	0.040000	0.19996	0.998000	0.56505	0.995000	0.86356	1.079000	0.30766	0.815000	0.34398	0.585000	0.79938	TCA		0.448	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1		NM_017610		129	112	0	0	0	0.01441	0	129	112		
RNF111	54778	broad.mit.edu	37	15	59350741	59350741	+	Missense_Mutation	SNP	C	C	G	rs200024876		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:59350741C>G	ENST00000557998.1	+	5	1645	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C	RNF111_ENST00000348370.4_Missense_Mutation_p.S453C|RNF111_ENST00000559209.1_Missense_Mutation_p.S453C|RNF111_ENST00000561186.1_Missense_Mutation_p.S453C|RNF111_ENST00000434298.1_Missense_Mutation_p.S453C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	453	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACTGGCACTTCTATAGGAGGT	0.413																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2		NaN																	0				ovary(2)	2						c.(1357-1359)TCT>TGT		ring finger protein 111							150.0	156.0	154.0					15																	59350741		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59350741C>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1358C>G	15.37:g.59350741C>G	ENSP00000452732:p.Ser453Cys					RNF111_uc002afs.2_Missense_Mutation_p.S453C|RNF111_uc002aft.2_Missense_Mutation_p.S453C|RNF111_uc002afu.2_Missense_Mutation_p.S453C|RNF111_uc002afw.2_Missense_Mutation_p.S453C	p.S453C	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	5	1637	+			453			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1358C>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995220	0.93167	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.16196	2.36;2.37	6.07	6.07	0.98685	.	0.181349	0.49916	D	0.000122	T	0.30510	0.0767	L	0.27053	0.805	0.43890	D	0.996519	D;D;D	0.65815	0.995;0.976;0.995	D;P;D	0.63192	0.912;0.628;0.912	T	0.01127	-1.1443	10	0.87932	D	0	-16.3593	19.6407	0.95757	0.0:1.0:0.0:0.0	.	453;453;453	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	453	ENSP00000288199:S453C;ENSP00000393641:S453C	ENSP00000288199:S453C	S	+	2	0	RNF111	57138033	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	5.921000	0.70028	2.890000	0.99128	0.585000	0.79938	TCT		0.413	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1		NM_017610		118	78	0	0	0	0.01441	0	118	78		
AGBL1	123624	broad.mit.edu	37	15	86790936	86790936	+	Silent	SNP	C	C	T	rs371409529		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr15:86790936C>T	ENST00000441037.2	+	6	518	c.423C>T	c.(421-423)taC>taT	p.Y141Y	AGBL1_ENST00000421325.2_Silent_p.Y141Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	141					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACCGAGGCTACGTCACCAGCC	0.597																																						uc002blz.1		NaN																	0					0						c.(421-423)TAC>TAT		ATP/GTP binding protein-like 1							25.0	27.0	26.0					15																	86790936		2139	4253	6392	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86790936C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.423C>T	15.37:g.86790936C>T							p.Y141Y	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			6	503	+			141					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.423C>T	CCDS58398.1																																																																																				0.597	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336		10	8	0	0	0	0.006214	0	10	8		
UBN1	29855	broad.mit.edu	37	16	4908646	4908646	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:4908646C>T	ENST00000396658.4	+	3	1117	c.414C>T	c.(412-414)ttC>ttT	p.F138F	UBN1_ENST00000262376.6_Silent_p.F138F|UBN1_ENST00000590769.1_Silent_p.F138F|UBN1_ENST00000545171.1_Silent_p.F138F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	138	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCGACTCCTTCATCGATAACT	0.463																																						uc002cyb.2		NaN																	0				skin(2)	2						c.(412-414)TTC>TTT		ubinuclein 1							140.0	122.0	128.0					16																	4908646		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4908646C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.414C>T	16.37:g.4908646C>T						UBN1_uc010uxw.1_Silent_p.F138F|UBN1_uc002cyc.2_Silent_p.F138F	p.F138F	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			4	753	+			138	F->E: Strongly diminishes interaction with HIRA; when associated with E-139 and L-140.		Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.414C>T	CCDS10525.1																																																																																				0.463	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936		10	16	0	0	0	0.006214	0	10	16		
INO80E	283899	broad.mit.edu	37	16	30007659	30007659	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:30007659G>C	ENST00000563197.1	+	1	1045	c.28G>C	c.(28-30)Gac>Cac	p.D10H	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000563040.1_3'UTR|HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000567254.1_Missense_Mutation_p.D10H|INO80E_ENST00000567705.1_Missense_Mutation_p.D10H|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000304516.7_Missense_Mutation_p.D10H	NM_173618.1	NP_775889.1	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	10					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CGGCGAAGTGGACTACAAAAA	0.652																																						uc002dvg.1		NaN																	0				skin(1)	1						c.(28-30)GAC>CAC		INO80 complex subunit E							26.0	29.0	28.0					16																	30007659		2186	4278	6464	SO:0001583	missense	283899				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex		g.chr16:30007659G>C	AK075133	CCDS10665.1	16p11.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000169592	ENSG00000169592		"""INO80 complex subunits"""	26905	protein-coding gene	gene with protein product			"""coiled-coil domain containing 95"""	CCDC95		16230350	Standard	NM_173618		Approved	FLJ90652	uc002dvg.1	Q8NBZ0	OTTHUMG00000132114	ENST00000563197.1:c.28G>C	16.37:g.30007659G>C	ENSP00000457016:p.Asp10His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Missense_Mutation_p.D10H|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Missense_Mutation_p.D10H|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank	p.D10H	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN			1	129	+			10			Potential.		Q6Y2K3	Missense_Mutation	SNP	ENST00000563197.1	37	c.28G>C	CCDS10665.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260922	0.95368	.	.	ENSG00000169592	ENST00000304516;ENST00000380503;ENST00000540562	.	.	.	5.22	5.22	0.72569	.	0.051798	0.85682	D	0.000000	T	0.74824	0.3767	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.76310	-0.3006	9	0.72032	D	0.01	-21.0411	16.3224	0.82956	0.0:0.0:1.0:0.0	.	34;10;10	Q8TEI7;Q6Y2K3;Q8NBZ0	.;.;IN80E_HUMAN	H	10;34;10	.	ENSP00000303977:D10H	D	+	1	0	INO80E	29915160	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.103000	0.77014	2.713000	0.92767	0.655000	0.94253	GAC		0.652	INO80E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255156.2		NM_173618		5	10	0	0	0	0.001168	0	5	10		
TPPP3	51673	broad.mit.edu	37	16	67424463	67424463	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:67424463G>C	ENST00000564104.1	-	2	1102	c.261C>G	c.(259-261)ttC>ttG	p.F87L	TPPP3_ENST00000562206.1_Missense_Mutation_p.F87L|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Missense_Mutation_p.F87L|TPPP3_ENST00000393957.2_Missense_Mutation_p.F87L			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	87					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TCTTCCCCTTGAATCTCTTGG	0.582																																						uc002esz.2		NaN																	0				central_nervous_system(1)	1						c.(259-261)TTC>TTG		tubulin polymerization-promoting protein family							162.0	168.0	166.0					16																	67424463		2198	4300	6498	SO:0001583	missense	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424463G>C	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.261C>G	16.37:g.67424463G>C	ENSP00000462435:p.Phe87Leu					TPPP3_uc002eta.2_Missense_Mutation_p.F87L|TPPP3_uc002etb.2_Missense_Mutation_p.F87L	p.F87L	NM_016140	NP_057224	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	2	1096	-		Ovarian(137;0.0563)	87					Q49AH9|Q9Y326|Q9Y6H0	Missense_Mutation	SNP	ENST00000564104.1	37	c.261C>G	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	g	19.55	3.848917	0.71603	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	T;T	0.43294	0.95;0.95	3.88	1.83	0.25207	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.85710	2.77	0.46849	D	0.999223	D	0.57899	0.981	D	0.72338	0.977	T	0.59085	-0.7520	10	0.33940	T	0.23	-20.6084	7.6278	0.28222	0.3647:0.0:0.6353:0.0	.	87	Q9BW30	TPPP3_HUMAN	L	87	ENSP00000377529:F87L;ENSP00000290942:F87L	ENSP00000290942:F87L	F	-	3	2	TPPP3	65981964	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.502000	0.35704	0.845000	0.35118	0.457000	0.33378	TTC		0.582	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2		NM_015964		158	88	0	0	0	0.01441	0	158	88		
SLC12A4	6560	broad.mit.edu	37	16	67986272	67986272	+	Silent	SNP	C	C	A	rs372226074		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:67986272C>A	ENST00000316341.3	-	7	872	c.732G>T	c.(730-732)tcG>tcT	p.S244S	SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000422611.2_Silent_p.S246S|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000576616.1_Silent_p.S244S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	244					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453																																						uc002euz.2		NaN																	0				ovary(1)	1						c.(730-732)TCG>TCT		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						185.0	171.0	176.0					16																	67986272		2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986272C>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.732G>T	16.37:g.67986272C>A						SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_Missense_Mutation_p.R166L	p.S244S	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	7	873	-		Ovarian(137;0.192)	244					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.732G>T	CCDS10855.1																																																																																				0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072		44	16	1	0	1.32136e-16	0.00874	1.41522e-16	44	16		
NIP7	51388	broad.mit.edu	37	16	69373430	69373430	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs372024004		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:69373430G>A	ENST00000254940.5	+	0	98				NIP7_ENST00000569637.2_5'Flank|RP11-343C2.9_ENST00000563634.1_Intron|COG8_ENST00000562081.1_Missense_Mutation_p.S9L|NIP7_ENST00000254941.6_5'Flank|COG8_ENST00000306875.4_Missense_Mutation_p.S9L|RP11-343C2.7_ENST00000564737.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein						ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				CGTGGCTACCGATGGGATAGT	0.652											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ewy.2		NaN																	0				ovary(1)	1						c.(25-27)TCG>TTG		component of oligomeric golgi complex 8		G	,,LEU/SER	0,4382		0,0,2191	19.0	17.0	18.0		,,26	3.9	0.0	16		18	1,8577		0,1,4288	no	utr-5,utr-5,missense	NIP7,COG8	NM_001199434.1,NM_016101.4,NM_032382.4	,,145	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	,,benign	,,9/613	69373430	1,12959	2191	4289	6480			84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69373430G>A	AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.-303G>A	16.37:g.69373430G>A			OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1114	COG8_uc002ewz.3_Missense_Mutation_p.S9L|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	p.S9L	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			1	97	-			9					B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	c.26C>T	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874521	0.51695	0.0	1.17E-4	ENSG00000213380	ENST00000306875	T	0.48836	0.8	4.9	3.94	0.45596	.	2.742250	0.01240	N	0.008592	T	0.42268	0.1195	N	0.22421	0.69	0.47584	D	0.999465	B;B	0.22003	0.063;0.0	B;B	0.16722	0.016;0.001	T	0.03025	-1.1081	10	0.48119	T	0.1	3.5863	13.2761	0.60188	0.0773:0.0:0.9227:0.0	.	36;9	B4DYU2;Q96MW5	.;COG8_HUMAN	L	9	ENSP00000305459:S9L	ENSP00000305459:S9L	S	-	2	0	COG8	67930931	0.015000	0.18098	0.001000	0.08648	0.008000	0.06430	2.117000	0.41939	1.297000	0.44761	0.456000	0.33151	TCG		0.652	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2		NM_016101		19	4	0	0	0	0.008871	0	19	4		
ZC3H18	124245	broad.mit.edu	37	16	88677707	88677707	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:88677707G>A	ENST00000301011.5	+	8	1438	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R437K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	413						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagagaacagacagcgcgag	0.647																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(1237-1239)AGA>AAA		zinc finger CCCH-type containing 18							10.0	13.0	12.0					16																	88677707		2048	4132	6180	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677707G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1238G>A	16.37:g.88677707G>A	ENSP00000301011:p.Arg413Lys					ZC3H18_uc010voy.1_Missense_Mutation_p.R296K|ZC3H18_uc010voz.1_Missense_Mutation_p.R437K|ZC3H18_uc010chw.2_RNA	p.R413K	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1438	+			413			Potential.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1238G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.550657	0.65311	.	.	ENSG00000158545	ENST00000301011;ENST00000452588;ENST00000545404	T;T	0.27890	1.64;1.64	4.64	3.68	0.42216	.	0.318893	0.29565	N	0.011784	T	0.30262	0.0759	M	0.65498	2.005	0.39313	D	0.965101	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.06405	0.002;0.002;0.002	T	0.11084	-1.0602	10	0.32370	T	0.25	-9.4912	10.1878	0.43009	0.0964:0.0:0.9036:0.0	.	437;437;413	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	K	413;437;296	ENSP00000301011:R413K;ENSP00000416951:R437K	ENSP00000301011:R413K	R	+	2	0	ZC3H18	87205208	0.959000	0.32827	0.990000	0.47175	0.942000	0.58702	4.767000	0.62286	1.078000	0.41014	0.457000	0.33378	AGA		0.647	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		22	6	0	0	0	0.010504	0	22	6		
TUBB3	10381	broad.mit.edu	37	16	90001896	90001896	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:90001896C>T	ENST00000315491.7	+	4	1160	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	TUBB3_ENST00000554444.1_Missense_Mutation_p.P274L|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000304984.5_Missense_Mutation_p.P274L|TUBB3_ENST00000556922.1_Missense_Mutation_p.P693L	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	346					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GAGTGGATCCCCAACAACGTG	0.612																																						uc002fph.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1036-1038)CCC>CTC		tubulin, beta, 4							187.0	157.0	167.0					16																	90001896		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001896C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1037C>T	16.37:g.90001896C>T	ENSP00000320295:p.Pro346Leu					TUBB3_uc002fpf.2_Missense_Mutation_p.P693L|TUBB3_uc010ciz.1_Missense_Mutation_p.P274L|TUBB3_uc002fpg.1_Missense_Mutation_p.P200L|TUBB3_uc002fpi.1_Missense_Mutation_p.P274L|TUBB3_uc002fpj.1_Missense_Mutation_p.P274L|TUBB3_uc010cjb.1_Missense_Mutation_p.P200L|TUBB3_uc002fpk.1_Missense_Mutation_p.P200L	p.P346L	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	1102	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	346					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.1037C>T	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345290	0.61073	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000028	D	0.96522	0.8865	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98137	1.0434	9	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	346;346	Q13509;B2RBD5	TBB3_HUMAN;.	L	693;346;274;274;346	ENSP00000451560:P693L;ENSP00000302777:P274L;ENSP00000451617:P274L;ENSP00000320295:P346L	.	P	+	2	0	RP11-566K11.2;TUBB3	88529397	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.505000	0.81655	2.313000	0.78055	0.561000	0.74099	CCC		0.612	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1		NM_006086		139	60	0	0	0	0.01441	0	139	60		
SMYD4	114826	broad.mit.edu	37	17	1703353	1703353	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:1703353G>C	ENST00000305513.7	-	5	1502	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	445	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CAGAAACACAGAGAGCACAGA	0.453																																						uc002ftm.3		NaN																	0				skin(3)|kidney(2)	5						c.(1333-1335)CTC>CTG		SET and MYND domain containing 4							89.0	82.0	85.0					17																	1703353		2203	4300	6503	SO:0001819	synonymous_variant	114826						zinc ion binding	g.chr17:1703353G>C	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1335C>G	17.37:g.1703353G>C						SMYD4_uc002ftn.1_Silent_p.L300L	p.L445L	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	1503	-			445					Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	ENST00000305513.7	37	c.1335C>G	CCDS11013.1																																																																																				0.453	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4		XM_056082		38	33	0	0	0	0.004289	0	38	33		
ATP1B2	482	broad.mit.edu	37	17	7554879	7554879	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:7554879G>C	ENST00000250111.4	+	1	450	c.43G>C	c.(43-45)Gag>Cag	p.E15Q		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	15					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GCAGGTGGTTGAGGAGTGGAA	0.697																																						uc002gif.1		NaN																	3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|pancreas(1)	2						c.(43-45)GAG>CAG		Na+/K+ -ATPase beta 2 subunit							56.0	45.0	49.0					17																	7554879		2203	4297	6500	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7554879G>C	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.43G>C	17.37:g.7554879G>C	ENSP00000250111:p.Glu15Gln						p.E15Q	NM_001678	NP_001669	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	1	626	+		all_cancers(10;0.000178)|Prostate(122;0.081)	15			Cytoplasmic (Potential).		A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.43G>C	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577016	0.45902	.	.	ENSG00000129244	ENST00000250111	T	0.31247	1.5	4.28	4.28	0.50868	.	0.337581	0.31821	N	0.007016	T	0.27313	0.0670	L	0.38692	1.165	0.34739	D	0.730563	P	0.47841	0.901	P	0.49683	0.619	T	0.16660	-1.0395	10	0.12766	T	0.61	-2.9527	7.9589	0.30060	0.1101:0.0:0.8899:0.0	.	15	P14415	AT1B2_HUMAN	Q	15	ENSP00000250111:E15Q	ENSP00000250111:E15Q	E	+	1	0	ATP1B2	7495604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.564000	0.60830	2.232000	0.73038	0.561000	0.74099	GAG		0.697	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1		NM_001678		2	6	0	0	0	0.004672	0	2	6		
ALOXE3	59344	broad.mit.edu	37	17	8018956	8018956	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:8018956G>A	ENST00000448843.2	-	4	743	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ALOXE3_ENST00000380149.1_Missense_Mutation_p.R291W|ALOXE3_ENST00000318227.3_Missense_Mutation_p.R267W	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	135	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CGGAGCTCCCGTGTCCTGTGA	0.473																																						uc010cnr.2		NaN																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(403-405)CGG>TGG		arachidonate lipoxygenase 3 isoform 2							109.0	103.0	105.0					17																	8018956		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8018956G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.403C>T	17.37:g.8018956G>A	ENSP00000400581:p.Arg135Trp					ALOXE3_uc002gka.2_Missense_Mutation_p.R291W|ALOXE3_uc010vuo.1_Missense_Mutation_p.R267W|ALOXE3_uc010vup.1_RNA	p.R135W	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			4	773	-			135			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.403C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301654	0.60195	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90133	-2.62;-2.62;-2.62	5.44	2.16	0.27623	Lipoxygenase, C-terminal (2);	1.083230	0.06898	N	0.805408	D	0.90349	0.6980	L	0.43152	1.355	0.09310	N	1	D;D;D	0.69078	0.997;0.977;0.977	P;P;P	0.57468	0.821;0.462;0.462	T	0.79715	-0.1687	10	0.87932	D	0	-7.6203	3.2129	0.06689	0.0964:0.1586:0.5599:0.1851	.	267;135;135	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	W	291;267;135	ENSP00000369494:R291W;ENSP00000314879:R267W;ENSP00000400581:R135W	ENSP00000314879:R267W	R	-	1	2	ALOXE3	7959681	0.054000	0.20591	0.155000	0.22561	0.889000	0.51656	1.361000	0.34136	1.285000	0.44548	0.462000	0.41574	CGG		0.473	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1				36	26	0	0	0	0.007835	0	36	26		
NTN1	9423	broad.mit.edu	37	17	8926345	8926345	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:8926345G>A	ENST00000173229.2	+	2	762	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	NTN1_ENST00000546090.1_Missense_Mutation_p.A219T|NTN1_ENST00000538852.1_Missense_Mutation_p.A219T	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	219	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGGCCTCATCGCCTTCAGCAC	0.701																																						uc002glw.3		NaN																	0					0						c.(655-657)GCC>ACC		netrin 1 precursor							12.0	14.0	13.0					17																	8926345		2189	4282	6471	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:8926345G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.655G>A	17.37:g.8926345G>A	ENSP00000173229:p.Ala219Thr						p.A219T	NM_004822	NP_004813	O95631	NET1_HUMAN			2	762	+			219			Laminin N-terminal.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.655G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038683	0.93630	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.76316	-1.01;-1.01;-1.01	5.01	5.01	0.66863	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90249	0.6951	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91666	0.5346	10	0.52906	T	0.07	.	17.9289	0.88991	0.0:0.0:1.0:0.0	.	219	O95631	NET1_HUMAN	T	219	ENSP00000173229:A219T;ENSP00000443259:A219T;ENSP00000441611:A219T	ENSP00000173229:A219T	A	+	1	0	NTN1	8867070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.774000	0.98992	2.320000	0.78422	0.650000	0.86243	GCC		0.701	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1				5	8	0	0	0	0.000602	0	5	8		
TRPV2	51393	broad.mit.edu	37	17	16327060	16327060	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:16327060C>T	ENST00000338560.7	+	5	1302	c.903C>T	c.(901-903)gcC>gcT	p.A301A	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	301	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGAAGCTGGCCGCCAAGGAGG	0.597																																						uc002gpy.2		NaN																	0				ovary(1)	1						c.(901-903)GCC>GCT		transient receptor potential cation channel,							45.0	45.0	45.0					17																	16327060		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16327060C>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.903C>T	17.37:g.16327060C>T						TRPV2_uc002gpz.2_Intron	p.A301A	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	1270	+			301			Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 6.		A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.903C>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	6.685	0.495066	0.12762	.	.	ENSG00000187688	ENST00000455666	.	.	.	6.06	-12.1	0.00011	.	.	.	.	.	T	0.45155	0.1328	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58086	-0.7698	4	.	.	.	-13.7994	8.7978	0.34890	0.1136:0.565:0.0663:0.2551	.	.	.	.	C	259	.	.	R	+	1	0	TRPV2	16267785	0.000000	0.05858	0.240000	0.24138	0.542000	0.35054	-2.928000	0.00690	-2.542000	0.00485	-0.982000	0.02568	CGC		0.597	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2		NM_016113		16	17	0	0	0	0.00499	0	16	17		
PLD6	201164	broad.mit.edu	37	17	17109483	17109483	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:17109483C>T	ENST00000321560.3	-	1	146	c.118G>A	c.(118-120)Gag>Aag	p.E40K	RP11-45M22.4_ENST00000427497.3_Intron	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	40					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						AACAGCGCCTcgcgccgcggc	0.771																																						uc002gqz.2		NaN																	0					0						c.(118-120)GAG>AAG		phospholipase D6							2.0	2.0	2.0					17																	17109483		1216	2672	3888	SO:0001583	missense	201164				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity	g.chr17:17109483C>T	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.118G>A	17.37:g.17109483C>T	ENSP00000317177:p.Glu40Lys					PLD6_uc010cpn.2_Intron	p.E40K	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN			1	150	-			40			Cytoplasmic (Potential).		Q8N5Y1	Missense_Mutation	SNP	ENST00000321560.3	37	c.118G>A	CCDS11182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.79|16.79	3.221390|3.221390	0.58560|0.58560	.|.	.|.	ENSG00000179598|ENSG00000179598	ENST00000321560|ENST00000427497	T|.	0.34472|.	1.36|.	3.34|3.34	2.32|2.32	0.28847|0.28847	.|.	0.183386|.	0.45867|.	D|.	0.000339|.	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.32530|0.32530	0.975|0.975	0.52099|0.52099	D|D	0.999942|0.999942	P|.	0.45176|.	0.852|.	B|.	0.24541|.	0.054|.	T|T	0.57946|0.57946	-0.7723|-0.7723	10|6	0.51188|0.87932	T|D	0.08|0	-5.2404|-5.2404	11.4726|11.4726	0.50278|0.50278	0.0:0.815:0.185:0.0|0.0:0.815:0.185:0.0	.|.	40|.	Q8N2A8|.	PLD6_HUMAN|.	K|Q	40|13	ENSP00000317177:E40K|.	ENSP00000317177:E40K|ENSP00000394249:R13Q	E|R	-|-	1|2	0|0	PLD6|PLD6	17050208|17050208	0.857000|0.857000	0.29778|0.29778	0.883000|0.883000	0.34634|0.34634	0.527000|0.527000	0.34593|0.34593	1.414000|1.414000	0.34736|0.34736	0.699000|0.699000	0.31761|0.31761	0.455000|0.455000	0.32223|0.32223	GAG|CGA		0.771	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2		NM_178836		5	3	0	0	0	0.000602	0	5	3		
MLLT6	4302	broad.mit.edu	37	17	36863784	36863784	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:36863784G>A	ENST00000325718.7	+	3	326	c.235G>A	c.(235-237)Gat>Aat	p.D79N	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Missense_Mutation_p.D79N|MLLT6_ENST00000579179.1_3'UTR|CTB-58E17.1_ENST00000563897.1_lincRNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	79					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GAAGAGGACTGATAATGGAGG	0.612			T	MLL	AL																																	uc002hqi.3		NaN		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.(235-237)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia							84.0	87.0	86.0					17																	36863784		2203	4300	6503	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36863784G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.235G>A	17.37:g.36863784G>A	ENSP00000316426:p.Asp79Asn					MLLT6_uc010wdr.1_Missense_Mutation_p.D79N|MLLT6_uc010cvm.1_Missense_Mutation_p.D79N	p.D79N	NM_005937	NP_005928	P55198	AF17_HUMAN			3	248	+	Breast(7;4.43e-21)		79					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.235G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937657	0.92458	.	.	ENSG00000108292	ENST00000325718;ENST00000378137	T;T	0.13657	2.57;2.57	5.71	5.71	0.89125	.	0.061100	0.64402	D	0.000004	T	0.35740	0.0942	L	0.58302	1.8	0.80722	D	1	P;P;D	0.89917	0.91;0.91;1.0	P;P;D	0.91635	0.838;0.838;0.999	T	0.00634	-1.1634	10	0.42905	T	0.14	.	18.4098	0.90548	0.0:0.0:1.0:0.0	.	79;79;79	E9PEP1;Q6P2C6;P55198	.;.;AF17_HUMAN	N	79	ENSP00000316426:D79N;ENSP00000367377:D79N	ENSP00000316426:D79N	D	+	1	0	MLLT6	34117310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.406000	0.97321	2.700000	0.92200	0.561000	0.74099	GAT		0.612	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1		NM_005937		19	90	0	0	0	0.010504	0	19	90		
CACNB1	782	broad.mit.edu	37	17	37331640	37331640	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37331640G>A	ENST00000394303.3	-	14	1810	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	535					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCCTGCAGGGTCTCCAAGC	0.657											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	uc002hrm.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1603-1605)CCT>TCT		calcium channel, voltage-dependent, beta 1	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						104.0	117.0	113.0					17																	37331640		1884	4102	5986	SO:0001583	missense	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37331640G>A		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1603C>T	17.37:g.37331640G>A	ENSP00000377840:p.Pro535Ser		OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	CACNB1_uc002hrl.1_Missense_Mutation_p.P307S	p.P535S	NM_000723	NP_000714	Q02641	CACB1_HUMAN			14	1756	-			535					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	c.1603C>T	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908703	0.52439	.	.	ENSG00000067191	ENST00000539338;ENST00000394303	T	0.75477	-0.94	5.67	5.67	0.87782	.	0.199404	0.43747	D	0.000533	T	0.59959	0.2232	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.57447	-0.7810	10	0.02654	T	1	-9.9174	18.5321	0.90996	0.0:0.0:1.0:0.0	.	535	Q02641	CACB1_HUMAN	S	485;535	ENSP00000377840:P535S	ENSP00000377840:P535S	P	-	1	0	CACNB1	34585166	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.450000	0.52957	2.686000	0.91538	0.561000	0.74099	CCT		0.657	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3				66	357	0	0	0	0.01441	0	66	357		
MED1	5469	broad.mit.edu	37	17	37564338	37564338	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37564338G>A	ENST00000300651.6	-	17	4359	c.4136C>T	c.(4135-4137)tCa>tTa	p.S1379L	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	330					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTTGACTCTGAGGTCTTCTT	0.443										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(4135-4137)TCA>TTA		mediator complex subunit 1							72.0	80.0	78.0					17																	37564338		2202	4300	6502	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564338G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4136C>T	17.37:g.37564338G>A	ENSP00000300651:p.Ser1379Leu	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S1207L|MED1_uc002hru.2_Intron	p.S1379L	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4348	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1379			Ser-rich.|Interaction with TP53.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.4136C>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899010	0.52227	.	.	ENSG00000125686	ENST00000300651	T	0.32515	1.45	4.61	4.61	0.57282	.	.	.	.	.	T	0.18087	0.0434	N	0.08118	0	0.43292	D	0.995271	B	0.12013	0.005	B	0.06405	0.002	T	0.05517	-1.0880	9	0.59425	D	0.04	-6.8645	13.7221	0.62735	0.0:0.1542:0.8458:0.0	.	1379	Q15648	MED1_HUMAN	L	1379	ENSP00000300651:S1379L	ENSP00000300651:S1379L	S	-	2	0	MED1	34817864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.049000	0.71053	2.541000	0.85698	0.561000	0.74099	TCA		0.443	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3		NM_004774		52	76	0	0	0	0.01441	0	52	76		
MED1	5469	broad.mit.edu	37	17	37564821	37564821	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:37564821G>C	ENST00000300651.6	-	17	3876	c.3653C>G	c.(3652-3654)tCc>tGc	p.S1218C	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGCTTTAGAGGATGGAGGAGT	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3652-3654)TCC>TGC		mediator complex subunit 1							76.0	78.0	77.0					17																	37564821		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564821G>C	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3653C>G	17.37:g.37564821G>C	ENSP00000300651:p.Ser1218Cys	HNSCC(31;0.082)				MED1_uc010wee.1_Missense_Mutation_p.S1046C|MED1_uc002hru.2_Intron	p.S1218C	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3865	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1218			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.3653C>G	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326696	0.60743	.	.	ENSG00000125686	ENST00000300651	T	0.58358	0.34	4.93	4.93	0.64822	.	.	.	.	.	T	0.61924	0.2386	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.65911	-0.6053	9	0.72032	D	0.01	-3.9318	18.7105	0.91655	0.0:0.0:1.0:0.0	.	1218	Q15648	MED1_HUMAN	C	1218	ENSP00000300651:S1218C	ENSP00000300651:S1218C	S	-	2	0	MED1	34818347	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.573000	0.82421	2.727000	0.93392	0.655000	0.94253	TCC		0.478	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3		NM_004774		38	30	0	0	0	0.005524	0	38	30		
DCAKD	79877	broad.mit.edu	37	17	43112207	43112207	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:43112207G>A	ENST00000452796.2	-	1	302	c.47C>T	c.(46-48)tCa>tTa	p.S16L	DCAKD_ENST00000310604.4_Missense_Mutation_p.S16L|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.S16L|DCAKD_ENST00000342350.5_Missense_Mutation_p.S16L			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	16	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CTGGATCACTGAGCTCTTGCC	0.612																																						uc002ihx.2		NaN																	0					0						c.(46-48)TCA>TTA		dephospho-CoA kinase domain containing							84.0	67.0	73.0					17																	43112207		2203	4300	6503	SO:0001583	missense	79877				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity	g.chr17:43112207G>A	BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.47C>T	17.37:g.43112207G>A	ENSP00000413483:p.Ser16Leu					DCAKD_uc010daa.1_Missense_Mutation_p.S16L|DCAKD_uc010dab.1_Missense_Mutation_p.S16L|DCAKD_uc002ihy.2_Missense_Mutation_p.S16L	p.S16L	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN			1	303	-		Prostate(33;0.155)	16			DPCK.		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Missense_Mutation	SNP	ENST00000452796.2	37	c.47C>T	CCDS11493.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412846	0.96072	.	.	ENSG00000172992	ENST00000342350;ENST00000452796;ENST00000310604	T;T;T	0.44881	0.91;0.91;1.11	5.47	5.47	0.80525	.	0.203719	0.41938	D	0.000794	T	0.39253	0.1071	L	0.33710	1.025	0.58432	D	0.999998	B;B	0.31503	0.326;0.238	B;B	0.35073	0.195;0.159	T	0.35599	-0.9782	10	0.87932	D	0	0.4907	17.4992	0.87727	0.0:0.0:1.0:0.0	.	16;16	Q8WVC6-2;Q8WVC6	.;DCAKD_HUMAN	L	16	ENSP00000341504:S16L;ENSP00000413483:S16L;ENSP00000308515:S16L	ENSP00000308515:S16L	S	-	2	0	DCAKD	40467733	1.000000	0.71417	0.954000	0.39281	0.996000	0.88848	7.442000	0.80503	2.560000	0.86352	0.561000	0.74099	TCA		0.612	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449066.1		NM_024819		8	46	0	0	0	0.004482	0	8	46		
CDC27	996	broad.mit.edu	37	17	45199920	45199920	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:45199920G>A	ENST00000066544.3	-	18	2375	c.2282C>T	c.(2281-2283)tCt>tTt	p.S761F	CDC27_ENST00000531206.1_Missense_Mutation_p.S767F|CDC27_ENST00000446365.2_Missense_Mutation_p.S700F|CDC27_ENST00000527547.1_Missense_Mutation_p.S760F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	761					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CATAGCCCAAGAGAAATTCAT	0.383																																						uc002ild.3		NaN																	0				lung(2)|breast(2)|ovary(1)	5						c.(2281-2283)TCT>TTT		cell division cycle protein 27 isoform 2							106.0	99.0	101.0					17																	45199920		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45199920G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2282C>T	17.37:g.45199920G>A	ENSP00000066544:p.Ser761Phe					CDC27_uc002ile.3_Missense_Mutation_p.S767F|CDC27_uc002ilf.3_Missense_Mutation_p.S760F|CDC27_uc010wkp.1_Missense_Mutation_p.S700F|CDC27_uc010wkq.1_RNA	p.S761F	NM_001256	NP_001247	P30260	CDC27_HUMAN			18	2409	-			761			TPR 9.		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.2282C>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534403	0.85812	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.105818	0.64402	D	0.000004	T	0.79540	0.4463	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.82671	-0.0342	10	0.87932	D	0	-16.1788	16.5851	0.84725	0.0:0.0:1.0:0.0	.	700;760;767;761	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	F	761;767;700;760	ENSP00000066544:S761F;ENSP00000434614:S767F;ENSP00000392802:S700F;ENSP00000437339:S760F	ENSP00000066544:S761F	S	-	2	0	CDC27	42554919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.776000	0.95493	0.655000	0.94253	TCT		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2				34	38	0	0	0	0.012213	0	34	38		
DLX3	1747	broad.mit.edu	37	17	48068882	48068882	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:48068882C>T	ENST00000434704.2	-	3	1088	c.863G>A	c.(862-864)tGa>tAa	p.*288*	DLX3_ENST00000512495.2_Silent_p.*168*	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	0					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GATGGGTGCTCAGTACACAGC	0.642																																						uc002ipy.2		NaN																	0					0						c.(862-864)TGA>TAA		distal-less homeobox 3							13.0	14.0	14.0					17																	48068882		2193	4277	6470	SO:0001819	synonymous_variant	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48068882C>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.863G>A	17.37:g.48068882C>T							p.*288*	NM_005220	NP_005211	O60479	DLX3_HUMAN			3	1089	-			288					B3KQL6	Silent	SNP	ENST00000434704.2	37	c.863G>A	CCDS11556.1																																																																																				0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1				5	26	0	0	0	0.000602	0	5	26		
TOB1	10140	broad.mit.edu	37	17	48940478	48940478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:48940478G>A	ENST00000268957.3	-	3	1329	c.901C>T	c.(901-903)Ctc>Ttc	p.L301F	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_Missense_Mutation_p.L301F	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	301					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|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 signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGTACTGGAGAGGACTGAGG	0.413																																					NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NaN																	0				large_intestine(1)	1						c.(901-903)CTC>TTC		transducer of ERBB2, 1							82.0	81.0	81.0					17																	48940478		2203	4300	6503	SO:0001583	missense	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940478G>A	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.901C>T	17.37:g.48940478G>A	ENSP00000268957:p.Leu301Phe					TOB1_uc010wmy.1_Missense_Mutation_p.L301F|TOB1_uc010wmz.1_Missense_Mutation_p.L301F	p.L301F	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	936	-			301					B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	ENST00000268957.3	37	c.901C>T	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104753	0.56291	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.46063	0.88;0.88	6.06	6.06	0.98353	.	0.144193	0.47852	D	0.000211	T	0.44180	0.1281	L	0.48877	1.53	0.80722	D	1	P	0.48694	0.914	P	0.46144	0.505	T	0.13388	-1.0511	10	0.10111	T	0.7	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	301	P50616	TOB1_HUMAN	F	301	ENSP00000427695:L301F;ENSP00000268957:L301F	ENSP00000268957:L301F	L	-	1	0	TOB1	46295477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.273000	0.72581	2.880000	0.98712	0.650000	0.86243	CTC		0.413	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1				43	47	0	0	0	0.01441	0	43	47		
NME1	4830	broad.mit.edu	37	17	49231768	49231768	+	Intron	SNP	C	C	T	rs376345325		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:49231768C>T	ENST00000393196.3	+	1	127				NME1_ENST00000511355.1_Intron|NME1_ENST00000480143.1_Nonsense_Mutation_p.Q12*|NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000336097.3_Nonsense_Mutation_p.Q12*|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Nonsense_Mutation_p.Q12*|NME2_ENST00000376392.6_Intron|NME1_ENST00000013034.3_Nonsense_Mutation_p.Q12*|NME2_ENST00000555572.1_Nonsense_Mutation_p.Q12*	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1						cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GATCGTCTTTCAAGGCGAGGG	0.478																																					GBM(176;1298 2890 6639 30062)	uc002itk.2		NaN																	0					0						c.(34-36)CAA>TAA		nucleoside diphosphate kinase B		C	,,stop/GLN	1,4405	2.1+/-5.4	0,1,2202	236.0	196.0	209.0		,,34	1.2	0.0	17		209	0,8600		0,0,4300	no	intron,intron,stop-gained	NME1,NME1-NME2	NM_000269.2,NM_001018136.2,NM_198175.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,12/178	49231768	1,13005	2203	4300	6503	SO:0001627	intron_variant	654364				cell adhesion|CTP biosynthetic process|GTP biosynthetic process|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation|UTP biosynthetic process	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity	g.chr17:49231768C>T	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.-5+745C>T	17.37:g.49231768C>T						NME1_uc010dbx.1_Nonsense_Mutation_p.Q12*|NME1_uc002ith.1_Nonsense_Mutation_p.Q12*|NME1_uc002iti.1_Intron|NME1-NME2_uc002itj.2_Intron	p.Q12*	NM_002512	NP_002503	P22392	NDKB_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		2	287	+			Error:Variant_position_missing_in_P22392_after_alignment					Q6FGK3|Q86XQ2|Q9UDJ6	Nonsense_Mutation	SNP	ENST00000393196.3	37	c.34C>T	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003155	0.74932	2.27E-4	0.0	ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000011052;ENSG00000243678	ENST00000336097;ENST00000480143;ENST00000013034;ENST00000456492;ENST00000555572;ENST00000393198	.	.	.	3.29	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	4.5352	0.12024	0.0:0.6414:0.23:0.1286	.	.	.	.	X	12	.	ENSP00000013034:Q12X	Q	+	1	0	NME2;NME1-NME2;NME1	46586767	0.233000	0.23772	0.020000	0.16555	0.000000	0.00434	0.305000	0.19254	0.369000	0.24510	-0.251000	0.11542	CAA		0.478	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2		NM_000269		31	99	0	0	0	0.003755	0	31	99		
VEZF1	7716	broad.mit.edu	37	17	56060115	56060115	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:56060115C>T	ENST00000581208.1	-	2	713	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	VEZF1_ENST00000584396.1_Missense_Mutation_p.E216K	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	225					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ATGCCTCCTTCATGAGACCTC	0.448																																						uc002ivf.1		NaN																	0				ovary(1)|breast(1)	2						c.(673-675)GAA>AAA		zinc finger protein 161							137.0	116.0	123.0					17																	56060115		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060115C>T	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.673G>A	17.37:g.56060115C>T	ENSP00000462337:p.Glu225Lys					VEZF1_uc010dcn.1_Missense_Mutation_p.E69K	p.E225K	NM_007146	NP_009077	Q14119	VEZF1_HUMAN			2	816	-			225						Missense_Mutation	SNP	ENST00000581208.1	37	c.673G>A	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931130	0.73327	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.35	5.35	0.76521	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.044832	0.85682	D	0.000000	T	0.41073	0.1143	N	0.04043	-0.29	0.80722	D	1	P	0.42827	0.791	P	0.45276	0.475	T	0.54788	-0.8241	9	0.87932	D	0	-8.8221	19.0772	0.93168	0.0:1.0:0.0:0.0	.	225	Q14119	VEZF1_HUMAN	K	225	.	ENSP00000258963:E225K	E	-	1	0	VEZF1	53415114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.063000	0.71162	2.522000	0.85027	0.551000	0.68910	GAA		0.448	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1				16	100	0	0	0	0.004007	0	16	100		
TBX2	6909	broad.mit.edu	37	17	59482604	59482604	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:59482604G>C	ENST00000240328.3	+	6	1374	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	365					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CCCGGAGCCTGAGCGGTTGAG	0.741																																					GBM(3;187 253 11467 14965 23079)	uc010wox.1		NaN																	0					0						c.(1093-1095)GAG>CAG		T-box 2							4.0	5.0	4.0					17																	59482604		1717	3626	5343	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482604G>C	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1093G>C	17.37:g.59482604G>C	ENSP00000240328:p.Glu365Gln					TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.E211Q	p.E365Q	NM_005994	NP_005985	Q13207	TBX2_HUMAN			6	1374	+			365					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1093G>C	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237286	0.39498	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	5.06	5.06	0.68205	Transcription factor, T-box, region of unknown function (1);	0.347798	0.30151	N	0.010287	T	0.81484	0.4832	N	0.24115	0.695	0.52501	D	0.999951	P	0.42584	0.784	B	0.42522	0.39	T	0.80334	-0.1426	10	0.26408	T	0.33	.	17.0061	0.86393	0.0:0.0:1.0:0.0	.	365	Q13207	TBX2_HUMAN	Q	365	ENSP00000240328:E365Q	ENSP00000240328:E365Q	E	+	1	0	TBX2	56837386	1.000000	0.71417	0.215000	0.23724	0.042000	0.13812	8.976000	0.93442	2.348000	0.79779	0.561000	0.74099	GAG		0.741	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2		NM_005994		5	9	0	0	0	0.000602	0	5	9		
DDX42	11325	broad.mit.edu	37	17	61895626	61895626	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:61895626G>C	ENST00000578681.1	+	19	3286	c.2685G>C	c.(2683-2685)aaG>aaC	p.K895N	DDX42_ENST00000457800.2_Missense_Mutation_p.K895N|DDX42_ENST00000583590.1_Missense_Mutation_p.K895N|DDX42_ENST00000359353.5_Missense_Mutation_p.K776N|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000389924.2_Missense_Mutation_p.K895N	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	895					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GTGAGAGCAAGATGGAGCCCA	0.547																																						uc002jbu.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(2683-2685)AAG>AAC		DEAD box polypeptide 42 protein							107.0	93.0	98.0					17																	61895626		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61895626G>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2685G>C	17.37:g.61895626G>C	ENSP00000464050:p.Lys895Asn					DDX42_uc002jbv.2_Missense_Mutation_p.K895N|DDX42_uc002jbx.2_Missense_Mutation_p.K631N|DDX42_uc002jby.2_Missense_Mutation_p.K441N|DDX42_uc010wps.1_Missense_Mutation_p.K263N	p.K895N	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			19	2942	+			895					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2685G>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297614	0.23650	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.20463	2.07;2.07	5.06	3.08	0.35506	.	0.936769	0.09142	N	0.842863	T	0.21550	0.0519	L	0.44542	1.39	0.30984	N	0.722152	B;B	0.27559	0.181;0.079	B;B	0.29440	0.102;0.014	T	0.21075	-1.0256	10	0.59425	D	0.04	.	10.6652	0.45726	0.1547:0.0:0.8453:0.0	.	441;895	B3KV84;Q86XP3	.;DDX42_HUMAN	N	895;895;612	ENSP00000374574:K895N;ENSP00000390121:K895N	ENSP00000352308:K612N	K	+	3	2	DDX42	59249358	1.000000	0.71417	0.811000	0.32455	0.511000	0.34104	1.100000	0.31025	0.719000	0.32188	-0.444000	0.05651	AAG		0.547	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372		43	63	0	0	0	0.006999	0	43	63		
GPRC5C	55890	broad.mit.edu	37	17	72436224	72436224	+	Silent	SNP	C	C	T	rs148101331		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:72436224C>T	ENST00000392627.1	+	2	1570	c.444C>T	c.(442-444)ctC>ctT	p.L148L	GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Silent_p.L115L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	103					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCTTCTGCCTCGTGTTTGCCT	0.607																																						uc002jks.2		NaN																	0				ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5						c.(307-309)CTC>CTT		G protein-coupled receptor family C, group 5,		C	,	2,4404	4.2+/-10.8	0,2,2201	92.0	94.0	93.0		345,444	-7.8	0.9	17	dbSNP_134	93	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GPRC5C	NM_018653.3,NM_022036.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	115/454,148/487	72436224	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436224C>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.444C>T	17.37:g.72436224C>T						GPRC5C_uc002jkp.2_Silent_p.L148L|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Silent_p.L115L|GPRC5C_uc002jkt.2_Silent_p.L103L|GPRC5C_uc002jku.2_5'Flank	p.L103L	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN			1	348	+			103			Helical; Name=2; (Potential).		B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000392627.1	37	c.309C>T	CCDS11699.1																																																																																				0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2				38	69	0	0	0	0.00623	0	38	69		
CASKIN2	57513	broad.mit.edu	37	17	73503147	73503147	+	Missense_Mutation	SNP	C	C	T	rs372950574		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:73503147C>T	ENST00000321617.3	-	5	894	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R21H|CASKIN2_ENST00000581870.1_Missense_Mutation_p.R103H	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	103						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCAGAGGCGCGCAGCAGCAG	0.662																																						uc002joc.2		NaN																	0				pancreas(1)	1						c.(307-309)CGC>CAC		cask-interacting protein 2 isoform a			HIS/ARG,HIS/ARG	1,4383		0,1,2191	15.0	16.0	16.0		62,308	4.2	1.0	17		16	0,8568		0,0,4284	no	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	29,29	0,1,6475	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	21/1121,103/1203	73503147	1,12951	2192	4284	6476	SO:0001583	missense	57513					cytoplasm		g.chr17:73503147C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.308G>A	17.37:g.73503147C>T	ENSP00000325355:p.Arg103His					CASKIN2_uc010wsc.1_Missense_Mutation_p.R21H|CASKIN2_uc002jod.2_Missense_Mutation_p.R103H	p.R103H	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	858	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		103			ANK 2.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.308G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584298	0.65992	2.28E-4	0.0	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.64618	0.6;-0.11	5.19	4.22	0.49857	Ankyrin repeat-containing domain (4);	0.400398	0.17681	N	0.165638	T	0.71728	0.3374	L	0.48174	1.505	0.37227	D	0.905528	D;D	0.89917	0.994;1.0	P;D	0.83275	0.649;0.996	T	0.72600	-0.4244	10	0.38643	T	0.18	.	13.1343	0.59402	0.0:0.9228:0.0:0.0772	.	21;103	Q8WXE0-2;Q8WXE0	.;CSKI2_HUMAN	H	103;21	ENSP00000325355:R103H;ENSP00000406963:R21H	ENSP00000325355:R103H	R	-	2	0	CASKIN2	71014742	0.007000	0.16637	0.974000	0.42286	0.222000	0.24845	2.142000	0.42177	2.427000	0.82271	0.556000	0.70494	CGC		0.662	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		8	20	0	0	0	0.00308	0	8	20		
UBE2O	63893	broad.mit.edu	37	17	74388108	74388108	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:74388108G>A	ENST00000319380.7	-	16	3097	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1011					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CGGCTGGGTAGATGTTGGGGA	0.592																																						uc002jrm.3		NaN																	0				breast(2)|skin(2)|lung(1)	5						c.(3031-3033)ATC>ATT		ubiquitin-conjugating enzyme E2O							30.0	31.0	31.0					17																	74388108		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74388108G>A	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.3033C>T	17.37:g.74388108G>A						UBE2O_uc002jrl.3_Silent_p.I615I	p.I1011I	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			16	3098	-			1011					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.3033C>T	CCDS32742.1																																																																																				0.592	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1		NM_022066		21	25	0	0	0	0.00278	0	21	25		
CBX4	8535	broad.mit.edu	37	17	77808594	77808594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:77808594C>A	ENST00000269397.4	-	5	1024	c.847G>T	c.(847-849)Gag>Tag	p.E283*		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	283	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCTGCCACCTCGCCGGACTTG	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jxe.2		NaN																	0				skin(2)	2						c.(847-849)GAG>TAG		chromobox homolog 4							118.0	106.0	110.0					17																	77808594		2202	4295	6497	SO:0001587	stop_gained	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808594C>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.847G>T	17.37:g.77808594C>A	ENSP00000269397:p.Glu283*		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.E283*	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1010	-			283			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Nonsense_Mutation	SNP	ENST00000269397.4	37	c.847G>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	c	36	5.703405	0.96812	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.89	3.89	0.44902	.	1.263490	0.06304	U	0.701457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-37.4049	13.3602	0.60652	0.0:1.0:0.0:0.0	.	.	.	.	X	283	.	ENSP00000269397:E283X	E	-	1	0	CBX4	75423189	0.995000	0.38212	0.919000	0.36401	0.589000	0.36550	5.484000	0.66844	1.725000	0.51514	0.306000	0.20318	GAG		0.592	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1		NM_003655		75	103	1	0	3.25985e-27	0.01441	3.53978e-27	75	103		
LPIN2	9663	broad.mit.edu	37	18	2925292	2925292	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:2925292G>A	ENST00000261596.4	-	14	2106	c.1868C>T	c.(1867-1869)cCc>cTc	p.P623L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	623					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GGGCTCTGTGGGGATGGGGTC	0.547																																						uc002klo.2		NaN																	0				ovary(1)|skin(1)	2						c.(1867-1869)CCC>CTC		lipin 2							122.0	115.0	118.0					18																	2925292		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2925292G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1868C>T	18.37:g.2925292G>A	ENSP00000261596:p.Pro623Leu						p.P623L	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	14	2107	-			623					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1868C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151769	0.38021	.	.	ENSG00000101577	ENST00000261596	T	0.80824	-1.42	4.75	2.86	0.33363	.	0.476872	0.25112	N	0.033041	T	0.75354	0.3838	L	0.56769	1.78	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.64076	-0.6492	10	0.39692	T	0.17	-0.6879	11.6557	0.51318	0.0:0.1351:0.7244:0.1405	.	623	Q92539	LPIN2_HUMAN	L	623	ENSP00000261596:P623L	ENSP00000261596:P623L	P	-	2	0	LPIN2	2915292	0.875000	0.30112	0.000000	0.03702	0.003000	0.03518	1.639000	0.37176	0.602000	0.29896	0.655000	0.94253	CCC		0.547	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2		NM_014646		35	111	0	0	0	0.003755	0	35	111		
MYO5B	4645	broad.mit.edu	37	18	47500848	47500848	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:47500848G>C	ENST00000285039.7	-	10	1493	c.1194C>G	c.(1192-1194)atC>atG	p.I398M		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	398	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGCGCGCATTGATCACCTGCT	0.582																																						uc002leb.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1192-1194)ATC>ATG		myosin VB							167.0	174.0	171.0					18																	47500848		2184	4282	6466	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500848G>C	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1194C>G	18.37:g.47500848G>C	ENSP00000285039:p.Ile398Met					MYO5B_uc002lec.1_Missense_Mutation_p.I397M	p.I398M	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1482	-			398			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1194C>G	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804042	0.31869	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87179	-2.22	5.37	2.49	0.30216	Myosin head, motor domain (2);	0.647120	0.15355	N	0.266746	T	0.81978	0.4937	L	0.49640	1.575	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.26614	0.071;0.004	T	0.71467	-0.4584	10	0.33940	T	0.23	.	6.3654	0.21451	0.0764:0.4699:0.336:0.1177	.	397;398	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	M	398;397	ENSP00000285039:I398M	ENSP00000285039:I398M	I	-	3	3	MYO5B	45754846	0.467000	0.25831	0.983000	0.44433	0.798000	0.45092	0.404000	0.20999	0.288000	0.22398	0.561000	0.74099	ATC		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				27	29	0	0	0	0.004656	0	27	29		
ZNF407	55628	broad.mit.edu	37	18	72347227	72347227	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr18:72347227G>C	ENST00000299687.5	+	1	4252	c.4252G>C	c.(4252-4254)Gat>Cat	p.D1418H	ZNF407_ENST00000309902.6_Missense_Mutation_p.D1418H|ZNF407_ENST00000582337.1_Missense_Mutation_p.D1418H|ZNF407_ENST00000577538.1_Missense_Mutation_p.D1418H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TCGCTGTGATGATTGTGGCTT	0.438																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(4252-4254)GAT>CAT		zinc finger protein 407 isoform 1							84.0	88.0	87.0					18																	72347227		2007	4191	6198	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72347227G>C	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4252G>C	18.37:g.72347227G>C	ENSP00000299687:p.Asp1418His					ZNF407_uc010xfc.1_Missense_Mutation_p.D1418H|ZNF407_uc010dqu.1_Missense_Mutation_p.D1418H|ZNF407_uc002llu.2_Missense_Mutation_p.D1417H	p.D1418H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	4309	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1418					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4252G>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199966	0.79015	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.01560	4.77;4.77	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);	0.060364	0.64402	N	0.000007	T	0.07503	0.0189	L	0.36672	1.1	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.32052	-0.9921	10	0.62326	D	0.03	.	19.7998	0.96502	0.0:0.0:1.0:0.0	.	1418;1418;1418	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	H	1418	ENSP00000299687:D1418H;ENSP00000310359:D1418H	ENSP00000299687:D1418H	D	+	1	0	ZNF407	70476215	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.471000	0.97696	2.156000	0.67533	0.528000	0.53228	GAT		0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		9	31	0	0	0	0.004482	0	9	31		
SH3GL1	6455	broad.mit.edu	37	19	4363857	4363857	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:4363857C>T	ENST00000269886.3	-	6	662	c.484G>A	c.(484-486)Gag>Aag	p.E162K	SH3GL1_ENST00000417295.2_Missense_Mutation_p.E114K|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.E98K	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	162	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGGCGGCCCTCCAGTTTCTTC	0.627			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2		NaN		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				ovary(2)	2						c.(484-486)GAG>AAG		SH3-domain GRB2-like 1							32.0	37.0	36.0					19																	4363857		2203	4298	6501	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4363857C>T		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.484G>A	19.37:g.4363857C>T	ENSP00000269886:p.Glu162Lys					SH3GL1_uc002mak.2_Missense_Mutation_p.E98K|SH3GL1_uc010xig.1_Missense_Mutation_p.E114K	p.E162K	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	6	590	-			162			Potential.|BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.484G>A	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	34	5.309469	0.95629	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.35789	1.29;1.29	4.59	4.59	0.56863	BAR (3);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.73708	0.981;0.966;0.966	T	0.65537	-0.6144	10	0.39692	T	0.17	-17.8093	16.7043	0.85367	0.0:1.0:0.0:0.0	.	114;162;162	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	K	162;114	ENSP00000269886:E162K;ENSP00000404568:E114K	ENSP00000269886:E162K	E	-	1	0	SH3GL1	4314857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.257000	0.74773	0.561000	0.74099	GAG		0.627	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1		NM_003025		32	26	0	0	0	0.003271	0	32	26		
SH3GL1	6455	broad.mit.edu	37	19	4364106	4364106	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:4364106C>T	ENST00000269886.3	-	5	622	c.444G>A	c.(442-444)gaG>gaA	p.E148E	SH3GL1_ENST00000417295.2_Silent_p.E100E|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.E84E	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	148	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCAGGTCTTTCTCGCACAGGT	0.632			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2		NaN		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				ovary(2)	2						c.(442-444)GAG>GAA		SH3-domain GRB2-like 1							41.0	35.0	37.0					19																	4364106		2203	4300	6503	SO:0001819	synonymous_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4364106C>T		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.444G>A	19.37:g.4364106C>T						SH3GL1_uc002mak.2_Silent_p.E84E|SH3GL1_uc010xig.1_Silent_p.E100E	p.E148E	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	5	550	-			148			Potential.|BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	c.444G>A	CCDS32874.1																																																																																				0.632	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1		NM_003025		23	15	0	0	0	0.00333	0	23	15		
C19orf45	374877	broad.mit.edu	37	19	7565879	7565879	+	Silent	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7565879G>T	ENST00000361664.2	+	2	312	c.171G>T	c.(169-171)ccG>ccT	p.P57P		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	57										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GGGAGCCGCCGAGCCTGCAGC	0.736																																						uc002mgm.2		NaN																	0					0						c.(169-171)CCG>CCT		hypothetical protein LOC374877							3.0	4.0	4.0					19																	7565879		1460	3162	4622	SO:0001819	synonymous_variant	374877							g.chr19:7565879G>T	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.171G>T	19.37:g.7565879G>T							p.P57P	NM_198534	NP_940936	Q8NA69	CS045_HUMAN			2	312	+			57					Q8N115	Silent	SNP	ENST00000361664.2	37	c.171G>T	CCDS12179.2																																																																																				0.736	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1		NM_198534		7	7	1	0	0.00198382	0.001984	0.00206275	7	7		
EVI5L	115704	broad.mit.edu	37	19	7928478	7928478	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:7928478G>A	ENST00000270530.4	+	19	2471	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N	EVI5L_ENST00000538904.2_Missense_Mutation_p.D770N	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	759					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GTCCCCGCGCGATGCGCGCTT	0.687																																						uc002min.2		NaN																	0				ovary(1)	1						c.(2275-2277)GAT>AAT		ecotropic viral integration site 5-like isoform							18.0	14.0	16.0					19																	7928478		2183	4276	6459	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7928478G>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2275G>A	19.37:g.7928478G>A	ENSP00000270530:p.Asp759Asn					EVI5L_uc010xjz.1_Missense_Mutation_p.D770N	p.D759N	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			19	2429	+			759					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.2275G>A	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036547	0.19669	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05319	3.46;3.46	4.37	3.28	0.37604	.	0.256136	0.31461	N	0.007612	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B;B	0.31040	0.071;0.305	B;B	0.15052	0.006;0.012	T	0.43540	-0.9385	10	0.35671	T	0.21	-39.4426	5.6275	0.17490	0.1071:0.2043:0.6886:0.0	.	770;759	B9A6I9;Q96CN4	.;EVI5L_HUMAN	N	759;770	ENSP00000270530:D759N;ENSP00000445905:D770N	ENSP00000270530:D759N	D	+	1	0	EVI5L	7834478	0.899000	0.30636	0.819000	0.32651	0.021000	0.10359	3.220000	0.51207	0.993000	0.38866	0.491000	0.48974	GAT		0.687	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1		NM_145245		9	16	0	0	0	0.010729	0	9	16		
ADAMTS10	81794	broad.mit.edu	37	19	8654126	8654126	+	Splice_Site	SNP	C	C	T	rs368873893		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:8654126C>T	ENST00000597188.1	-	18	2428	c.2158G>A	c.(2158-2160)Ggg>Agg	p.G720R	ADAMTS10_ENST00000595838.1_Splice_Site_p.G207R|ADAMTS10_ENST00000270328.4_Splice_Site_p.G720R	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	720	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGACTCTCACCGGCCCCAGGT	0.637																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(2158-2160)GGG>AGG		ADAM metallopeptidase with thrombospondin type 1							50.0	43.0	45.0					19																	8654126		2203	4299	6502	SO:0001630	splice_region_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654126C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2158+1G>A	19.37:g.8654126C>T						ADAMTS10_uc002mki.1_Missense_Mutation_p.G207R|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G352R	p.G720R	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			18	2432	-			720			Spacer.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2158G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577745	0.65878	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.61274	0.12	4.93	4.93	0.64822	ADAM-TS Spacer 1 (1);	0.132801	0.49916	D	0.000134	T	0.73410	0.3583	M	0.84683	2.71	0.80722	D	1	P;P;D	0.60575	0.588;0.896;0.988	B;P;P	0.54238	0.104;0.532;0.746	T	0.78365	-0.2232	9	.	.	.	.	17.1648	0.86812	0.0:1.0:0.0:0.0	.	474;720;207	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	R	720;474	ENSP00000270328:G720R	.	G	-	1	0	ADAMTS10	8560126	1.000000	0.71417	0.917000	0.36280	0.105000	0.19272	5.026000	0.64103	2.273000	0.75805	0.655000	0.94253	GGG		0.637	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957	Missense_Mutation	40	38	0	0	0	0.011902	0	40	38		
ADAMTS10	81794	broad.mit.edu	37	19	8654344	8654344	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:8654344C>T	ENST00000597188.1	-	17	2296	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E163K|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E676K	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	676	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACCTTGCATTCGCCACTGACG	0.657																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(2026-2028)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							72.0	75.0	74.0					19																	8654344		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654344C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2026G>A	19.37:g.8654344C>T	ENSP00000471851:p.Glu676Lys					ADAMTS10_uc002mki.1_Missense_Mutation_p.E163K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E308K	p.E676K	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			17	2300	-			676			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2026G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037553	0.93630	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.57907	0.37	5.03	5.03	0.67393	.	0.000000	0.85682	U	0.000000	T	0.39809	0.1092	N	0.12471	0.22	0.80722	D	1	B;D;D	0.62365	0.358;0.991;0.971	B;P;P	0.48795	0.036;0.545;0.59	T	0.24693	-1.0153	10	0.06625	T	0.88	.	17.3415	0.87297	0.0:1.0:0.0:0.0	.	430;676;163	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	K	676;430	ENSP00000270328:E676K	ENSP00000270328:E676K	E	-	1	0	ADAMTS10	8560344	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.390000	0.79816	2.314000	0.78098	0.655000	0.94253	GAA		0.657	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		95	84	0	0	0	0.01441	0	95	84		
MUC16	94025	broad.mit.edu	37	19	9060229	9060229	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:9060229C>T	ENST00000397910.4	-	3	27420	c.27217G>A	c.(27217-27219)Gaa>Aaa	p.E9073K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9075	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGTAGATTCTGTCTTGATG	0.488																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(27217-27219)GAA>AAA		mucin 16							184.0	172.0	176.0					19																	9060229		1957	4160	6117	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060229C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27217G>A	19.37:g.9060229C>T	ENSP00000381008:p.Glu9073Lys						p.E9073K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27421	-			9075			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27217G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.831	0.719840	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.4	1.32	0.21799	.	.	.	.	.	T	0.03053	0.0090	L	0.43923	1.385	.	.	.	P	0.42518	0.782	B	0.37989	0.262	T	0.31503	-0.9941	8	0.87932	D	0	.	7.0034	0.24823	0.0:0.7141:0.2859:0.0	.	9073	B5ME49	.	K	9073	ENSP00000381008:E9073K	ENSP00000381008:E9073K	E	-	1	0	MUC16	8921229	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.462000	0.06704	0.550000	0.28991	0.461000	0.40582	GAA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		98	74	0	0	0	0.01441	0	98	74		
ZNF846	162993	broad.mit.edu	37	19	9868197	9868197	+	Nonsense_Mutation	SNP	G	G	C	rs530751586	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:9868197G>C	ENST00000397902.2	-	6	1969	c.1556C>G	c.(1555-1557)tCa>tGa	p.S519*	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S519L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AGCAAGTGCTGAAGATTGAGT	0.368																																						uc002mmb.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1555-1557)TCA>TGA		zinc finger protein 846							148.0	156.0	153.0					19																	9868197		2058	4238	6296	SO:0001587	stop_gained	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868197G>C	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1556C>G	19.37:g.9868197G>C	ENSP00000380999:p.Ser519*					ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.S390*	p.S519*	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	2087	-			519			C2H2-type 14; degenerate.		A8K0H1|B3KUP1	Nonsense_Mutation	SNP	ENST00000397902.2	37	c.1556C>G	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	39	7.856120	0.98528	.	.	ENSG00000196605	ENST00000397902	.	.	.	1.74	0.592	0.17471	.	.	.	.	.	.	.	.	.	.	.	0.24000	N	0.996217	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	2.2248	0.03981	0.1875:0.0:0.5014:0.3111	.	.	.	.	X	519	.	ENSP00000380999:S519X	S	-	2	0	ZNF846	9729197	0.000000	0.05858	0.001000	0.08648	0.917000	0.54804	0.184000	0.16939	0.262000	0.21774	0.456000	0.33151	TCA		0.368	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		43	122	0	0	0	0.010771	0	43	122		
PDE4A	5141	broad.mit.edu	37	19	10561309	10561309	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:10561309C>T	ENST00000352831.6	+	5	761	c.651C>T	c.(649-651)gtC>gtT	p.V217V	PDE4A_ENST00000440014.2_Silent_p.V156V|PDE4A_ENST00000293683.5_Silent_p.V191V|PDE4A_ENST00000592685.1_Silent_p.V195V|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000380702.2_Silent_p.V195V	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	217					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CCACCCCTGTCTGCAAGGCCA	0.672																																						uc002moj.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(649-651)GTC>GTT		phosphodiesterase 4A isoform 1	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						11.0	14.0	13.0					19																	10561309		1565	3575	5140	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561309C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.651C>T	19.37:g.10561309C>T						PDE4A_uc002mok.2_Silent_p.V191V|PDE4A_uc002mol.2_Silent_p.V156V|PDE4A_uc002mom.2_5'Flank|PDE4A_uc002mon.2_5'Flank	p.V217V	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		5	759	+			217					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.651C>T	CCDS45961.1																																																																																				0.672	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1				10	18	0	0	0	0.013537	0	10	18		
SMARCA4	6597	broad.mit.edu	37	19	11151989	11151989	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:11151989G>A	ENST00000429416.3	+	31	4458	c.4177G>A	c.(4177-4179)Gag>Aag	p.E1393K	SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1360K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1393K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1363K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1363K|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1360K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1363K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1363K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1425K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1393					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGCCATCGAGGAGGGCAC	0.627			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(4177-4179)GAG>AAG		SWI/SNF-related matrix-associated							56.0	65.0	62.0					19																	11151989		2203	4299	6502	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11151989G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4177G>A	19.37:g.11151989G>A	ENSP00000395654:p.Glu1393Lys					SMARCA4_uc010dxp.2_Missense_Mutation_p.E1393K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1425K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1360K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1360K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1363K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1363K|SMARCA4_uc002mqh.3_Missense_Mutation_p.E483K	p.E1393K	NM_003072	NP_003063	P51532	SMCA4_HUMAN			30	4461	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1393					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4177G>A	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.290157|5.290157	0.95546|0.95546	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806|ENST00000538456	D;D;D;D;D;D|.	0.89681|.	-2.55;-2.24;-2.55;-2.32;-2.28;-2.28|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78541|0.78541	0.4299|0.4299	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D;D|.	0.71674|.	0.997;0.995;0.995;0.998;0.997;0.995|.	P;P;P;P;P;P|.	0.61533|.	0.781;0.705;0.705;0.89;0.701;0.705|.	T|T	0.81777|0.81777	-0.0777|-0.0777	10|5	0.87932|.	D|.	0|.	-38.0589|-38.0589	15.8513|15.8513	0.78934|0.78934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1363;1360;1360;1425;1363;1393|.	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532|.	.;.;.;.;.;SMCA4_HUMAN|.	K|Q	1393;1425;1427;1393;1360;1360;1363;1363|164	ENSP00000395654:E1393K;ENSP00000350720:E1425K;ENSP00000343896:E1393K;ENSP00000392837:E1360K;ENSP00000397783:E1363K;ENSP00000414727:E1363K|.	ENSP00000343896:E1393K|.	E|R	+|+	1|2	0|0	SMARCA4|SMARCA4	11012989|11012989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.491000|9.491000	0.97954|0.97954	2.272000|2.272000	0.75746|0.75746	0.467000|0.467000	0.42956|0.42956	GAG|CGA		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		48	48	0	0	0	0.01441	0	48	48		
ZNF799	90576	broad.mit.edu	37	19	12501795	12501795	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:12501795C>G	ENST00000430385.3	-	4	1617	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E441Q	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TATGGCTTCTCTCCAGCATGA	0.383																																						uc010dyt.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(1417-1419)GAG>CAG		zinc finger protein 799							75.0	80.0	78.0					19																	12501795		2202	4298	6500	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501795C>G	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1417G>C	19.37:g.12501795C>G	ENSP00000411084:p.Glu473Gln					ZNF799_uc002mts.3_Intron	p.E473Q	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN			4	1567	-			473						Missense_Mutation	SNP	ENST00000430385.3	37	c.1417G>C	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175861	0.57692	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.25912	1.77;1.77	1.31	1.31	0.21738	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28599	0.0708	L	0.58810	1.83	0.35007	D	0.756543	P	0.38110	0.618	B	0.42030	0.373	T	0.49899	-0.8890	9	0.87932	D	0	.	10.17	0.42904	0.0:1.0:0.0:0.0	.	473	Q96GE5	ZN799_HUMAN	Q	441;473	ENSP00000415278:E441Q;ENSP00000411084:E473Q	ENSP00000415278:E441Q	E	-	1	0	ZNF799	12362795	0.520000	0.26250	0.022000	0.16811	0.124000	0.20399	1.754000	0.38369	1.021000	0.39600	0.430000	0.28490	GAG		0.383	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2		NM_001080821		49	95	0	0	0	0.01441	0	49	95		
AP1M1	8907	broad.mit.edu	37	19	16337279	16337279	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:16337279C>T	ENST00000291439.3	+	6	1043	c.594C>T	c.(592-594)atC>atT	p.I198I	AP1M1_ENST00000590756.1_Silent_p.I126I|AP1M1_ENST00000541844.1_Silent_p.I126I|AP1M1_ENST00000444449.2_Silent_p.I210I|AP1M1_ENST00000429941.2_Silent_p.I198I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	198	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGGGCTCCATCAAGATGCGAG	0.652																																						uc002ndu.2		NaN																	0				ovary(3)|breast(1)	4						c.(592-594)ATC>ATT		adaptor-related protein complex 1, mu 1 subunit							58.0	38.0	45.0					19																	16337279		2198	4297	6495	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16337279C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.594C>T	19.37:g.16337279C>T						AP1M1_uc002ndv.2_Silent_p.I210I|AP1M1_uc010xpd.1_Silent_p.I198I	p.I198I	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			6	767	+			198			MHD.		Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.594C>T	CCDS12342.1																																																																																				0.652	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1		NM_032493		9	4	0	0	0	0.004482	0	9	4		
ZNF254	9534	broad.mit.edu	37	19	24309978	24309978	+	Silent	SNP	T	T	C	rs374038713		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:24309978T>C	ENST00000357002.4	+	4	1291	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	ZNF254_ENST00000342944.6_Silent_p.T307T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	392					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AACTCTCAACTCTTACTACAC	0.353																																						uc002nru.2		NaN																	0					0						c.(1174-1176)ACT>ACC		zinc finger protein 254							38.0	40.0	39.0					19																	24309978		2202	4300	6502	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309978T>C	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1176T>C	19.37:g.24309978T>C						ZNF254_uc010xrk.1_Silent_p.T307T	p.T392T	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1310	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	392			C2H2-type 7.		A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1176T>C	CCDS32983.1																																																																																				0.353	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1		NM_004876		5	49	0	0	0	0.001855	0	5	49		
ZNF536	9745	broad.mit.edu	37	19	31039401	31039401	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:31039401C>G	ENST00000355537.3	+	4	3022	c.2875C>G	c.(2875-2877)Ccc>Gcc	p.P959A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	959					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGGAGAAACCCAGTGGCAA	0.577																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2875-2877)CCC>GCC		zinc finger protein 536							104.0	112.0	109.0					19																	31039401		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039401C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2875C>G	19.37:g.31039401C>G	ENSP00000347730:p.Pro959Ala					ZNF536_uc010edd.1_Missense_Mutation_p.P959A	p.P959A	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3013	+	Esophageal squamous(110;0.0834)		959					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2875C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.577576	0.00008	.	.	ENSG00000198597	ENST00000355537	T	0.08370	3.1	5.55	-5.35	0.02697	.	1.321480	0.04661	N	0.408882	T	0.03871	0.0109	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45116	-0.9283	10	0.24483	T	0.36	-0.7456	10.5195	0.44910	0.2091:0.3276:0.4633:0.0	.	959;959	A7E228;O15090	.;ZN536_HUMAN	A	959	ENSP00000347730:P959A	ENSP00000347730:P959A	P	+	1	0	ZNF536	35731241	0.000000	0.05858	0.000000	0.03702	0.568000	0.35870	-0.140000	0.10342	-0.352000	0.08237	0.491000	0.48974	CCC		0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		9	185	0	0	0	0.004482	0	9	185		
ARHGAP33	115703	broad.mit.edu	37	19	36279303	36279303	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:36279303C>T	ENST00000007510.4	+	21	3980	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1118F|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1115F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1279					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCTCCACTCTGAGGGCCAG	0.632																																						uc002obs.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(3352-3354)TCT>TTT		sorting nexin 26							4.0	5.0	5.0					19																	36279303		1891	3839	5730	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36279303C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3836C>T	19.37:g.36279303C>T	ENSP00000007510:p.Ser1279Phe					ARHGAP33_uc002obt.1_Missense_Mutation_p.S1115F|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.S867F	p.S1118F	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	3438	+			1279					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3353C>T		.	.	.	.	.	.	.	.	.	.	c	10.98	1.503563	0.26949	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.14893	2.93;2.47;2.88	4.64	2.39	0.29439	.	0.617667	0.13474	N	0.385216	T	0.11836	0.0288	N	0.14661	0.345	0.24798	N	0.992717	B;B	0.31351	0.32;0.32	B;B	0.31101	0.124;0.086	T	0.21075	-1.0256	10	0.87932	D	0	.	13.6899	0.62539	0.0:0.7038:0.2962:0.0	.	1115;1118	O14559-10;O14559-11	.;.	F	1279;1118;1115	ENSP00000007510:S1279F;ENSP00000320038:S1118F;ENSP00000368227:S1115F	ENSP00000007510:S1279F	S	+	2	0	ARHGAP33	40971143	0.975000	0.34042	0.398000	0.26321	0.977000	0.68977	2.489000	0.45285	0.451000	0.26802	0.457000	0.33378	TCT		0.632	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding			NM_052948		6	7	0	0	0	0.001168	0	6	7		
RYR1	6261	broad.mit.edu	37	19	38973699	38973699	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:38973699C>T	ENST00000359596.3	+	32	4653	c.4653C>T	c.(4651-4653)gtC>gtT	p.V1551V	RYR1_ENST00000360985.3_Silent_p.V1551V|RYR1_ENST00000355481.4_Silent_p.V1551V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1551	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTCCTGCCGTCTTCGTCCTGC	0.587																																						uc002oit.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(4651-4653)GTC>GTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						200.0	147.0	165.0					19																	38973699		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38973699C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4653C>T	19.37:g.38973699C>T						RYR1_uc002oiu.2_Silent_p.V1551V	p.V1551V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		32	4783	+	all_cancers(60;7.91e-06)		1551			Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.4653C>T	CCDS33011.1																																																																																				0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				81	76	0	0	0	0.01441	0	81	76		
SAMD4B	55095	broad.mit.edu	37	19	39866385	39866385	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:39866385G>C	ENST00000314471.6	+	7	1798	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	SAMD4B_ENST00000596368.1_Missense_Mutation_p.E255Q|SAMD4B_ENST00000598913.1_Missense_Mutation_p.E255Q	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAGTCCAGAGGAGCTTGGGGC	0.652																																						uc002olb.2		NaN																	0					0						c.(763-765)GAG>CAG		sterile alpha motif domain containing 4B							86.0	93.0	91.0					19																	39866385		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39866385G>C		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.763G>C	19.37:g.39866385G>C	ENSP00000317224:p.Glu255Gln					SAMD4B_uc002ola.2_Missense_Mutation_p.E255Q	p.E255Q	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	1798	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		255					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.763G>C	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239214	0.79800	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.55	5.55	0.83447	.	0.054753	0.64402	D	0.000001	T	0.38427	0.1040	N	0.19112	0.55	0.51233	D	0.999917	P;P	0.41673	0.759;0.759	B;B	0.34722	0.188;0.188	T	0.43442	-0.9391	9	0.62326	D	0.03	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	255;255	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	Q	255	.	ENSP00000317224:E255Q	E	+	1	0	SAMD4B	44558225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.608000	0.88229	0.462000	0.41574	GAG		0.652	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		166	173	0	0	0	0.01441	0	166	173		
SAMD4B	55095	broad.mit.edu	37	19	39868175	39868175	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:39868175G>C	ENST00000314471.6	+	10	2190	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q385H	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCTGCAGCAGATCATCATCA	0.627																																						uc002olb.2		NaN																	0					0						c.(1153-1155)CAG>CAC		sterile alpha motif domain containing 4B							93.0	79.0	84.0					19																	39868175		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39868175G>C		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1155G>C	19.37:g.39868175G>C	ENSP00000317224:p.Gln385His					SAMD4B_uc002ola.2_Missense_Mutation_p.Q385H	p.Q385H	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2190	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		385					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1155G>C	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202264	0.79127	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	3.69	0.42338	Smaug, pseudo-HEAT analogous topology (1);	0.146212	0.47455	D	0.000227	T	0.65471	0.2694	L	0.52126	1.63	0.58432	D	0.999994	D;D	0.61080	0.989;0.989	P;P	0.62382	0.901;0.901	T	0.67389	-0.5683	9	0.72032	D	0.01	.	10.3347	0.43844	0.0956:0.0:0.9044:0.0	.	385;385	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	H	385	.	ENSP00000317224:Q385H	Q	+	3	2	SAMD4B	44560015	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.586000	0.53950	1.211000	0.43351	0.467000	0.42956	CAG		0.627	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		49	72	0	0	0	0.01441	0	49	72		
TMEM145	284339	broad.mit.edu	37	19	42827851	42827851	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:42827851C>T	ENST00000301204.3	+	14	1352	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	MEGF8_ENST00000334370.4_5'Flank|MEGF8_ENST00000251268.6_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	437					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACAAGGCCTTCCCGCAGCACG	0.642																																						uc002otk.1		NaN																	0					0						c.(1309-1311)TTC>TTT		transmembrane protein 145							99.0	81.0	87.0					19																	42827851		2203	4300	6503	SO:0001819	synonymous_variant	284339					integral to membrane		g.chr19:42827851C>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1311C>T	19.37:g.42827851C>T						MEGF8_uc002otl.3_5'Flank	p.F437F	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			14	1363	+		Prostate(69;0.00682)	437						Silent	SNP	ENST00000301204.3	37	c.1311C>T	CCDS12603.1																																																																																				0.642	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1		NM_173633		56	75	0	0	0	0.01441	0	56	75		
CEACAM8	1088	broad.mit.edu	37	19	43097978	43097978	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:43097978C>T	ENST00000244336.5	-	2	240	c.139G>A	c.(139-141)Gag>Aag	p.E47K	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	47	Ig-like V-type.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TCCTTCCCCTCTGCAGCATTG	0.537																																						uc002oud.2		NaN																	0				ovary(1)	1						c.(139-141)GAG>AAG		carcinoembryonic antigen-related cell adhesion							163.0	144.0	151.0					19																	43097978		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43097978C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.139G>A	19.37:g.43097978C>T	ENSP00000244336:p.Glu47Lys					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.E47K	NM_001816	NP_001807	P31997	CEAM8_HUMAN			2	241	-		Prostate(69;0.00899)	47			Ig-like V-type.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.139G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.209842	0.39003	.	.	ENSG00000124469	ENST00000244336	T	0.69306	-0.39	1.87	0.738	0.18319	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68961	0.3058	M	0.80847	2.515	0.09310	N	1	B	0.30686	0.29	B	0.39904	0.313	T	0.64067	-0.6494	9	0.59425	D	0.04	.	6.0024	0.19527	0.0:0.6702:0.3298:0.0	.	47	P31997	CEAM8_HUMAN	K	47	ENSP00000244336:E47K	ENSP00000244336:E47K	E	-	1	0	CEACAM8	47789818	0.001000	0.12720	0.006000	0.13384	0.445000	0.32107	0.298000	0.19120	0.295000	0.22570	0.313000	0.20887	GAG		0.537	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1				115	126	0	0	0	0.01441	0	115	126		
PRKD2	25865	broad.mit.edu	37	19	47219391	47219391	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:47219391C>T	ENST00000291281.4	-	1	462	c.237G>A	c.(235-237)caG>caA	p.Q79Q	PRKD2_ENST00000595515.1_Silent_p.Q79Q|PRKD2_ENST00000600194.1_5'Flank|PRKD2_ENST00000433867.1_Silent_p.Q79Q|PRKD2_ENST00000601806.1_5'UTR			Q9BZL6	KPCD2_HUMAN	protein kinase D2	79					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCCTCACCTTCTGGTCCACGA	0.657																																						uc002pfh.2		NaN																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(235-237)CAG>CAA		protein kinase D2 isoform A							24.0	27.0	26.0					19																	47219391		2192	4273	6465	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47219391C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.237G>A	19.37:g.47219391C>T						PRKD2_uc002pfg.2_5'Flank|PRKD2_uc002pfi.2_Silent_p.Q79Q|PRKD2_uc002pfj.2_Silent_p.Q79Q|PRKD2_uc010xye.1_Silent_p.Q79Q|PRKD2_uc002pfk.2_5'UTR	p.Q79Q	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	2	579	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	79					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.237G>A	CCDS12689.1																																																																																				0.657	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		50	43	0	0	0	0.01441	0	50	43		
SCAF1	58506	broad.mit.edu	37	19	50155955	50155955	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:50155955G>A	ENST00000360565.3	+	7	2433	c.2309G>A	c.(2308-2310)cGg>cAg	p.R770Q		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	770	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGTCTCGTCGGAAGGCGCTG	0.706																																						uc002poq.2		NaN																	0					0						c.(2308-2310)CGG>CAG		SR-related CTD-associated factor 1							9.0	11.0	10.0					19																	50155955		2128	4219	6347	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155955G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2309G>A	19.37:g.50155955G>A	ENSP00000353769:p.Arg770Gln						p.R770Q	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2433	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	770			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.2309G>A	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752462	0.31046	.	.	ENSG00000126461	ENST00000360565	T	0.34667	1.35	3.73	2.64	0.31445	.	0.321128	0.17329	N	0.178186	T	0.19087	0.0458	N	0.19112	0.55	0.09310	N	1	B	0.24675	0.109	B	0.14023	0.01	T	0.09729	-1.0661	9	.	.	.	-15.1599	7.2591	0.26193	0.1035:0.1732:0.7233:0.0	.	770	Q9H7N4	SFR19_HUMAN	Q	770	ENSP00000353769:R770Q	.	R	+	2	0	SCAF1	54847767	0.654000	0.27367	0.927000	0.36925	0.936000	0.57629	1.361000	0.34136	1.913000	0.55393	0.561000	0.74099	CGG		0.706	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1		NM_021228		4	5	0	0	0	0.009096	0	4	5		
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					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)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					uc002pzu.3		NaN																	0				ovary(1)	1						c.(931-933)CAT>CAC		zinc finger protein 83 isoform a							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_uc002pzv.3_Silent_p.H311H|ZNF83_uc010eps.2_Silent_p.H283H|ZNF83_uc010ept.2_Silent_p.H311H|ZNF83_uc010epu.2_Silent_p.H311H|ZNF83_uc010epv.2_Silent_p.H311H|ZNF83_uc010epw.2_Silent_p.H311H|ZNF83_uc010epx.2_Silent_p.H283H|ZNF83_uc010epy.2_Silent_p.H311H|ZNF83_uc010epz.2_Silent_p.H283H	p.H311H	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2177	-			311			C2H2-type 8.		A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1		NM_018300		3	129	0	0	0	0.004672	0	3	129		
LAIR1	3903	broad.mit.edu	37	19	54872615	54872615	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:54872615A>G	ENST00000391742.2	-	3	424	c.272T>C	c.(271-273)gTa>gCa	p.V91A	LAIR1_ENST00000391743.3_Missense_Mutation_p.V73A|LAIR1_ENST00000434277.2_Missense_Mutation_p.V90A|LAIR1_ENST00000474878.1_Missense_Mutation_p.V90A|LAIR1_ENST00000348231.4_Missense_Mutation_p.V91A|LAIR1_ENST00000313038.6_Missense_Mutation_p.V84A|LAIR1_ENST00000463489.1_Splice_Site			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	91	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TCCTTCACTTACTGAGTCAAT	0.498																																						uc002qfk.1		NaN																	0				ovary(4)	4						c.(271-273)GTA>GCA		leukocyte-associated immunoglobulin-like							199.0	184.0	189.0					19																	54872615		2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872615A>G	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.272T>C	19.37:g.54872615A>G	ENSP00000375622:p.Val91Ala					LAIR1_uc002qfl.1_Missense_Mutation_p.V91A|LAIR1_uc002qfm.1_Missense_Mutation_p.V90A|LAIR1_uc002qfn.1_Missense_Mutation_p.V90A|LAIR1_uc010yex.1_Missense_Mutation_p.V84A|LAIR1_uc002qfo.2_Missense_Mutation_p.V73A	p.V91A	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	3	582	-	Ovarian(34;0.19)		91			Extracellular (Potential).|Ig-like C2-type.			Missense_Mutation	SNP	ENST00000391742.2	37	c.272T>C	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	4.387	0.071492	0.08436	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;5.51	2.82	1.79	0.24919	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.789365	0.10398	N	0.679582	T	0.37293	0.0998	M	0.82132	2.575	0.09310	N	1	D;D;P;D;B;D	0.69078	0.959;0.993;0.918;0.977;0.093;0.997	P;D;P;D;B;D	0.68483	0.835;0.934;0.61;0.909;0.052;0.958	T	0.10753	-1.0616	10	0.51188	T	0.08	.	4.806	0.13321	0.8506:0.0:0.1494:0.0	.	91;73;90;90;91;91	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	A	73;91;90;91;84;90;85	ENSP00000375623:V73A;ENSP00000375622:V91A;ENSP00000391003:V90A;ENSP00000301193:V91A;ENSP00000319204:V84A;ENSP00000418998:V90A;ENSP00000392058:V85A	ENSP00000319204:V84A	V	-	2	0	LAIR1	59564427	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.146000	0.16180	0.492000	0.27815	0.473000	0.43528	GTA		0.498	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1				9	276	0	0	0	0.008291	0	9	276		
EPS8L1	54869	broad.mit.edu	37	19	55594761	55594761	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:55594761G>A	ENST00000201647.6	+	13	1286	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	EPS8L1_ENST00000586329.1_Silent_p.P392P|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Silent_p.P64P|EPS8L1_ENST00000540810.1_Silent_p.P346P|EPS8L1_ENST00000245618.5_Silent_p.P283P	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	410					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGCTGTCCCCGGAGGAGGGAC	0.627																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3		NaN																	0					0						c.(1228-1230)CCG>CCA		epidermal growth factor receptor pathway							18.0	21.0	20.0					19																	55594761		2155	4202	6357	SO:0001819	synonymous_variant	54869					cytoplasm		g.chr19:55594761G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1230G>A	19.37:g.55594761G>A						EPS8L1_uc010ess.1_Silent_p.P392P|EPS8L1_uc010est.1_Silent_p.P410P|EPS8L1_uc010yfr.1_Silent_p.P346P|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Silent_p.P283P|EPS8L1_uc002qiv.2_Silent_p.P56P|EPS8L1_uc002qiw.2_Silent_p.P157P	p.P410P	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	13	1334	+			410					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	37	c.1230G>A	CCDS12914.1																																																																																				0.627	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1		NM_017729		35	32	0	0	0	0.00623	0	35	32		
TMEM150B	284417	broad.mit.edu	37	19	55824272	55824272	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:55824272G>A	ENST00000326652.4	-	8	839	c.657C>T	c.(655-657)ctC>ctT	p.L219L	TMEM150B_ENST00000438693.1_Silent_p.L219L|CTD-2105E13.14_ENST00000596786.1_RNA	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	219						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GCGGGGGGCTGAGGCTGGGCC	0.672																																						uc010esw.1		NaN																	0					0						c.(655-657)CTC>CTT		transmembrane protein 150B precursor							12.0	16.0	15.0					19																	55824272		2078	4198	6276	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55824272G>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.657C>T	19.37:g.55824272G>A						TMEM150B_uc010yfu.1_Silent_p.L219L|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA	p.L219L	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN			8	830	-			219			Cytoplasmic (Potential).		B7ZW71	Silent	SNP	ENST00000326652.4	37	c.657C>T	CCDS42629.1																																																																																				0.672	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1		NM_001085488		7	13	0	0	0	0.004482	0	7	13		
ZNF784	147808	broad.mit.edu	37	19	56133794	56133794	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:56133794C>G	ENST00000325351.4	-	2	334	c.295G>C	c.(295-297)Gac>Cac	p.D99H	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	99					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCTCGGGTCCCCACCCTGC	0.726																																						uc002qll.1		NaN																	0					0						c.(295-297)GAC>CAC		zinc finger protein 784							9.0	8.0	8.0					19																	56133794		2135	4224	6359	SO:0001583	missense	147808				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56133794C>G	AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"""Zinc fingers, C2H2-type"""	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.295G>C	19.37:g.56133794C>G	ENSP00000320096:p.Asp99His					ZNF784_uc010etb.1_RNA	p.D99H	NM_203374	NP_976308	Q8NCA9	ZN784_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	309	-			99						Missense_Mutation	SNP	ENST00000325351.4	37	c.295G>C	CCDS12930.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214497	0.09810	.	.	ENSG00000179922	ENST00000325351	T	0.01685	4.69	3.0	0.871	0.19107	.	0.174652	0.27654	N	0.018407	T	0.01387	0.0045	N	0.19112	0.55	0.25194	N	0.990101	P	0.44578	0.838	B	0.41813	0.367	T	0.50634	-0.8805	10	0.87932	D	0	-23.1988	5.1138	0.14823	0.0:0.6081:0.0:0.3919	.	99	Q8NCA9	ZN784_HUMAN	H	99	ENSP00000320096:D99H	ENSP00000320096:D99H	D	-	1	0	ZNF784	60825606	0.055000	0.20627	0.250000	0.24296	0.118000	0.20060	0.998000	0.29744	0.323000	0.23307	0.462000	0.41574	GAC		0.726	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453355.2		NM_203374		4	19	0	0	0	0.009096	0	4	19		
ZNF548	147694	broad.mit.edu	37	19	57908503	57908503	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr19:57908503G>A	ENST00000366197.5	+	2	353	c.103G>A	c.(103-105)Gat>Aat	p.D35N	AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.D47N|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.D47N|ZNF548_ENST00000597400.1_Missense_Mutation_p.D47N|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_3'UTR	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGTACCGTGATGTGATGCT	0.532																																						uc002qom.2		NaN																	0				breast(1)	1						c.(103-105)GAT>AAT		zinc finger protein 548							444.0	403.0	417.0					19																	57908503		2203	4300	6503	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908503G>A	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.103G>A	19.37:g.57908503G>A	ENSP00000379482:p.Asp35Asn					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.D38N	p.D35N	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	353	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	35			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.103G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999242	0.35226	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.02498	4.27;4.27	2.55	-2.63	0.06133	Krueppel-associated box (4);	.	.	.	.	T	0.03477	0.0100	M	0.66506	2.035	0.09310	N	1	B;B	0.18166	0.021;0.026	B;B	0.17098	0.01;0.017	T	0.41574	-0.9501	9	0.49607	T	0.09	.	2.9332	0.05805	0.1089:0.3104:0.4179:0.1629	.	47;35	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	N	47;35	ENSP00000337555:D47N;ENSP00000379482:D35N	ENSP00000337555:D47N	D	+	1	0	ZNF548	62600315	0.000000	0.05858	0.002000	0.10522	0.485000	0.33311	-0.647000	0.05397	-0.446000	0.07149	0.563000	0.77884	GAT		0.532	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		169	425	0	0	0	0.01441	0	169	425		
TPO	7173	broad.mit.edu	37	2	1459852	1459852	+	Missense_Mutation	SNP	G	G	T	rs144088710		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:1459852G>T	ENST00000345913.4	+	7	708	c.617G>T	c.(616-618)cGg>cTg	p.R206L	TPO_ENST00000382201.3_Missense_Mutation_p.R206L|TPO_ENST00000329066.4_Missense_Mutation_p.R206L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.R206L|TPO_ENST00000337415.3_Missense_Mutation_p.R206L|TPO_ENST00000349624.3_Missense_Mutation_p.R206L|TPO_ENST00000346956.3_Missense_Mutation_p.R206L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	206					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCAGGTCCGGGAGGTGACA	0.502																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(616-618)CGG>CTG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						88.0	65.0	73.0					2																	1459852		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1459852G>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.617G>T	2.37:g.1459852G>T	ENSP00000318820:p.Arg206Leu					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.R206L|TPO_uc002qwr.2_Missense_Mutation_p.R206L|TPO_uc002qwx.2_Missense_Mutation_p.R206L|TPO_uc010yio.1_Missense_Mutation_p.R206L|TPO_uc010yip.1_Missense_Mutation_p.R206L	p.R206L	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	708	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	206			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.617G>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188130	0.57909	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.04	5.04	0.67666	.	0.125727	0.53938	D	0.000059	D	0.89339	0.6687	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.76575	0.98;0.986;0.98;0.988	D	0.91737	0.5401	10	0.87932	D	0	-42.5583	18.7337	0.91746	0.0:0.0:1.0:0.0	.	206;206;206;206	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	L	206;206;206;206;206;206;206;135	ENSP00000337263:R206L;ENSP00000318820:R206L;ENSP00000263886:R206L;ENSP00000332044:R206L;ENSP00000329869:R206L;ENSP00000371636:R206L;ENSP00000371633:R206L;ENSP00000405788:R135L	ENSP00000329869:R206L	R	+	2	0	TPO	1438859	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	8.134000	0.89606	2.485000	0.83878	0.563000	0.77884	CGG		0.502	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		4	19	1	0	0.000602214	0.000602	0.000627841	4	19		
BIRC6	57448	broad.mit.edu	37	2	32626615	32626615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:32626615G>A	ENST00000421745.2	+	8	1476	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	448					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCAGGAGTTGATTCAAGGAG	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(1342-1344)GAT>AAT		baculoviral IAP repeat-containing 6							105.0	106.0	106.0					2																	32626615		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32626615G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1342G>A	2.37:g.32626615G>A	ENSP00000393596:p.Asp448Asn						p.D448N	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			8	1476	+	Acute lymphoblastic leukemia(172;0.155)		448					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.1342G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497841	0.85069	.	.	ENSG00000115760	ENST00000421745	T	0.62364	0.03	5.92	5.92	0.95590	.	0.134612	0.51477	D	0.000085	T	0.47875	0.1469	N	0.08118	0	0.58432	D	0.999996	B	0.20780	0.048	B	0.20767	0.031	T	0.42155	-0.9468	10	0.54805	T	0.06	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	448	Q9NR09	BIRC6_HUMAN	N	448	ENSP00000393596:D448N	ENSP00000393596:D448N	D	+	1	0	BIRC6	32480119	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.414000	0.97362	2.813000	0.96785	0.561000	0.74099	GAT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		42	51	0	0	0	0.00623	0	42	51		
CYP1B1	1545	broad.mit.edu	37	2	38301609	38301609	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:38301609G>A	ENST00000260630.3	-	2	1324	c.923C>T	c.(922-924)tCg>tTg	p.S308L	CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000407341.1_Missense_Mutation_p.S308L|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	308					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	ACCACCGTGCGAGTCCCCGGC	0.652																																						uc002rqo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(922-924)TCG>TTG		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						21.0	26.0	24.0					2																	38301609		2200	4300	6500	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301609G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.923C>T	2.37:g.38301609G>A	ENSP00000260630:p.Ser308Leu						p.S308L	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	1326	-		all_hematologic(82;0.21)	308					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.923C>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020063	0.35606	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69175	-0.38;-0.38	4.89	4.89	0.63831	.	1.199360	0.05898	N	0.629481	T	0.72495	0.3467	M	0.75264	2.295	0.09310	N	1	P	0.44816	0.844	B	0.40636	0.335	T	0.66834	-0.5823	10	0.72032	D	0.01	.	15.6218	0.76813	0.0:0.0:1.0:0.0	.	308	Q53TK1	.	L	308	ENSP00000260630:S308L;ENSP00000384972:S308L	ENSP00000260630:S308L	S	-	2	0	CYP1B1	38155113	0.008000	0.16893	0.007000	0.13788	0.007000	0.05969	1.551000	0.36233	2.543000	0.85770	0.650000	0.86243	TCG		0.652	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3		NM_000104		20	27	0	0	0	0.010504	0	20	27		
GTF2A1L	11036	broad.mit.edu	37	2	48906488	48906488	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:48906488G>A	ENST00000403751.3	+	9	1381	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	GTF2A1L_ENST00000430487.2_Silent_p.K414K|STON1-GTF2A1L_ENST00000394754.1_Silent_p.K1152K|STON1-GTF2A1L_ENST00000309827.2_Silent_p.K1152K|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Silent_p.K1105K|STON1-GTF2A1L_ENST00000405008.1_Silent_p.K1152K	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	448					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCGAAGCAAGAACAAATGGA	0.353																																						uc010yol.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3313-3315)AAG>AAA		stonin 1							154.0	147.0	150.0					2																	48906488		2203	4299	6502	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48906488G>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1344G>A	2.37:g.48906488G>A						STON1-GTF2A1L_uc002rwp.1_Silent_p.K1152K|GTF2A1L_uc002rws.1_Silent_p.K448K|GTF2A1L_uc010yom.1_Silent_p.K414K|GTF2A1L_uc002rwt.2_Intron	p.K1105K	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	3362	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1105					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.3315G>A	CCDS46281.1																																																																																				0.353	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4		NM_006872		29	35	0	0	0	0.005443	0	29	35		
NRXN1	9378	broad.mit.edu	37	2	50318575	50318575	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:50318575C>G	ENST00000406316.2	-	19	5080	c.3604G>C	c.(3604-3606)Gaa>Caa	p.E1202Q	NRXN1_ENST00000406859.3_Missense_Mutation_p.E1202Q|NRXN1_ENST00000401710.1_Missense_Mutation_p.E220Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1194Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1202Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1194Q|NRXN1_ENST00000342183.5_Missense_Mutation_p.E167Q|NRXN1_ENST00000404971.1_Missense_Mutation_p.E1242Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1202	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCATTGGATTCTTCAATGGCG	0.438																																						uc010fbp.2		NaN																	0				ovary(2)	2						c.(499-501)GAA>CAA		neurexin 1 isoform beta precursor							209.0	178.0	188.0					2																	50318575		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50318575C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3604G>C	2.37:g.50318575C>G	ENSP00000384311:p.Glu1202Gln					NRXN1_uc002rxb.3_Missense_Mutation_p.E874Q|NRXN1_uc010fbq.2_Missense_Mutation_p.E1242Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E1202Q	p.E167Q	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		3	1306	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	167			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.499G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084692	0.94100	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78816	-1.15;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	U	0.000058	D	0.89174	0.6640	M	0.79805	2.47	0.53005	D	0.999965	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.85130	0.959;0.997;0.966;0.992	D	0.89965	0.4089	10	0.72032	D	0.01	.	19.4609	0.94916	0.0:1.0:0.0:0.0	.	1242;167;1202;1194	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	Q	167;121;220;1242;1202;1194;1202;1243;1194;1202	ENSP00000341184:E167Q;ENSP00000385580:E220Q;ENSP00000385142:E1242Q;ENSP00000384311:E1202Q;ENSP00000434015:E1194Q;ENSP00000385017:E1202Q;ENSP00000385434:E1194Q;ENSP00000385681:E1202Q	ENSP00000341184:E167Q	E	-	1	0	NRXN1	50172079	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.600000	0.87896	0.563000	0.77884	GAA		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				27	126	0	0	0	0.004656	0	27	126		
MTIF2	4528	broad.mit.edu	37	2	55464514	55464514	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:55464514C>A	ENST00000263629.4	-	15	2236	c.1921G>T	c.(1921-1923)Gtt>Ttt	p.V641F	MTIF2_ENST00000403721.1_Missense_Mutation_p.V641F|MTIF2_ENST00000394600.3_Missense_Mutation_p.V641F	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	641					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GCCACAGGAACTTTTTTCTTC	0.373																																						uc002ryn.2		NaN																	0				ovary(1)	1						c.(1921-1923)GTT>TTT		mitochondrial translational initiation factor 2							76.0	75.0	75.0					2																	55464514		2203	4300	6503	SO:0001583	missense	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55464514C>A	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1921G>T	2.37:g.55464514C>A	ENSP00000263629:p.Val641Phe					MTIF2_uc010yox.1_Missense_Mutation_p.V310F|MTIF2_uc002ryo.2_Missense_Mutation_p.V641F	p.V641F	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			16	2658	-			641					D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	c.1921G>T	CCDS1853.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478780	0.63849	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600	T;T;T	0.58797	0.31;0.31;0.31	5.36	0.71	0.18157	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.366777	0.28098	N	0.016606	T	0.55016	0.1894	M	0.66939	2.045	0.53005	D	0.999965	P	0.36733	0.567	B	0.42087	0.375	T	0.50180	-0.8858	10	0.52906	T	0.07	-3.5317	7.4239	0.27088	0.0:0.5459:0.2276:0.2265	.	641	P46199	IF2M_HUMAN	F	641	ENSP00000384481:V641F;ENSP00000263629:V641F;ENSP00000378099:V641F	ENSP00000263629:V641F	V	-	1	0	MTIF2	55318018	0.974000	0.33945	0.995000	0.50966	0.967000	0.64934	0.393000	0.20817	-0.092000	0.12417	-0.300000	0.09419	GTT		0.373	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4		NM_002453		11	49	1	0	1.08611e-07	0.010729	1.13838e-07	11	49		
IMMT	10989	broad.mit.edu	37	2	86389141	86389141	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:86389141C>T	ENST00000410111.3	-	8	1241	c.854G>A	c.(853-855)aGa>aAa	p.R285K	IMMT_ENST00000254636.5_Missense_Mutation_p.R186K|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Missense_Mutation_p.R238K|IMMT_ENST00000442664.2_Missense_Mutation_p.R284K|IMMT_ENST00000449247.2_Missense_Mutation_p.R274K|Y_RNA_ENST00000363371.1_RNA	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	285					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACTGCCTTTCTGCGTTCCTT	0.428																																						uc002sqz.3		NaN																	0				skin(1)	1						c.(853-855)AGA>AAA		inner membrane protein, mitochondrial isoform 1							49.0	50.0	50.0					2																	86389141		1925	4157	6082	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86389141C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.854G>A	2.37:g.86389141C>T	ENSP00000387262:p.Arg285Lys					IMMT_uc002sqy.3_Missense_Mutation_p.R26K|IMMT_uc002srb.3_Missense_Mutation_p.R274K|IMMT_uc002sra.3_Missense_Mutation_p.R284K|IMMT_uc010ytd.1_Missense_Mutation_p.R273K|IMMT_uc010yte.1_Missense_Mutation_p.R238K|IMMT_uc002src.1_Missense_Mutation_p.R26K|IMMT_uc002srd.2_Missense_Mutation_p.R285K|IMMT_uc002sre.3_Missense_Mutation_p.R273K|IMMT_uc010ytf.1_Missense_Mutation_p.R207K|IMMT_uc010fgs.1_Missense_Mutation_p.R282K	p.R285K	NM_006839	NP_006830	Q16891	IMMT_HUMAN			8	1242	-			285			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.854G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352991	0.61293	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715	T;T;T;T;T	0.28069	1.63;1.64;1.65;1.65;1.67	5.15	5.15	0.70609	.	0.200163	0.53938	D	0.000052	T	0.42562	0.1208	L	0.34521	1.04	0.31238	N	0.695529	B;B;B;D;D;B;B;B;B;B	0.65815	0.203;0.024;0.1;0.995;0.983;0.082;0.1;0.082;0.082;0.1	B;B;B;D;D;B;B;B;B;B	0.80764	0.037;0.098;0.063;0.994;0.944;0.037;0.098;0.037;0.059;0.063	T	0.24905	-1.0147	10	0.08599	T	0.76	-16.4231	18.567	0.91120	0.0:1.0:0.0:0.0	.	274;238;273;282;273;253;187;274;253;285	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;B4DS66;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;.;IMMT_HUMAN	K	186;274;285;284;238;274;253;207	ENSP00000254636:R186K;ENSP00000396899:R274K;ENSP00000387262:R285K;ENSP00000407788:R284K;ENSP00000387227:R238K	ENSP00000254636:R186K	R	-	2	0	IMMT	86242652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.088000	0.57678	2.552000	0.86080	0.478000	0.44815	AGA		0.428	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2		NM_006839		12	9	0	0	0	0.003163	0	12	9		
GCC2	9648	broad.mit.edu	37	2	109086467	109086467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:109086467C>T	ENST00000309863.6	+	6	1396	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	228					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGCTAATTCTCAGCATTACCA	0.358																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(682-684)CAG>TAG		GRIP and coiled-coil domain-containing 2							63.0	72.0	69.0					2																	109086467		2203	4300	6503	SO:0001587	stop_gained	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086467C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.682C>T	2.37:g.109086467C>T	ENSP00000307939:p.Gln228*					GCC2_uc002ted.2_Nonsense_Mutation_p.Q127*	p.Q228*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	836	+			228			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	c.682C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053446	0.36181	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	.	.	.	5.02	5.02	0.67125	.	0.216241	0.40728	N	0.001034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.331	0.66556	0.0:0.8516:0.1484:0.0	.	.	.	.	X	228;228;231;191	.	ENSP00000307939:Q228X	Q	+	1	0	GCC2	108452899	0.807000	0.29009	0.997000	0.53966	0.547000	0.35210	0.701000	0.25616	2.476000	0.83614	0.305000	0.20034	CAG		0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		48	62	0	0	0	0.011902	0	48	62		
POLR1B	84172	broad.mit.edu	37	2	113315529	113315529	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:113315529G>C	ENST00000263331.5	+	8	1781	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	POLR1B_ENST00000417433.2_Missense_Mutation_p.D345H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D439H|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000537335.1_Missense_Mutation_p.D190H	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	401					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AATAGCTTTTGATAAGAAGGC	0.343																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NaN																	0				ovary(1)	1						c.(1201-1203)GAT>CAT		RNA polymerase I polypeptide B isoform 1							57.0	59.0	58.0					2																	113315529		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113315529G>C	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1201G>C	2.37:g.113315529G>C	ENSP00000263331:p.Asp401His					POLR1B_uc010fkn.2_Missense_Mutation_p.D345H|POLR1B_uc002thx.2_Missense_Mutation_p.D262H|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.D439H|POLR1B_uc002thy.2_Missense_Mutation_p.D262H|POLR1B_uc010yxo.1_Missense_Mutation_p.D178H	p.D401H	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			8	1781	+			401					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1201G>C	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210947	0.79240	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.77229	-0.01;-0.01;-1.08;-0.01	6.04	6.04	0.98038	RNA polymerase, beta subunit, protrusion (1);	0.173603	0.64402	D	0.000008	D	0.85405	0.5689	L	0.55481	1.735	0.80722	D	1	P;B;D	0.60575	0.941;0.005;0.988	P;B;P	0.62813	0.735;0.006;0.907	D	0.84967	0.0880	10	0.59425	D	0.04	-27.519	19.3507	0.94384	0.0:0.0:1.0:0.0	.	439;345;401	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	H	401;439;190;345	ENSP00000263331:D401H;ENSP00000444136:D439H;ENSP00000437914:D190H;ENSP00000405358:D345H	ENSP00000263331:D401H	D	+	1	0	POLR1B	113032000	1.000000	0.71417	0.976000	0.42696	0.980000	0.70556	6.022000	0.70839	2.873000	0.98535	0.561000	0.74099	GAT		0.343	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1		NM_019014		5	12	0	0	0	0.000602	0	5	12		
LRP1B	53353	broad.mit.edu	37	2	140995786	140995786	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:140995786C>T	ENST00000389484.3	-	89	14466	c.13495G>A	c.(13495-13497)Gag>Aag	p.E4499K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4499					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCTACCTCATACATGTTA	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13495-13497)GAG>AAG		low density lipoprotein-related protein 1B							202.0	188.0	193.0					2																	140995786		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995786C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13495G>A	2.37:g.140995786C>T	ENSP00000374135:p.Glu4499Lys	TSP Lung(27;0.18)					p.E4499K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	89	14467	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4499			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13495G>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.083239|5.083239	0.94050|0.94050	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.91237|.	-2.81|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76891|0.76891	0.4051|0.4051	M|M	0.71206|0.71206	2.165|2.165	0.53005|0.53005	D|D	0.999968|0.999968	D|.	0.69078|.	0.997|.	D|.	0.75020|.	0.985|.	T|T	0.74402|0.74402	-0.3677|-0.3677	10|5	0.66056|.	D|.	0.02|.	.|.	20.0784|20.0784	0.97758|0.97758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4499|.	Q9NZR2|.	LRP1B_HUMAN|.	K|I	4499;4437|730;268	ENSP00000374135:E4499K|.	ENSP00000374135:E4499K|.	E|M	-|-	1|3	0|0	LRP1B|LRP1B	140712256|140712256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.294000|7.294000	0.78760|0.78760	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		11	54	0	0	0	0.008291	0	11	54		
OLA1	29789	broad.mit.edu	37	2	175006600	175006600	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:175006600C>G	ENST00000409546.1	-	5	1192	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	OLA1_ENST00000344357.5_Missense_Mutation_p.E10Q|OLA1_ENST00000284719.3_Missense_Mutation_p.E168Q|OLA1_ENST00000428402.2_Missense_Mutation_p.E168Q					Obg-like ATPase 1									p.E168Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCCACCTTTTCTAGTTTATCT	0.328																																						uc002uih.2		NaN																	1	Substitution - Missense(1)	p.E168Q(1)	breast(1)	ovary(1)|breast(1)	2						c.(502-504)GAA>CAA		Obg-like ATPase 1 isoform 1							93.0	92.0	92.0					2																	175006600		2203	4300	6503	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175006600C>G		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.562G>C	2.37:g.175006600C>G	ENSP00000386350:p.Glu188Gln					OLA1_uc002uii.2_Missense_Mutation_p.E10Q|OLA1_uc010fqq.2_Missense_Mutation_p.E168Q|OLA1_uc002uij.2_Missense_Mutation_p.E10Q|OLA1_uc002uik.2_Missense_Mutation_p.E138Q|OLA1_uc010fqr.2_Missense_Mutation_p.E168Q	p.E168Q	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			5	688	-			168		E -> Q (in a breast cancer sample; somatic mutation).				Missense_Mutation	SNP	ENST00000409546.1	37	c.502G>C		.	.	.	.	.	.	.	.	.	.	C	16.75	3.210661	0.58343	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000428402;ENST00000409546;ENST00000429575	T;T;T;T	0.47177	2.24;2.24;0.85;2.24	5.57	5.57	0.84162	TGS-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.61218	1.895	0.80722	D	1	P;P;B;P	0.36974	0.57;0.576;0.008;0.576	B;P;B;P	0.44673	0.211;0.457;0.02;0.457	T	0.48422	-0.9037	10	0.23891	T	0.37	-0.3105	19.5396	0.95268	0.0:1.0:0.0:0.0	.	168;168;10;168	Q9NTK5-3;D7EHM2;Q9NTK5-2;Q9NTK5	.;.;.;OLA1_HUMAN	Q	168;10;168;188;10	ENSP00000284719:E168Q;ENSP00000340167:E10Q;ENSP00000410385:E168Q;ENSP00000386350:E188Q	ENSP00000284719:E168Q	E	-	1	0	OLA1	174714846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.611000	0.88343	0.591000	0.81541	GAA		0.328	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1		NM_013341		18	48	0	0	0	0.010504	0	18	48		
CIR1	9541	broad.mit.edu	37	2	175213677	175213677	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:175213677C>T	ENST00000342016.3	-	10	993	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	301	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TTGTTATGCCCTGAACACttg	0.378																																						uc002uim.2		NaN																	0				large_intestine(1)	1						c.(901-903)GGG>AGG		CBF1 interacting corepressor							142.0	143.0	143.0					2																	175213677		2202	4300	6502	SO:0001583	missense	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213677C>T	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.901G>A	2.37:g.175213677C>T	ENSP00000339723:p.Gly301Arg					CIR1_uc002uin.2_Missense_Mutation_p.G175R|CIR1_uc002uio.2_Missense_Mutation_p.G128R|CIR1_uc002uip.2_Missense_Mutation_p.G190R	p.G301R	NM_004882	NP_004873	Q86X95	CIR1_HUMAN			10	994	-			301			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	c.901G>A	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	7.086	0.571204	0.13623	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	0.722	0.18225	.	1.232330	0.05339	N	0.529758	T	0.31482	0.0798	L	0.44542	1.39	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.16630	-1.0396	9	0.16420	T	0.52	.	4.1338	0.10160	0.2669:0.4899:0.0:0.2431	.	301;301	A0PJI7;Q86X95	.;CIR1_HUMAN	R	301	.	ENSP00000339723:G301R	G	-	1	0	CIR1	174921923	0.001000	0.12720	0.000000	0.03702	0.530000	0.34684	0.727000	0.25999	-0.150000	0.11195	0.650000	0.86243	GGG		0.378	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1		NM_004882		33	66	0	0	0	0.010818	0	33	66		
TTN	7273	broad.mit.edu	37	2	179424596	179424596	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:179424596C>T	ENST00000591111.1	-	276	81564	c.81340G>A	c.(81340-81342)Gat>Aat	p.D27114N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D26187N|TTN_ENST00000460472.2_Missense_Mutation_p.D19690N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19882N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19815N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D28755N			Q8WZ42	TITIN_HUMAN	titin	27114	Ig-like 129.				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)			CTGTCAATATCAAATAAAGGT	0.433																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(78559-78561)GAT>AAT		titin isoform N2-A							126.0	123.0	124.0					2																	179424596		1938	4138	6076	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424596C>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.81340G>A	2.37:g.179424596C>T	ENSP00000465570:p.Asp27114Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D19882N|TTN_uc010zfi.1_Missense_Mutation_p.D19815N|TTN_uc010zfj.1_Missense_Mutation_p.D19690N	p.D26187N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78783	-			27114					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.78559G>A		.	.	.	.	.	.	.	.	.	.	C	15.49	2.849569	0.51270	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.16;0.14;0.13	5.87	5.87	0.94306	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70544	0.3236	L	0.55213	1.73	0.58432	D	0.999993	P;P;P;P	0.36354	0.549;0.549;0.549;0.549	P;P;P;P	0.46172	0.506;0.506;0.506;0.506	T	0.70296	-0.4911	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	19690;19815;19882;27114	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	26187;19690;19882;19815;19687	ENSP00000343764:D26187N;ENSP00000434586:D19690N;ENSP00000340554:D19882N;ENSP00000352154:D19815N	ENSP00000340554:D19882N	D	-	1	0	TTN	179132842	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.857000	0.62939	2.941000	0.99782	0.655000	0.94253	GAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		32	63	0	0	0	0.012213	0	32	63		
CERKL	375298	broad.mit.edu	37	2	182438553	182438553	+	Missense_Mutation	SNP	T	T	A	rs149505471	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:182438553T>A	ENST00000339098.5	-	3	539	c.540A>T	c.(538-540)aaA>aaT	p.K180N	CERKL_ENST00000374970.2_Missense_Mutation_p.K180N|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000410087.3_Missense_Mutation_p.K180N|CERKL_ENST00000409440.3_Intron			Q49MI3	CERKL_HUMAN	ceramide kinase-like	180	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGTAGCTTCTTTTTTGTGAC	0.333																																						uc002unx.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(538-540)AAA>AAT		ceramide kinase-like isoform b							86.0	95.0	92.0					2																	182438553		2201	4299	6500	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182438553T>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.540A>T	2.37:g.182438553T>A	ENSP00000341159:p.Lys180Asn					CERKL_uc002uny.2_Missense_Mutation_p.K180N|CERKL_uc010zfm.1_Intron|CERKL_uc002unz.2_Translation_Start_Site|CERKL_uc002uoa.2_Missense_Mutation_p.K180N|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Translation_Start_Site|CERKL_uc002uoe.2_Missense_Mutation_p.K180N	p.K180N	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		3	641	-			180			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.540A>T	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835869	0.71373	.	.	ENSG00000188452	ENST00000410087;ENST00000339098;ENST00000374970	T;T;T	0.22539	1.95;1.95;2.61	5.94	-0.4	0.12411	Diacylglycerol kinase, catalytic domain (2);	0.052398	0.64402	D	0.000001	T	0.38241	0.1033	M	0.69823	2.125	0.28002	N	0.935235	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.68621	0.943;0.941;0.959	T	0.22452	-1.0216	10	0.66056	D	0.02	.	9.8289	0.40930	0.0:0.3421:0.0:0.6579	.	180;180;180	Q49MI3-3;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	N	180	ENSP00000386725:K180N;ENSP00000341159:K180N;ENSP00000364109:K180N	ENSP00000341159:K180N	K	-	3	2	CERKL	182146798	1.000000	0.71417	0.993000	0.49108	0.913000	0.54294	0.853000	0.27777	-0.274000	0.09232	0.455000	0.32223	AAA		0.333	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1				19	34	0	0	0	0.012319	0	19	34		
STAT4	6775	broad.mit.edu	37	2	191897696	191897696	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:191897696G>C	ENST00000392320.2	-	21	2346	c.2032C>G	c.(2032-2034)Cag>Gag	p.Q678E	STAT4_ENST00000358470.4_Missense_Mutation_p.Q678E|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	678					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCGCAAGGCTGAGAGCTGTAG	0.368																																						uc002usm.1		NaN																	0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(2032-2034)CAG>GAG		signal transducer and activator of transcription							126.0	124.0	125.0					2																	191897696		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897696G>C		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2032C>G	2.37:g.191897696G>C	ENSP00000376134:p.Gln678Glu					STAT4_uc002usn.1_Missense_Mutation_p.Q678E|STAT4_uc010zgk.1_Missense_Mutation_p.Q523E|STAT4_uc002uso.2_Missense_Mutation_p.Q678E	p.Q678E	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2286	-			678					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.2032C>G	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	8.635	0.894617	0.17613	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96104	-3.91;-3.91	5.65	5.65	0.86999	SH2 motif (2);	0.406327	0.23646	N	0.045962	D	0.90995	0.7168	L	0.29908	0.895	0.80722	D	1	P;P;P	0.39535	0.677;0.677;0.677	B;B;B	0.36989	0.238;0.18;0.238	D	0.88931	0.3373	10	0.02654	T	1	-32.0696	20.0845	0.97795	0.0:0.0:1.0:0.0	.	587;678;678	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	E	678	ENSP00000351255:Q678E;ENSP00000376134:Q678E	ENSP00000351255:Q678E	Q	-	1	0	STAT4	191605941	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	9.336000	0.96533	2.821000	0.97095	0.650000	0.86243	CAG		0.368	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1		NM_003151		11	37	0	0	0	0.010729	0	11	37		
FZD7	8324	broad.mit.edu	37	2	202900750	202900750	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:202900750G>C	ENST00000286201.1	+	1	1441	c.1380G>C	c.(1378-1380)aaG>aaC	p.K460N	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	460					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGGCACCAAGACCGAGAAGC	0.592											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1378-1380)AAG>AAC		frizzled 7 precursor							117.0	94.0	102.0					2																	202900750		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900750G>C	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1380G>C	2.37:g.202900750G>C	ENSP00000286201:p.Lys460Asn		OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.K460N	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	1441	+			460			Cytoplasmic (Potential).		O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.1380G>C	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464490	0.43736	.	.	ENSG00000155760	ENST00000286201	D	0.82803	-1.65	5.53	4.66	0.58398	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.80031	0.4549	L	0.54323	1.7	0.52501	D	0.999955	P	0.42871	0.792	P	0.46419	0.516	T	0.74624	-0.3603	10	0.13853	T	0.58	.	8.8217	0.35030	0.2247:0.0:0.7753:0.0	.	460	O75084	FZD7_HUMAN	N	460	ENSP00000286201:K460N	ENSP00000286201:K460N	K	+	3	2	FZD7	202608995	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.316000	0.51960	1.345000	0.45676	0.561000	0.74099	AAG		0.592	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1		NM_003507		16	35	0	0	0	0.008871	0	16	35		
SPHKAP	80309	broad.mit.edu	37	2	228882308	228882308	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr2:228882308C>G	ENST00000392056.3	-	7	3308	c.3262G>C	c.(3262-3264)Gag>Cag	p.E1088Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1088Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1088						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGTCTTCCTCAGGAATGCTT	0.632																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(3262-3264)GAG>CAG		sphingosine kinase type 1-interacting protein							36.0	38.0	37.0					2																	228882308		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882308C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3262G>C	2.37:g.228882308C>G	ENSP00000375909:p.Glu1088Gln					SPHKAP_uc002vpp.2_Missense_Mutation_p.E1088Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1088Q	p.E1088Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3309	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1088					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3262G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172707	0.78452	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27557	1.68;1.66	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.40194	-0.9576	10	0.72032	D	0.01	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	119;1088;1088	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1088	ENSP00000375909:E1088Q;ENSP00000339886:E1088Q	ENSP00000339886:E1088Q	E	-	1	0	SPHKAP	228590552	1.000000	0.71417	0.968000	0.41197	0.619000	0.37552	7.194000	0.77789	2.894000	0.99253	0.655000	0.94253	GAG		0.632	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		10	34	0	0	0	0.013537	0	10	34		
FAM110A	83541	broad.mit.edu	37	20	825768	825768	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:825768C>T	ENST00000304189.2	+	3	702	c.321C>T	c.(319-321)ctC>ctT	p.L107L	FAM110A_ENST00000246100.3_Silent_p.L107L|FAM110A_ENST00000381941.3_Silent_p.L107L|FAM110A_ENST00000541082.1_Silent_p.L107L|FAM110A_ENST00000381939.1_Silent_p.L107L			Q9BQ89	F110A_HUMAN	family with sequence similarity 110, member A	107						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|lung(2)	3						TGGACATCCTCAGCAGCCTCA	0.721																																						uc002wef.1		NaN																	0					0						c.(319-321)CTC>CTT		hypothetical protein LOC83541							14.0	13.0	13.0					20																	825768		2181	4285	6466	SO:0001819	synonymous_variant	83541					microtubule organizing center|spindle pole	protein binding	g.chr20:825768C>T	BC012800	CCDS13008.1	20p13	2007-06-21	2007-03-21	2007-03-21	ENSG00000125898	ENSG00000125898			16188	protein-coding gene	gene with protein product		611393	"""chromosome 20 open reading frame 55"""	C20orf55		17499476	Standard	NM_001042353		Approved	bA371L19.3	uc002wef.1	Q9BQ89	OTTHUMG00000031649	ENST00000304189.2:c.321C>T	20.37:g.825768C>T						FAM110A_uc002weg.1_Silent_p.L107L|FAM110A_uc002weh.1_Silent_p.L107L|FAM110A_uc010fzz.2_RNA	p.L107L	NM_001042353	NP_001035812	Q9BQ89	F110A_HUMAN			2	657	+			107					D3DVW2|Q5R1M7	Silent	SNP	ENST00000304189.2	37	c.321C>T	CCDS13008.1																																																																																				0.721	FAM110A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077489.1		NM_031424		9	9	0	0	0	0.010729	0	9	9		
SIRPB2	284759	broad.mit.edu	37	20	1456880	1456880	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:1456880C>T	ENST00000359801.3	-	5	997	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SIRPB2_ENST00000444444.2_Missense_Mutation_p.E223K|SIRPB2_ENST00000608747.1_5'Flank	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	355	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGACATCTTCTTGCCCAGGG	0.597																																						uc002wfg.2		NaN																	0					0						c.(961-963)GAA>AAA		signal-regulatory protein beta 2 isoform 1							125.0	110.0	114.0					20																	1456880		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1456880C>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.961G>A	20.37:g.1456880C>T	ENSP00000352849:p.Glu321Lys					SIRPB2_uc002wfh.3_Missense_Mutation_p.E223K	p.E321K	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN			5	1189	-			321			Cytoplasmic (Potential).		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.961G>A	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947630	0.53186	.	.	ENSG00000196209	ENST00000359801;ENST00000444444	T;T	0.02158	4.65;4.42	3.53	3.53	0.40419	.	1.732920	0.03596	N	0.232659	T	0.02610	0.0079	N	0.19112	0.55	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.32289	0.143;0.109	T	0.52734	-0.8536	10	0.62326	D	0.03	-24.2986	13.3528	0.60611	0.0:1.0:0.0:0.0	.	223;321	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	K	321;223	ENSP00000352849:E321K;ENSP00000402438:E223K	ENSP00000352849:E321K	E	-	1	0	SIRPB2	1404880	0.457000	0.25752	0.038000	0.18304	0.092000	0.18411	2.469000	0.45110	2.266000	0.75297	0.491000	0.48974	GAA		0.597	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1		NM_178459		65	139	0	0	0	0.01441	0	65	139		
NOP56	10528	broad.mit.edu	37	20	2635071	2635071	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635071G>C	ENST00000329276.5	+	4	736	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORA51_ENST00000606420.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	74					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGTTGTTCATGAGGACCTCCG	0.542																																						uc002wgh.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(220-222)GAG>CAG		nucleolar protein 5A							66.0	66.0	66.0					20																	2635071		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635071G>C	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.220G>C	20.37:g.2635071G>C	ENSP00000370589:p.Glu74Gln					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	p.E74Q	NM_006392	NP_006383	O00567	NOP56_HUMAN			4	273	+			74					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.220G>C	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884942	0.72410	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.59224	0.28;0.89	5.89	5.89	0.94794	.	0.044283	0.85682	D	0.000000	T	0.52773	0.1755	L	0.43152	1.355	0.58432	D	0.999997	B	0.29716	0.255	B	0.28991	0.097	T	0.48592	-0.9022	10	0.40728	T	0.16	-28.7954	17.7407	0.88406	0.0:0.0:1.0:0.0	.	74	O00567	NOP56_HUMAN	Q	74	ENSP00000370589:E74Q;ENSP00000388497:E74Q	ENSP00000370589:E74Q	E	+	1	0	NOP56	2583071	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.660000	0.98599	2.781000	0.95711	0.555000	0.69702	GAG		0.542	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2		NM_006392		31	53	0	0	0	0.010818	0	31	53		
NOP56	10528	broad.mit.edu	37	20	2635517	2635517	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635517G>C	ENST00000329276.5	+	5	1009	c.493G>C	c.(493-495)Gac>Cac	p.D165H	SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORA51_ENST00000606420.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	165					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GAACCGGGTGGACAATATGAT	0.502																																						uc002wgh.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(493-495)GAC>CAC		nucleolar protein 5A							171.0	166.0	168.0					20																	2635517		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635517G>C	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.493G>C	20.37:g.2635517G>C	ENSP00000370589:p.Asp165His					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	p.D165H	NM_006392	NP_006383	O00567	NOP56_HUMAN			5	546	+			165					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.493G>C	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316333	0.81469	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.80123	-1.34;-1.34	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95101	0.8230	10	0.87932	D	0	-32.7796	17.7407	0.88406	0.0:0.0:1.0:0.0	.	165	O00567	NOP56_HUMAN	H	165	ENSP00000370589:D165H;ENSP00000388497:D165H	ENSP00000370589:D165H	D	+	1	0	NOP56	2583517	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	9.603000	0.98315	2.781000	0.95711	0.555000	0.69702	GAC		0.502	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2		NM_006392		132	120	0	0	0	0.01441	0	132	120		
TMX4	56255	broad.mit.edu	37	20	7963265	7963265	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:7963265T>A	ENST00000246024.2	-	8	898	c.683A>T	c.(682-684)cAg>cTg	p.Q228L		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	228	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TCTCCGATTCTGCTCTATGGA	0.398																																						uc002wmx.1		NaN																	0					0						c.(682-684)CAG>CTG		thioredoxin-related transmembrane protein 4							56.0	52.0	53.0					20																	7963265		2202	4300	6502	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963265T>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.683A>T	20.37:g.7963265T>A	ENSP00000246024:p.Gln228Leu						p.Q228L	NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN			8	816	-			228			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.683A>T	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	T	3.295	-0.144188	0.06627	.	.	ENSG00000125827	ENST00000246024	T	0.10860	2.83	6.03	2.06	0.26882	.	0.881953	0.09885	N	0.743158	T	0.11196	0.0273	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32508	-0.9904	10	0.25106	T	0.35	-0.4162	5.3711	0.16140	0.2242:0.0:0.299:0.4768	.	228	Q9H1E5	TMX4_HUMAN	L	228	ENSP00000246024:Q228L	ENSP00000246024:Q228L	Q	-	2	0	TMX4	7911265	0.812000	0.29077	0.843000	0.33291	0.184000	0.23303	0.410000	0.21098	1.071000	0.40834	0.455000	0.32223	CAG		0.398	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2		NM_021156		27	57	0	0	0	0.00632	0	27	57		
FLRT3	23767	broad.mit.edu	37	20	14307164	14307164	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:14307164C>T	ENST00000378053.3	-	2	1245	c.989G>A	c.(988-990)cGt>cAt	p.R330H	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R330H|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	330	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CATGAGCCCACGCACGTTGAC	0.473																																						uc002wov.1		NaN																	0				kidney(1)	1						c.(988-990)CGT>CAT		fibronectin leucine rich transmembrane protein 3							128.0	113.0	118.0					20																	14307164		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307164C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.989G>A	20.37:g.14307164C>T	ENSP00000367292:p.Arg330His					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.R330H	p.R330H	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1456	-		Colorectal(1;0.0464)	330			Extracellular (Potential).|LRRCT.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.989G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494951	0.64186	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.61510	0.1;0.1	6.06	6.06	0.98353	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76948	0.4059	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73113	-0.4085	10	0.40728	T	0.16	-9.2655	20.6397	0.99537	0.0:1.0:0.0:0.0	.	330	Q9NZU0	FLRT3_HUMAN	H	330	ENSP00000367292:R330H;ENSP00000339912:R330H	ENSP00000339912:R330H	R	-	2	0	FLRT3	14255164	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.089000	0.71384	2.880000	0.98712	0.650000	0.86243	CGT		0.473	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1		NM_013281		40	124	0	0	0	0.007835	0	40	124		
CST9L	128821	broad.mit.edu	37	20	23549013	23549013	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:23549013C>T	ENST00000376979.3	-	1	373	c.75G>A	c.(73-75)ctG>ctA	p.L25L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	25						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AGGCATAGATCAGCAGGATCT	0.567																																						uc002wtk.3		NaN																	0					0						c.(73-75)CTG>CTA		cystatin 9-like precursor							118.0	103.0	108.0					20																	23549013		2203	4300	6503	SO:0001819	synonymous_variant	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23549013C>T		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.75G>A	20.37:g.23549013C>T							p.L25L	NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN			1	374	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		25					B2R5A1	Silent	SNP	ENST00000376979.3	37	c.75G>A	CCDS13157.1																																																																																				0.567	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1		NM_080610		33	21	0	0	0	0.012213	0	33	21		
SNTA1	6640	broad.mit.edu	37	20	32000163	32000163	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:32000163G>C	ENST00000217381.2	-	5	1250	c.979C>G	c.(979-981)Ctc>Gtc	p.L327V		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	327	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GTCTCGGGGAGAGACAAGTAG	0.632																																						uc002wzd.1		NaN																	0				skin(1)	1						c.(979-981)CTC>GTC		acidic alpha 1 syntrophin							20.0	25.0	23.0					20																	32000163		2203	4298	6501	SO:0001583	missense	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32000163G>C	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.979C>G	20.37:g.32000163G>C	ENSP00000217381:p.Leu327Val					SNTA1_uc010zuf.1_Intron	p.L327V	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			5	1251	-			327			PH 2.		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	c.979C>G	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203918	0.09704	.	.	ENSG00000101400	ENST00000217381	T	0.71817	-0.6	4.99	4.99	0.66335	Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.52629	0.1746	N	0.16790	0.44	0.54753	D	0.999987	B	0.29188	0.236	B	0.28553	0.091	T	0.53968	-0.8363	10	0.02654	T	1	-7.3669	17.8857	0.88854	0.0:0.0:1.0:0.0	.	327	Q13424	SNTA1_HUMAN	V	327	ENSP00000217381:L327V	ENSP00000217381:L327V	L	-	1	0	SNTA1	31463824	0.989000	0.36119	0.907000	0.35723	0.067000	0.16453	2.008000	0.40893	2.297000	0.77311	0.462000	0.41574	CTC		0.632	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2		NM_003098		13	35	0	0	0	0.004007	0	13	35		
ITCH	83737	broad.mit.edu	37	20	33026353	33026353	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:33026353C>G	ENST00000262650.6	+	9	855	c.719C>G	c.(718-720)tCt>tGt	p.S240C	ITCH_ENST00000535650.1_Missense_Mutation_p.S89C|ITCH_ENST00000374864.4_Missense_Mutation_p.S199C			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	240					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGGAATAATTCTCCATCACTC	0.483																																						uc010geu.1		NaN																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(718-720)TCT>TGT		itchy homolog E3 ubiquitin protein ligase							156.0	136.0	143.0					20																	33026353		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33026353C>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.719C>G	20.37:g.33026353C>G	ENSP00000262650:p.Ser240Cys					ITCH_uc002xak.2_Missense_Mutation_p.S199C|ITCH_uc010zuj.1_Missense_Mutation_p.S89C	p.S240C	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			9	911	+			240					A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.719C>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996197	0.74703	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.34472	1.42;1.36;1.81	5.12	5.12	0.69794	.	0.237159	0.44097	D	0.000483	T	0.49898	0.1584	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.971;0.998;0.922	T	0.49011	-0.8983	10	0.51188	T	0.08	.	16.3636	0.83296	0.0:1.0:0.0:0.0	.	151;240;199	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	C	199;89;240	ENSP00000363998:S199C;ENSP00000445608:S89C;ENSP00000262650:S240C	ENSP00000262650:S240C	S	+	2	0	ITCH	32490014	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.382000	0.73167	2.384000	0.81235	0.655000	0.94253	TCT		0.483	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2				72	56	0	0	0	0.01441	0	72	56		
RPRD1B	58490	broad.mit.edu	37	20	36662412	36662412	+	Silent	SNP	G	G	A	rs17853182		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:36662412G>A	ENST00000373433.4	+	1	465	c.63G>A	c.(61-63)caG>caA	p.Q21Q	TTI1_ENST00000373448.2_5'Flank|TTI1_ENST00000373447.3_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	21	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.			Q -> H (in Ref. 5; AAH33629). {ECO:0000305}.	dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACTCTCAGCAGAGCGTGCAGA	0.642																																						uc002xho.3		NaN																	0				pancreas(1)	1						c.(61-63)CAG>CAA		Regulation of nuclear pre-mRNA domain containing							92.0	79.0	83.0					20																	36662412		2203	4300	6503	SO:0001819	synonymous_variant	58490							g.chr20:36662412G>A	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.63G>A	20.37:g.36662412G>A						KIAA0406_uc002xhl.2_5'Flank|KIAA0406_uc002xhm.2_5'Flank	p.Q21Q	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN			1	465	+			21	Q -> H (in Ref. 5; AAH33629).		CID.		Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	c.63G>A	CCDS13301.1																																																																																				0.642	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2		NM_021215		58	91	0	0	0	0.01441	0	58	91		
ELMO2	63916	broad.mit.edu	37	20	45002118	45002118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:45002118C>G	ENST00000290246.6	-	16	1530	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q	ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000396391.1_Missense_Mutation_p.E446Q|ELMO2_ENST00000372176.1_Missense_Mutation_p.E358Q|ELMO2_ENST00000454865.2_Missense_Mutation_p.E178Q|ELMO2_ENST00000445496.2_Missense_Mutation_p.E263Q|ELMO2_ENST00000439931.2_Missense_Mutation_p.E458Q|ELMO2_ENST00000352077.2_Missense_Mutation_p.E444Q	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	446	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AAGAGCTCTTCAAAGGCTCGG	0.502																																						uc002xrt.1		NaN																	0				ovary(1)	1						c.(1336-1338)GAA>CAA		engulfment and cell motility 2							139.0	115.0	123.0					20																	45002118		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45002118C>G	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1336G>C	20.37:g.45002118C>G	ENSP00000290246:p.Glu446Gln					ELMO2_uc010zxq.1_Missense_Mutation_p.E178Q|ELMO2_uc002xrs.1_Missense_Mutation_p.E193Q|ELMO2_uc002xru.1_Missense_Mutation_p.E446Q|ELMO2_uc010zxr.1_Missense_Mutation_p.E458Q|ELMO2_uc010zxs.1_Missense_Mutation_p.E263Q|ELMO2_uc002xrv.1_Missense_Mutation_p.E165Q|ELMO2_uc002xrw.2_Missense_Mutation_p.E263Q	p.E446Q	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			16	1546	-		Myeloproliferative disorder(115;0.0122)	446			ELMO.		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1336G>C	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148556	0.78001	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546	T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	4.91	4.91	0.64330	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.51652	0.1687	L	0.59967	1.855	0.80722	D	1	D;P;P;P;P	0.57899	0.981;0.553;0.74;0.835;0.74	D;B;P;P;P	0.66979	0.948;0.34;0.457;0.612;0.513	T	0.51268	-0.8727	10	0.56958	D	0.05	-20.2679	17.2857	0.87141	0.0:1.0:0.0:0.0	.	458;178;446;263;446	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	Q	446;358;13;446;458;263;178;444;234	ENSP00000290246:E446Q;ENSP00000361249:E358Q;ENSP00000414329:E13Q;ENSP00000379673:E446Q;ENSP00000396519:E458Q;ENSP00000409920:E263Q;ENSP00000415641:E178Q;ENSP00000326172:E444Q;ENSP00000388962:E234Q	ENSP00000290246:E446Q	E	-	1	0	ELMO2	44435525	1.000000	0.71417	0.974000	0.42286	0.988000	0.76386	5.841000	0.69409	2.541000	0.85698	0.561000	0.74099	GAA		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1		NM_022086		39	51	0	0	0	0.004289	0	39	51		
SULF2	55959	broad.mit.edu	37	20	46313304	46313304	+	Silent	SNP	C	C	T	rs536732621		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:46313304C>T	ENST00000359930.4	-	6	1610	c.759G>A	c.(757-759)gcG>gcA	p.A253A	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.A253A|SULF2_ENST00000484875.1_Silent_p.A253A|SULF2_ENST00000467815.1_Silent_p.A253A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	253					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCGGGTTGGGCGCGTAGTTGT	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19379	0.0		0.0	False		,,,				2504	0.0					uc002xto.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(757-759)GCG>GCA		sulfatase 2 isoform a precursor							159.0	109.0	126.0					20																	46313304		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46313304C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.759G>A	20.37:g.46313304C>T						SULF2_uc002xtr.2_Silent_p.A253A|SULF2_uc002xtq.2_Silent_p.A253A	p.A253A	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			6	1089	-			253					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.759G>A	CCDS13408.1																																																																																				0.632	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1		NM_018837		8	46	0	0	0	0.00308	0	8	46		
SNAI1	6615	broad.mit.edu	37	20	48604577	48604577	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:48604577C>T	ENST00000244050.2	+	3	840	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	260	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TCCGGCTGCTCAGGATGTCCC	0.617																																						uc002xuz.2		NaN																	0				ovary(1)	1						c.(778-780)TCA>TTA		snail 1 homolog							103.0	88.0	93.0					20																	48604577		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48604577C>T	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.779C>T	20.37:g.48604577C>T	ENSP00000244050:p.Ser260Leu						p.S260L	NM_005985	NP_005976	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		3	849	+			260					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.779C>T	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.976115	0.34848	.	.	ENSG00000124216	ENST00000244050	T	0.24151	1.87	4.97	3.03	0.35002	Zinc finger, C2H2 (1);	0.184931	0.48767	D	0.000171	T	0.23926	0.0579	L	0.54965	1.715	0.36239	D	0.853125	B	0.06786	0.001	B	0.06405	0.002	T	0.14200	-1.0481	10	0.62326	D	0.03	-5.1742	9.6244	0.39741	0.0:0.8381:0.0:0.1619	.	260	O95863	SNAI1_HUMAN	L	260	ENSP00000244050:S260L	ENSP00000244050:S260L	S	+	2	0	SNAI1	48037984	0.662000	0.27439	0.097000	0.21041	0.480000	0.33159	0.712000	0.25779	0.615000	0.30124	0.462000	0.41574	TCA		0.617	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1				37	33	0	0	0	0.005524	0	37	33		
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	C	rs371494692		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr21:28296403G>C	ENST00000284987.5	-	8	2883	c.2762C>G	c.(2761-2763)gCg>gGg	p.A921G	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	921	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGCTTAAACGCAGAAGGCCT	0.483																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2761-2763)GCG>GGG		ADAM metallopeptidase with thrombospondin type 1							78.0	63.0	68.0					21																	28296403		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296403G>C	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2762C>G	21.37:g.28296403G>C	ENSP00000284987:p.Ala921Gly						p.A921G	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			8	3491	-			921			TSP type-1 2.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2762C>G	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599744	0.66332	.	.	ENSG00000154736	ENST00000284987	T	0.61274	0.12	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.39147	1.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61347	-0.7081	10	0.23891	T	0.37	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	921	Q9UNA0	ATS5_HUMAN	G	921	ENSP00000284987:A921G	ENSP00000284987:A921G	A	-	2	0	ADAMTS5	27218274	1.000000	0.71417	0.952000	0.39060	0.957000	0.61999	9.198000	0.94994	2.884000	0.98904	0.655000	0.94253	GCG		0.483	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1				15	51	0	0	0	0.004007	0	15	51		
GNB1L	54584	broad.mit.edu	37	22	19794230	19794230	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:19794230C>T	ENST00000329517.6	-	6	704	c.468G>A	c.(466-468)ccG>ccA	p.P156P	GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Silent_p.P156P|GNB1L_ENST00000403325.1_Silent_p.P156P	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	156					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CATCTGCCTTCGGCTTCAGGG	0.622																																						uc002zqe.1		NaN																	0				breast(1)	1						c.(466-468)CCG>CCA		guanine nucleotide binding protein							52.0	42.0	46.0					22																	19794230		2203	4300	6503	SO:0001819	synonymous_variant	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19794230C>T	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.468G>A	22.37:g.19794230C>T						GNB1L_uc002zqd.1_Silent_p.P12P|GNB1L_uc002zqf.1_Silent_p.P156P	p.P156P	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			5	862	-	Colorectal(54;0.0993)		156					Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	c.468G>A	CCDS13768.1																																																																																				0.622	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1				29	35	0	0	0	0.003755	0	29	35		
RSPH14	27156	broad.mit.edu	37	22	23404081	23404081	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:23404081G>A	ENST00000216036.4	-	6	892	c.696C>T	c.(694-696)gtC>gtT	p.V232V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		232										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GGATGGGGATGACGTCAAAAT	0.562																																						uc002zwt.2		NaN																	0				ovary(1)	1						c.(694-696)GTC>GTT		rhabdoid tumor deletion region protein 1							104.0	75.0	85.0					22																	23404081		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23404081G>A																												ENST00000216036.4:c.696C>T	22.37:g.23404081G>A							p.V232V	NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	6	854	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		232						Silent	SNP	ENST00000216036.4	37	c.696C>T	CCDS13803.1																																																																																				0.562	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1				40	29	0	0	0	0.007835	0	40	29		
CABIN1	23523	broad.mit.edu	37	22	24472152	24472152	+	Silent	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:24472152C>A	ENST00000398319.2	+	19	3052	c.2667C>A	c.(2665-2667)ctC>ctA	p.L889L	CABIN1_ENST00000263119.5_Silent_p.L889L|CABIN1_ENST00000405822.2_Silent_p.L839L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	889					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATCCTCCCTCATGCTGCTGA	0.587																																						uc002zzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(2665-2667)CTC>CTA		calcineurin binding protein 1							117.0	90.0	99.0					22																	24472152		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24472152C>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2667C>A	22.37:g.24472152C>A						CABIN1_uc002zzj.1_Silent_p.L839L|CABIN1_uc002zzl.1_Silent_p.L889L	p.L889L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			19	2794	+			889					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2667C>A	CCDS13823.1																																																																																				0.587	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295		26	96	1	0	6.38683e-12	0.008361	6.80336e-12	26	96		
HSCB	150274	broad.mit.edu	37	22	29153094	29153094	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:29153094G>C	ENST00000216027.3	+	6	710	c.645G>C	c.(643-645)ttG>ttC	p.L215F	HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	215					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						AGGAAATTTTGACAAAGATGA	0.323																																						uc003aea.2		NaN																	0				kidney(1)	1						c.(643-645)TTG>TTC		J-type co-chaperone HSC20 precursor							66.0	72.0	70.0					22																	29153094		2203	4300	6503	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29153094G>C	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.645G>C	22.37:g.29153094G>C	ENSP00000216027:p.Leu215Phe						p.L215F	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			6	686	+			215					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.645G>C	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144807	0.57044	.	.	ENSG00000100209	ENST00000216027	T	0.51817	0.69	5.07	1.74	0.24563	Heat shock cognate protein B, C-terminal oligomerisation (3);	0.073236	0.53938	N	0.000053	T	0.63200	0.2491	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59500	-0.7443	10	0.72032	D	0.01	-8.2034	3.2003	0.06647	0.628:0.0:0.1985:0.1735	.	215	Q8IWL3	HSC20_HUMAN	F	215	ENSP00000216027:L215F	ENSP00000216027:L215F	L	+	3	2	HSCB	27483094	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	1.312000	0.33574	0.050000	0.15949	-0.367000	0.07326	TTG		0.323	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1		NM_172002		44	98	0	0	0	0.01441	0	44	98		
APOL5	80831	broad.mit.edu	37	22	36122831	36122831	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:36122831G>A	ENST00000249044.2	+	3	716	c.716G>A	c.(715-717)gGc>gAc	p.G239D		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	239					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GCTATCCAGGGCATCAAGGAT	0.468																																						uc003aof.2		NaN																	0					0						c.(715-717)GGC>GAC		apolipoprotein L5							147.0	156.0	153.0					22																	36122831		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36122831G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.716G>A	22.37:g.36122831G>A	ENSP00000249044:p.Gly239Asp						p.G239D	NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN			3	716	+			239					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.716G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	7.491	0.650699	0.14516	.	.	ENSG00000128313	ENST00000249044	T	0.03413	3.94	3.43	1.11	0.20524	.	3.027980	0.02487	U	0.089082	T	0.02610	0.0079	N	0.10874	0.06	0.09310	N	1	P	0.38280	0.625	B	0.34652	0.187	T	0.40942	-0.9536	10	0.27082	T	0.32	.	7.2662	0.26232	0.2657:0.0:0.7343:0.0	.	239	Q9BWW9	APOL5_HUMAN	D	239	ENSP00000249044:G239D	ENSP00000249044:G239D	G	+	2	0	APOL5	34452777	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.096000	0.11059	0.509000	0.28195	0.609000	0.83330	GGC		0.468	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1		NM_030642		4	178	0	0	0	0.009096	0	4	178		
TTLL8	164714	broad.mit.edu	37	22	50471761	50471761	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr22:50471761T>G	ENST00000266182.6	-	10	1152	c.1153A>C	c.(1153-1155)Atc>Ctc	p.I385L	TTLL8_ENST00000440475.1_Missense_Mutation_p.I365L			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	401	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTGTCACAGATGAGCAGCGGC	0.562																																						uc011ark.1		NaN																	0				ovary(2)	2						c.(1153-1155)ATC>CTC		tubulin tyrosine ligase-like family, member 8							52.0	59.0	57.0					22																	50471761		2157	4270	6427	SO:0001583	missense	164714							g.chr22:50471761T>G			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1153A>C	22.37:g.50471761T>G	ENSP00000266182:p.Ile385Leu						p.I385L	NM_001080447	NP_001073916				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	10	1153	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.1153A>C		.	.	.	.	.	.	.	.	.	.	T	19.13	3.767335	0.69878	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.05717	3.4;3.4;3.4	4.44	4.44	0.53790	.	0.256118	0.35013	N	0.003516	T	0.19366	0.0465	L	0.55834	1.745	0.28944	N	0.89084	D	0.69078	0.997	D	0.85130	0.997	T	0.00862	-1.1536	10	0.62326	D	0.03	.	12.814	0.57654	0.0:0.0:0.0:1.0	.	385	B5MDV0	.	L	385;365;401	ENSP00000266182:I385L;ENSP00000387509:I365L;ENSP00000392252:I401L	ENSP00000266182:I385L	I	-	1	0	TTLL8	48813888	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.831000	0.48144	1.864000	0.54056	0.459000	0.35465	ATC		0.562	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001080447		9	5	0	0	0	0.004482	0	9	5		
HRH1	3269	broad.mit.edu	37	3	11301783	11301783	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:11301783G>A	ENST00000397056.1	+	3	1251	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	HRH1_ENST00000438284.2_Missense_Mutation_p.D354N|HRH1_ENST00000431010.2_Missense_Mutation_p.D354N	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	354					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GATGTTAGGTGATAGCCAATC	0.527																																						uc010hdr.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1060-1062)GAT>AAT		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						136.0	116.0	123.0					3																	11301783		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11301783G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.1060G>A	3.37:g.11301783G>A	ENSP00000380247:p.Asp354Asn					HRH1_uc010hds.2_Missense_Mutation_p.D354N|HRH1_uc010hdt.2_Missense_Mutation_p.D354N|HRH1_uc003bwb.3_Missense_Mutation_p.D354N	p.D354N	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	1402	+			354			Cytoplasmic (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.1060G>A	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236901	0.22711	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.67523	-0.27;-0.27;-0.27	6.08	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.153716	0.56097	D	0.000027	T	0.68044	0.2958	M	0.81942	2.565	0.20403	N	0.99991	B	0.22003	0.063	B	0.24701	0.055	T	0.57522	-0.7797	10	0.14252	T	0.57	-6.0671	15.7039	0.77563	0.0656:0.0:0.9344:0.0	.	354	P35367	HRH1_HUMAN	N	354	ENSP00000406705:D354N;ENSP00000397028:D354N;ENSP00000380247:D354N	ENSP00000380247:D354N	D	+	1	0	HRH1	11276783	0.259000	0.24043	0.013000	0.15412	0.052000	0.14988	2.293000	0.43558	1.586000	0.49944	0.655000	0.94253	GAT		0.527	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2				35	49	0	0	0	0.013726	0	35	49		
FGD5	152273	broad.mit.edu	37	3	14922086	14922086	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:14922086G>A	ENST00000285046.5	+	3	2776	c.2666G>A	c.(2665-2667)gGa>gAa	p.G889E	FGD5_ENST00000543601.1_Missense_Mutation_p.G648E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	889					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGTGGAAGGACAGTCCAGA	0.527																																						uc003bzc.2		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2665-2667)GGA>GAA		FYVE, RhoGEF and PH domain containing 5							69.0	69.0	69.0					3																	14922086		2079	4209	6288	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14922086G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2666G>A	3.37:g.14922086G>A	ENSP00000285046:p.Gly889Glu					FGD5_uc011avk.1_Missense_Mutation_p.G889E|FGD5_uc003bzd.2_5'Flank	p.G889E	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			3	2776	+			889					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.2666G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657517	0.67586	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75821	-0.97;-0.81	4.99	4.99	0.66335	Dbl homology (DH) domain (1);	0.124085	0.35739	N	0.003005	D	0.83252	0.5214	M	0.71581	2.175	0.53005	D	0.999966	D;D	0.71674	0.985;0.998	P;D	0.64321	0.793;0.924	T	0.81536	-0.0888	10	0.27785	T	0.31	-18.0812	16.0595	0.80830	0.0:0.0:1.0:0.0	.	648;889	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	E	889;648	ENSP00000285046:G889E;ENSP00000445949:G648E	ENSP00000285046:G889E	G	+	2	0	FGD5	14897090	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.978000	0.70501	2.311000	0.77944	0.313000	0.20887	GGA		0.527	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536		16	22	0	0	0	0.003163	0	16	22		
FGD5	152273	broad.mit.edu	37	3	14964612	14964612	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:14964612G>A	ENST00000285046.5	+	16	3977	c.3867G>A	c.(3865-3867)atG>atA	p.M1289I	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.M1048I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1289				M -> T (in Ref. 5; CAE45896). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGACAGGATGGCCAAGGTCT	0.607																																						uc003bzc.2		NaN																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(3865-3867)ATG>ATA		FYVE, RhoGEF and PH domain containing 5							60.0	64.0	63.0					3																	14964612		2000	4168	6168	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14964612G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3867G>A	3.37:g.14964612G>A	ENSP00000285046:p.Met1289Ile					FGD5_uc011avk.1_Missense_Mutation_p.M1289I|FGD5_uc003bzd.2_Missense_Mutation_p.M367I	p.M1289I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			16	3977	+			1289	M -> T (in Ref. 5; CAE45896).		FYVE-type.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.3867G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083296	0.55861	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.71934	-0.61;-0.61	4.79	4.79	0.61399	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.507528	0.18565	N	0.137511	T	0.48447	0.1500	N	0.08118	0	0.49130	D	0.999755	B;P	0.38223	0.367;0.623	B;B	0.38225	0.173;0.268	T	0.45454	-0.9260	10	0.21540	T;T	0.41;0.41	-29.5321	9.3081	0.37887	0.136:0.0:0.864:0.0	.	1048;1289	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	1289;1048	ENSP00000285046:M1289I;ENSP00000445949:M1048I	ENSP00000285046:M1289I;ENSP00000285046:M1289I	M	+	3	0	FGD5	14939616	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.713000	0.61895	2.200000	0.70718	0.484000	0.47621	ATG		0.607	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1		NM_152536		31	50	0	0	0	0.009535	0	31	50		
SACM1L	22908	broad.mit.edu	37	3	45773624	45773624	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:45773624G>C	ENST00000389061.5	+	13	1285	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	SACM1L_ENST00000418611.1_Missense_Mutation_p.E258Q|SACM1L_ENST00000541314.1_Missense_Mutation_p.E300Q	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	361	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TCAGGTAGCAGAAATGCAAGA	0.333																																						uc003cos.2		NaN																	0				ovary(1)	1						c.(1081-1083)GAA>CAA		suppressor of actin 1							110.0	121.0	117.0					3																	45773624		2203	4299	6502	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45773624G>C	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1081G>C	3.37:g.45773624G>C	ENSP00000373713:p.Glu361Gln					SACM1L_uc011bag.1_Missense_Mutation_p.E258Q|SACM1L_uc011bah.1_Missense_Mutation_p.E295Q|SACM1L_uc003cot.2_5'Flank	p.E361Q	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	13	1285	+			361			SAC.		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1081G>C	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887181	0.52014	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.46819	0.87;0.87;0.86;1.46	5.99	5.99	0.97316	Synaptojanin, N-terminal (1);	0.045544	0.85682	D	0.000000	T	0.47857	0.1468	L	0.54965	1.715	0.80722	D	1	B;B	0.15930	0.015;0.009	B;B	0.12156	0.007;0.004	T	0.30563	-0.9974	10	0.26408	T	0.33	-0.4762	20.4777	0.99188	0.0:0.0:1.0:0.0	.	300;361	B4DK71;Q9NTJ5	.;SAC1_HUMAN	Q	258;361;300;38	ENSP00000396387:E258Q;ENSP00000373713:E361Q;ENSP00000443373:E300Q;ENSP00000412883:E38Q	ENSP00000373713:E361Q	E	+	1	0	SACM1L	45748628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GAA		0.333	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2		NM_014016		29	63	0	0	0	0.00632	0	29	63		
TCTA	6988	broad.mit.edu	37	3	49452277	49452277	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49452277C>G	ENST00000273590.3	+	3	515	c.294C>G	c.(292-294)ctC>ctG	p.L98L	TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000265538.3_5'Flank|RHOA_ENST00000418115.1_5'Flank|RHOA_ENST00000454011.2_5'Flank|AMT_ENST00000476226.1_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	98						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACGAACCTCTCAAAACCCACA	0.522																																						uc003cwv.3		NaN																	0					0						c.(292-294)CTC>CTG		T-cell leukemia translocation altered							105.0	91.0	96.0					3																	49452277		2203	4300	6503	SO:0001819	synonymous_variant	6988					integral to membrane		g.chr3:49452277C>G		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.294C>G	3.37:g.49452277C>G						RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank	p.L98L	NM_022171	NP_071503	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	515	+			98			Extracellular (Potential).		B2R4I4|Q6I9U4|Q9BSB0	Silent	SNP	ENST00000273590.3	37	c.294C>G	CCDS2796.1																																																																																				0.522	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1		NM_022171		5	23	0	0	0	0.001984	0	5	23		
APEH	327	broad.mit.edu	37	3	49722087	49722087	+	IGR	SNP	G	G	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:49722087G>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.S591Y	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGTCACAGATCTTTAGCA	0.602																																						uc003cxg.2		NaN																	0				lung(1)	1						c.(1771-1773)TCT>TAT		macrophage stimulating 1 (hepatocyte growth							48.0	51.0	50.0					3																	49722087		2203	4299	6502	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49722087G>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49722087G>T							p.S591Y	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	16	1844	-			577			Peptidase S1.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1772C>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161789	0.57368	.	.	ENSG00000173531	ENST00000449682	D	0.93366	-3.21	5.46	5.46	0.80206	.	0.363761	0.19898	N	0.103580	D	0.89955	0.6865	L	0.45051	1.395	0.80722	D	1	P	0.43788	0.817	B	0.35278	0.199	D	0.91445	0.5177	10	0.87932	D	0	.	17.0592	0.86542	0.0:0.0:1.0:0.0	.	591	G3XAK1	.	Y	591	ENSP00000414287:S591Y	ENSP00000414287:S591Y	S	-	2	0	MST1	49697091	1.000000	0.71417	0.162000	0.22713	0.991000	0.79684	6.598000	0.74122	2.551000	0.86045	0.561000	0.74099	TCT		0.602	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2				15	53	1	0	2.32078e-09	0.003163	2.44556e-09	15	53		
CACNA2D2	9254	broad.mit.edu	37	3	50403560	50403560	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:50403560A>G	ENST00000479441.1	-	33	2764	c.2765T>C	c.(2764-2766)cTg>cCg	p.L922P	XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.L915P|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.L915P|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.L923P|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.L922P|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.L915P|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.L846P|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.L916P			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	922					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGCCAGCATCAGGTTGGCATC	0.567																																						uc003daq.2		NaN																	0				lung(1)	1						c.(2764-2766)CTG>CCG		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						148.0	138.0	141.0					3																	50403560		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50403560A>G	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2765T>C	3.37:g.50403560A>G	ENSP00000418081:p.Leu922Pro					CACNA2D2_uc003dap.2_Missense_Mutation_p.L915P|CACNA2D2_uc003dao.2_5'Flank	p.L922P	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	33	2803	-			922			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2765T>C	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928789	0.73327	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	4.97	4.97	0.65823	.	0.182516	0.36893	N	0.002350	D	0.90058	0.6895	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	D	0.91161	0.4961	10	0.87932	D	0	-10.8695	12.917	0.58211	1.0:0.0:0.0:0.0	.	922;915	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	P	923;916;915;846;922;915;915;922	ENSP00000407393:L923P;ENSP00000404631:L916P;ENSP00000266039:L915P;ENSP00000354228:L846P;ENSP00000390526:L922P;ENSP00000378519:L915P;ENSP00000390329:L915P;ENSP00000418081:L922P	ENSP00000266039:L915P	L	-	2	0	CACNA2D2	50378564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.792000	0.91856	1.865000	0.54081	0.459000	0.35465	CTG		0.567	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1		NM_006030		3	92	0	0	0	0.004672	0	3	92		
STAB1	23166	broad.mit.edu	37	3	52547747	52547747	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:52547747G>C	ENST00000321725.6	+	31	3361	c.3285G>C	c.(3283-3285)caG>caC	p.Q1095H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1095	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTGGGTGCAGAATGCCAGCG	0.597																																						uc003dej.2		NaN																	0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(3283-3285)CAG>CAC		stabilin 1 precursor							91.0	76.0	81.0					3																	52547747		2202	4300	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52547747G>C	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3285G>C	3.37:g.52547747G>C	ENSP00000312946:p.Gln1095His						p.Q1095H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	31	3359	+			1095			FAS1 3.|Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.3285G>C	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780774	0.70222	.	.	ENSG00000010327	ENST00000321725	D	0.91521	-2.86	5.4	3.6	0.41247	FAS1 domain (5);	0.149852	0.46442	D	0.000288	D	0.93442	0.7908	M	0.65975	2.015	0.36445	D	0.865754	D	0.89917	1.0	D	0.75484	0.986	D	0.94275	0.7514	10	0.51188	T	0.08	-22.4582	10.3448	0.43899	0.1563:0.0:0.8437:0.0	.	1095	Q9NY15	STAB1_HUMAN	H	1095	ENSP00000312946:Q1095H	ENSP00000312946:Q1095H	Q	+	3	2	STAB1	52522787	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.068000	0.30629	1.290000	0.44636	0.563000	0.77884	CAG		0.597	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2		NM_015136		6	17	0	0	0	0.001168	0	6	17		
NT5DC2	64943	broad.mit.edu	37	3	52558714	52558714	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:52558714G>A	ENST00000307076.4	-	14	1735	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	NT5DC2_ENST00000307092.4_Silent_p.F386F|NT5DC2_ENST00000422318.2_Silent_p.F482F|NT5DC2_ENST00000459839.1_Silent_p.F457F	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	445							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGATGCTGCCGAACTGCGCAT	0.627																																						uc003deo.2		NaN																	0					0						c.(1333-1335)TTC>TTT		5'-nucleotidase domain containing 2 isoform 2							74.0	67.0	69.0					3																	52558714		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52558714G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.1335C>T	3.37:g.52558714G>A						NT5DC2_uc003dem.2_Silent_p.F315F|NT5DC2_uc003den.2_Silent_p.F482F|NT5DC2_uc010hmi.2_Silent_p.F457F|NT5DC2_uc010hmj.2_Silent_p.F261F	p.F445F	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	14	1759	-			445					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.1335C>T	CCDS2858.1																																																																																				0.627	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1		NM_022908		15	38	0	0	0	0.003163	0	15	38		
CGGBP1	8545	broad.mit.edu	37	3	88104763	88104763	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:88104763C>T	ENST00000398392.2	-	1	1696	c.364G>A	c.(364-366)Gat>Aat	p.D122N	CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000309534.6_Missense_Mutation_p.D122N|CGGBP1_ENST00000482016.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000462901.1_Missense_Mutation_p.D122N			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	122					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GCTGGGTGATCAGCCTTCTCA	0.488																																						uc003dqs.2		NaN																	0					0						c.(364-366)GAT>AAT		CGG triplet repeat binding protein 1							114.0	114.0	114.0					3																	88104763		2008	4178	6186	SO:0001583	missense	8545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	g.chr3:88104763C>T	AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.364G>A	3.37:g.88104763C>T	ENSP00000381429:p.Asp122Asn					CGGBP1_uc003dqt.2_Missense_Mutation_p.D122N|CGGBP1_uc003dqu.2_Missense_Mutation_p.D122N	p.D122N	NM_001008390	NP_001008391	Q9UFW8	CGBP1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)	4	876	-		Lung NSC(201;0.0283)	122					D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	c.364G>A	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341051	0.81911	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.86	5.86	0.93980	.	0.000000	0.40064	U	0.001181	T	0.65004	0.2650	L	0.29908	0.895	0.43517	D	0.995786	D	0.60575	0.988	P	0.62885	0.908	T	0.65290	-0.6204	9	0.54805	T	0.06	-21.6335	17.392	0.87434	0.0:1.0:0.0:0.0	.	122	Q9UFW8	CGBP1_HUMAN	N	122	.	ENSP00000381428:D122N	D	-	1	0	CGGBP1	88187453	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.914000	0.63348	2.787000	0.95880	0.650000	0.86243	GAT		0.488	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1		NM_001008390		22	54	0	0	0	0.010504	0	22	54		
KIAA1524	57650	broad.mit.edu	37	3	108271090	108271090	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:108271090C>G	ENST00000295746.8	-	20	2614	c.2538G>C	c.(2536-2538)ttG>ttC	p.L846F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L687F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	846					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L846F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTAATGCTCAACTCTTTTC	0.313																																						uc003dxb.3		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2536-2538)TTG>TTC		p90 autoantigen							199.0	184.0	189.0					3																	108271090		2201	4296	6497	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108271090C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2538G>C	3.37:g.108271090C>G	ENSP00000295746:p.Leu846Phe						p.L846F	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			20	2807	-			846			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2538G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757138	0.49468	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.19105	2.17;2.17	4.85	1.41	0.22369	.	0.301067	0.31660	N	0.007262	T	0.31544	0.0800	L	0.57536	1.79	0.35918	D	0.831571	D	0.76494	0.999	D	0.71656	0.974	T	0.32322	-0.9911	10	0.41790	T	0.15	0.001	2.7728	0.05339	0.1322:0.5021:0.13:0.2357	.	846	Q8TCG1	CIP2A_HUMAN	F	687;846	ENSP00000419487:L687F;ENSP00000295746:L846F	ENSP00000295746:L846F	L	-	3	2	KIAA1524	109753780	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	1.356000	0.34079	0.417000	0.25871	0.557000	0.71058	TTG		0.313	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2		NM_020890		12	26	0	0	0	0.013537	0	12	26		
BOC	91653	broad.mit.edu	37	3	112998700	112998700	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:112998700C>G	ENST00000495514.1	+	13	2754	c.2050C>G	c.(2050-2052)Ctg>Gtg	p.L684V	BOC_ENST00000355385.3_Missense_Mutation_p.L684V|BOC_ENST00000273395.4_Missense_Mutation_p.L685V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	684	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGTCCGGGCTCTGAACATGCT	0.612																																						uc003dzx.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(2050-2052)CTG>GTG		brother of CDO precursor							71.0	79.0	76.0					3																	112998700		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998700C>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2050C>G	3.37:g.112998700C>G	ENSP00000418663:p.Leu684Val					BOC_uc003dzy.2_Missense_Mutation_p.L684V|BOC_uc003dzz.2_Missense_Mutation_p.L685V|BOC_uc003eab.2_Missense_Mutation_p.L385V|BOC_uc003eac.2_5'UTR	p.L684V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		13	2671	+			684			Fibronectin type-III 2.|Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.2050C>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202469	0.22121	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.50813	0.73;0.73;0.73	5.53	1.39	0.22231	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.234953	0.36778	N	0.002401	T	0.12008	0.0292	N	0.00335	-1.625	0.37914	D	0.931478	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.05750	-1.0866	10	0.19147	T	0.46	.	6.5341	0.22344	0.1255:0.6603:0.0:0.2142	.	685;684	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	V	684;685;684	ENSP00000418663:L684V;ENSP00000273395:L685V;ENSP00000347546:L684V	ENSP00000273395:L685V	L	+	1	2	BOC	114481390	0.908000	0.30866	0.998000	0.56505	0.908000	0.53690	1.568000	0.36418	0.680000	0.31366	-0.244000	0.11960	CTG		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254		55	118	0	0	0	0.01441	0	55	118		
PLXND1	23129	broad.mit.edu	37	3	129289674	129289674	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:129289674C>T	ENST00000324093.4	-	19	3883	c.3705G>A	c.(3703-3705)tcG>tcA	p.S1235S	PLXND1_ENST00000393239.1_Silent_p.S1235S	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1235					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCGTTGACCGAGCAGTGGA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NaN																	0				large_intestine(1)	1						c.(3703-3705)TCG>TCA		plexin D1 precursor							188.0	198.0	194.0					3																	129289674		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289674C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3705G>A	3.37:g.129289674C>T							p.S1235S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			19	3805	-			1235			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3705G>A	CCDS33854.1																																																																																				0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		NM_015103		115	159	0	0	0	0.01441	0	115	159		
CEP70	80321	broad.mit.edu	37	3	138219388	138219388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:138219388G>A	ENST00000264982.3	-	15	1656	c.1390C>T	c.(1390-1392)Caa>Taa	p.Q464*	CEP70_ENST00000484888.1_Nonsense_Mutation_p.Q464*|CEP70_ENST00000542237.1_Nonsense_Mutation_p.Q444*|CEP70_ENST00000489254.1_Nonsense_Mutation_p.Q312*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.Q464*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	464					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TGCAAAGTTTGAAAGTGTGGC	0.323																																						uc003esl.2		NaN																	0				skin(1)	1						c.(1390-1392)CAA>TAA		centrosomal protein 70 kDa							179.0	209.0	199.0					3																	138219388		2202	4300	6502	SO:0001587	stop_gained	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138219388G>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1390C>T	3.37:g.138219388G>A	ENSP00000264982:p.Gln464*					CEP70_uc011bmk.1_Nonsense_Mutation_p.Q444*|CEP70_uc011bml.1_Nonsense_Mutation_p.Q446*|CEP70_uc011bmm.1_Nonsense_Mutation_p.Q312*|CEP70_uc003esm.2_Nonsense_Mutation_p.Q464*	p.Q464*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN			15	1588	-			464					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Nonsense_Mutation	SNP	ENST00000264982.3	37	c.1390C>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813087	0.70912	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	.	.	.	4.76	0.465	0.16711	.	0.615588	0.17452	N	0.173749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.7816	6.8282	0.23895	0.0:0.3278:0.3405:0.3316	.	.	.	.	X	464;444;312;464;446;464	.	ENSP00000264982:Q464X	Q	-	1	0	CEP70	139702078	0.998000	0.40836	0.984000	0.44739	0.283000	0.27025	0.814000	0.27239	0.184000	0.20083	-0.176000	0.13171	CAA		0.323	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1		NM_024491		116	255	0	0	0	0.01441	0	116	255		
RBP1	5947	broad.mit.edu	37	3	139258320	139258320	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:139258320C>T	ENST00000483943.2	-	1	241	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RBP1_ENST00000232219.2_Missense_Mutation_p.E81K|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.E81K	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	19					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)	CGCAGGTACTCCTCGAAATTC	0.677																																						uc003eti.2		NaN																	0					0						c.(241-243)GAG>AAG		retinol binding protein 1, cellular isoform a	Vitamin A(DB00162)						40.0	29.0	32.0					3																	139258320		2203	4300	6503	SO:0001583	missense	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139258320C>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	ENST00000483943.2:c.241G>A	3.37:g.139258320C>T	ENSP00000424813:p.Glu81Lys					RBP1_uc011bmx.1_Missense_Mutation_p.E81K|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.E81K	p.E81K	NM_002899	NP_002890	P09455	RET1_HUMAN			1	352	-			19					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	c.241G>A	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704230	0.96812	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.26518	1.73;1.73;1.73	5.28	5.28	0.74379	Calycin-like (1);Cytosolic fatty-acid binding (2);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.063235	0.64402	D	0.000011	T	0.47655	0.1457	L	0.58810	1.83	0.80722	D	1	P;D;B	0.67145	0.89;0.996;0.354	P;D;B	0.66716	0.707;0.946;0.208	T	0.40194	-0.9576	10	0.52906	T	0.07	.	17.9012	0.88904	0.0:1.0:0.0:0.0	.	81;81;19	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	K	81	ENSP00000232219:E81K;ENSP00000424813:E81K;ENSP00000429166:E81K	ENSP00000232219:E81K	E	-	1	0	RBP1	140741010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.526000	0.73799	2.470000	0.83445	0.655000	0.94253	GAG		0.677	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2		NM_002899		11	8	0	0	0	0.013537	0	11	8		
TNIK	23043	broad.mit.edu	37	3	170945999	170945999	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:170945999G>C	ENST00000436636.2	-	3	479	c.135C>G	c.(133-135)gtC>gtG	p.V45V	TNIK_ENST00000460047.1_Silent_p.V45V|TNIK_ENST00000488470.1_Silent_p.V45V|TNIK_ENST00000284483.8_Silent_p.V45V|TNIK_ENST00000475336.1_Silent_p.V45V|TNIK_ENST00000369326.5_Silent_p.V45V|TNIK_ENST00000341852.6_Silent_p.V45V|TNIK_ENST00000357327.5_Silent_p.V45V|TNIK_ENST00000470834.1_Silent_p.V45V|TNIK_ENST00000538048.1_Silent_p.V45V	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGCCCGTTTTGACATGACGAC	0.383																																						uc003fhh.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(133-135)GTC>GTG		TRAF2 and NCK interacting kinase isoform 1							110.0	108.0	109.0					3																	170945999		1908	4113	6021	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170945999G>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.135C>G	3.37:g.170945999G>C						TNIK_uc003fhi.2_Silent_p.V45V|TNIK_uc003fhj.2_Silent_p.V45V|TNIK_uc003fhk.2_Silent_p.V45V|TNIK_uc003fhl.2_Silent_p.V45V|TNIK_uc003fhm.2_Silent_p.V45V|TNIK_uc003fhn.2_Silent_p.V45V|TNIK_uc003fho.2_Silent_p.V45V	p.V45V	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		3	480	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		45			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.135C>G	CCDS46956.1																																																																																				0.383	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2		XM_039796		81	42	0	0	0	0.01441	0	81	42		
MCF2L2	23101	broad.mit.edu	37	3	183014889	183014889	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:183014889G>C	ENST00000328913.3	-	12	1669	c.1372C>G	c.(1372-1374)Cga>Gga	p.R458G	B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R458G|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R458G|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R458G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	458							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCCCTTCTCGAGACTGGCAC	0.517																																						uc003fli.1		NaN																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(1372-1374)CGA>GGA		Rho family guanine-nucleotide exchange factor							136.0	117.0	123.0					3																	183014889		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183014889G>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1372C>G	3.37:g.183014889G>C	ENSP00000328118:p.Arg458Gly					MCF2L2_uc003flj.1_Missense_Mutation_p.R458G|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank	p.R458G	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		12	1462	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		458					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1372C>G	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611410	0.87258	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	4.9	4.9	0.64082	.	0.142257	0.47455	D	0.000221	T	0.35451	0.0932	L	0.51422	1.61	0.80722	D	1	D;D	0.58620	0.971;0.983	P;P	0.54238	0.62;0.746	T	0.09840	-1.0656	10	0.72032	D	0.01	.	18.2836	0.90107	0.0:0.0:1.0:0.0	.	458;458	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	G	458	ENSP00000328118:R458G;ENSP00000420070:R458G;ENSP00000388190:R458G;ENSP00000414131:R458G	ENSP00000328118:R458G	R	-	1	2	MCF2L2	184497583	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	8.918000	0.92759	2.537000	0.85549	0.655000	0.94253	CGA		0.517	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078		8	90	0	0	0	0.006214	0	8	90		
EIF2B5	8893	broad.mit.edu	37	3	183858320	183858320	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:183858320C>T	ENST00000273783.3	+	7	1080	c.958C>T	c.(958-960)Cct>Tct	p.P320S	EIF2B5_ENST00000444495.1_Missense_Mutation_p.P320S	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	320					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGGTCTACCCTCTCACCCC	0.577																																						uc003fmp.2		NaN																	0				ovary(5)	5						c.(958-960)CCT>TCT		eukaryotic translation initiation factor 2B,							223.0	209.0	214.0					3																	183858320		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183858320C>T	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.958C>T	3.37:g.183858320C>T	ENSP00000273783:p.Pro320Ser					EIF2B5_uc003fmq.2_Missense_Mutation_p.P41S|EIF2B5_uc003fmr.2_5'Flank	p.P320S	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1322	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		320					Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.958C>T	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	c	36	5.712263	0.96830	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.94497	-3.44;-3.44	5.8	5.8	0.92144	Trimeric LpxA-like (1);	0.000000	0.85682	D	0.000000	D	0.98058	0.9360	M	0.93978	3.48	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.68621	0.959;0.922	D	0.98468	1.0599	10	0.72032	D	0.01	.	20.0563	0.97651	0.0:1.0:0.0:0.0	.	320;320	E9PC74;Q13144	.;EI2BE_HUMAN	S	320;320;76	ENSP00000273783:P320S;ENSP00000409142:P320S	ENSP00000273783:P320S	P	+	1	0	EIF2B5	185341014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.746000	0.94184	0.563000	0.77884	CCT		0.577	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1				93	129	0	0	0	0.01441	0	93	129		
LSG1	55341	broad.mit.edu	37	3	194392818	194392818	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr3:194392818C>T	ENST00000265245.5	-	1	388	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	25					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACGATGGCTTCGGCTCCGCTG	0.582																																						uc003fui.2		NaN																	0					0						c.(73-75)CGA>CAA		large subunit GTPase 1							61.0	58.0	59.0					3																	194392818		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194392818C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.74G>A	3.37:g.194392818C>T	ENSP00000265245:p.Arg25Gln						p.R25Q	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	1	389	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		25					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.74G>A	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041387	0.55003	.	.	ENSG00000041802	ENST00000265245	T	0.41065	1.01	4.29	2.49	0.30216	.	0.223998	0.46145	D	0.000314	T	0.30386	0.0763	L	0.39898	1.24	0.40708	D	0.982546	P	0.52316	0.952	B	0.41510	0.359	T	0.08911	-1.0699	10	0.56958	D	0.05	.	6.8285	0.23897	0.0:0.7902:0.0:0.2098	.	25	Q9H089	LSG1_HUMAN	Q	25	ENSP00000265245:R25Q	ENSP00000265245:R25Q	R	-	2	0	LSG1	195874107	0.751000	0.28327	0.714000	0.30535	0.692000	0.40212	0.919000	0.28692	0.743000	0.32719	-0.150000	0.13652	CGA		0.582	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1		NM_018385		27	47	0	0	0	0.007291	0	27	47		
PACRGL	133015	broad.mit.edu	37	4	20715142	20715142	+	Silent	SNP	C	C	T	rs139070230	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:20715142C>T	ENST00000503585.1	+	7	980	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	PACRGL_ENST00000513459.1_Silent_p.L144L|PACRGL_ENST00000295290.8_Silent_p.L197L|PACRGL_ENST00000444671.2_Silent_p.L99L|PACRGL_ENST00000507634.1_Silent_p.L197L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Silent_p.L99L|PACRGL_ENST00000502374.1_Silent_p.L144L|PACRGL_ENST00000360916.5_Silent_p.L197L	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	197										endometrium(2)|lung(7)|prostate(1)	10						AAACGACCATCTGAAGCATCT	0.388																																						uc010iek.2		NaN																	0					0						c.(589-591)CTG>TTG		PARK2 co-regulated-like isoform 1							217.0	173.0	188.0					4																	20715142		2203	4300	6503	SO:0001819	synonymous_variant	133015						binding	g.chr4:20715142C>T	AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.589C>T	4.37:g.20715142C>T						PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Silent_p.L245L|PACRGL_uc003gpz.2_Silent_p.L197L|PACRGL_uc011bxm.1_Silent_p.L144L|PACRGL_uc003gqa.2_Silent_p.L99L|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Silent_p.L197L|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Silent_p.L99L|PACRGL_uc003gpy.2_Silent_p.L144L	p.L197L	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN			7	980	+			197					B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Silent	SNP	ENST00000503585.1	37	c.589C>T	CCDS58895.1																																																																																				0.388	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360321.2		NM_145048		21	39	0	0	0	0.008871	0	21	39		
SEPSECS	51091	broad.mit.edu	37	4	25160685	25160685	+	Silent	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:25160685G>C	ENST00000382103.2	-	2	231	c.159C>G	c.(157-159)ctC>ctG	p.L53L	SEPSECS_ENST00000302922.3_Intron|PI4K2B_ENST00000512921.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	53					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				CATGTAAAAAGAGTTCAAGTG	0.393																																						uc003grg.2		NaN																	0					0						c.(157-159)CTC>CTG		Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	Pyridoxal Phosphate(DB00114)						151.0	140.0	144.0					4																	25160685		1884	4113	5997	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25160685G>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.159C>G	4.37:g.25160685G>C						uc003grj.2_5'Flank|PI4K2B_uc011bxs.1_5'Flank|SEPSECS_uc003gri.2_Silent_p.L52L|SEPSECS_uc003grh.2_Intron	p.L53L	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN			2	372	-		Breast(46;0.173)	53					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.159C>G	CCDS3432.2																																																																																				0.393	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2		NM_016955		27	64	0	0	0	0.007291	0	27	64		
FRAS1	80144	broad.mit.edu	37	4	79360104	79360104	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:79360104C>G	ENST00000325942.6	+	40	5855	c.5415C>G	c.(5413-5415)ttC>ttG	p.F1805L	FRAS1_ENST00000264895.6_Missense_Mutation_p.F1805L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1805					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTGATAGCTTCTATTTCTCTG	0.388																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(5413-5415)TTC>TTG		Fraser syndrome 1							180.0	181.0	181.0					4																	79360104		1903	4113	6016	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79360104C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5415C>G	4.37:g.79360104C>G	ENSP00000326330:p.Phe1805Leu					FRAS1_uc003hkw.2_Missense_Mutation_p.F1805L|FRAS1_uc010ijj.1_Missense_Mutation_p.F225L	p.F1805L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			40	5855	+			1804			CSPG 6.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5415C>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444943|3.444943	0.63178|0.63178	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316|ENST00000510944;ENST00000512123	T;T|.	0.38401|.	1.14;1.14|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72906|0.72906	0.3519|0.3519	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.992;1.0|.	P;D|.	0.83275|.	0.8;0.996|.	T|T	0.71020|0.71020	-0.4713|-0.4713	10|5	0.48119|.	T|.	0.1|.	.|.	15.4518|15.4518	0.75279|0.75279	0.0:0.932:0.0:0.068|0.0:0.932:0.0:0.068	.|.	1805;1805|.	E9PHH6;A2RRR8|.	.;.|.	L|V	1805;1805;225|255;34	ENSP00000326330:F1805L;ENSP00000264895:F1805L|.	ENSP00000264895:F1805L|.	F|L	+|+	3|1	2|2	FRAS1|FRAS1	79579128|79579128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.075000|5.075000	0.64407|0.64407	2.814000|2.814000	0.96858|0.96858	0.585000|0.585000	0.79938|0.79938	TTC|CTA		0.388	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2				23	91	0	0	0	0.00278	0	23	91		
PPP3CA	5530	broad.mit.edu	37	4	101984485	101984485	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:101984485T>C	ENST00000394854.3	-	9	1668	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	PPP3CA_ENST00000507176.1_Missense_Mutation_p.M231V|PPP3CA_ENST00000512215.1_Missense_Mutation_p.M97V|PPP3CA_ENST00000394853.4_Missense_Mutation_p.M329V|PPP3CA_ENST00000523694.2_Missense_Mutation_p.M262V|PPP3CA_ENST00000323055.6_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	329					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTGATATTCATAACATTGTTC	0.363																																						uc011cen.1		NaN																	0				ovary(1)|skin(1)	2						c.(985-987)ATG>GTG		protein phosphatase 3, catalytic subunit, alpha							106.0	96.0	99.0					4																	101984485		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101984485T>C		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.985A>G	4.37:g.101984485T>C	ENSP00000378323:p.Met329Val					PPP3CA_uc003hvu.2_Missense_Mutation_p.M329V|PPP3CA_uc010ilj.2_Intron|PPP3CA_uc003hvt.2_Missense_Mutation_p.M316V|PPP3CA_uc003hvs.2_Missense_Mutation_p.M262V|PPP3CA_uc010ilk.2_Missense_Mutation_p.M97V	p.M329V	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	9	1660	-			329					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.985A>G	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357900	0.82243	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.5	5.5	0.81552	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.173373	0.64402	D	0.000015	T	0.18841	0.0452	L	0.60957	1.885	0.80722	D	1	P;D;B;D;D	0.89917	0.533;1.0;0.037;0.997;0.973	B;D;B;P;P	0.91635	0.31;0.999;0.148;0.812;0.453	T	0.00141	-1.1999	10	0.87932	D	0	-19.2285	15.6013	0.76628	0.0:0.0:0.0:1.0	.	329;97;329;231;262	Q08209;A8W6Z8;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	V	97;329;329;231;262	ENSP00000422781:M97V;ENSP00000378323:M329V;ENSP00000378322:M329V;ENSP00000422990:M231V;ENSP00000429350:M262V	ENSP00000378322:M329V	M	-	1	0	PPP3CA	102203508	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.751000	0.85126	2.096000	0.63516	0.533000	0.62120	ATG		0.363	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2		NM_000944		10	10	0	0	0	0.006214	0	10	10		
FAT4	79633	broad.mit.edu	37	4	126241535	126241535	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:126241535T>A	ENST00000394329.3	+	1	3982	c.3969T>A	c.(3967-3969)gaT>gaA	p.D1323E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1323	Cadherin 13. {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						TCTTTGTTGATGTTTTGGAAA	0.368																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(3967-3969)GAT>GAA		FAT tumor suppressor homolog 4 precursor							128.0	121.0	123.0					4																	126241535		1878	4102	5980	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241535T>A	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.3969T>A	4.37:g.126241535T>A	ENSP00000377862:p.Asp1323Glu						p.D1323E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	3969	+			1323			Cadherin 13.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.3969T>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	13.07	2.126439	0.37533	.	.	ENSG00000196159	ENST00000394329	T	0.01705	4.68	4.83	1.14	0.20703	Cadherin (3);Cadherin-like (1);	0.000000	0.35378	U	0.003259	T	0.01870	0.0059	N	0.04260	-0.245	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.57306	-0.7834	10	0.05620	T	0.96	.	8.3219	0.32134	0.0:0.2281:0.0:0.7719	.	1323	Q6V0I7	FAT4_HUMAN	E	1323	ENSP00000377862:D1323E	ENSP00000377862:D1323E	D	+	3	2	FAT4	126460985	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	2.267000	0.43329	0.065000	0.16485	0.533000	0.62120	GAT		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		19	41	0	0	0	0.007413	0	19	41		
PCDH10	57575	broad.mit.edu	37	4	134072451	134072451	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:134072451G>C	ENST00000264360.5	+	1	1982	c.1156G>C	c.(1156-1158)Gac>Cac	p.D386H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GACTGACCGCGACTCAGAGGA	0.587																																						uc003iha.2		NaN																	0				ovary(2)	2						c.(1156-1158)GAC>CAC		protocadherin 10 isoform 1 precursor							101.0	101.0	101.0					4																	134072451		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072451G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1156G>C	4.37:g.134072451G>C	ENSP00000264360:p.Asp386His					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D386H	p.D386H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1982	+			386			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1156G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884333	0.72410	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.74632	-0.86	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.47455	D	0.000226	D	0.92573	0.7641	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95947	0.8951	10	0.87932	D	0	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	386;386	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	386	ENSP00000264360:D386H	ENSP00000264360:D386H	D	+	1	0	PCDH10	134291901	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.423000	0.82170	0.561000	0.74099	GAC		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		29	70	0	0	0	0.00632	0	29	70		
MAML3	55534	broad.mit.edu	37	4	140651796	140651796	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:140651796C>T	ENST00000509479.2	-	3	2961	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCCTGTGGTTCGGGGAAGTCC	0.632																																						uc003ihz.1		NaN																	0				ovary(1)	1						c.(2092-2094)CGA>CAA		mastermind-like 3							29.0	33.0	32.0					4																	140651796		2018	4172	6190	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140651796C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2105G>A	4.37:g.140651796C>T	ENSP00000421180:p.Arg702Gln					MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.R165Q	p.R698Q	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			4	2845	-	all_hematologic(180;0.162)		698			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2093G>A	CCDS54805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.825299|4.825299	0.90955|0.90955	.|.	.|.	ENSG00000196782|ENSG00000196782	ENST00000502696|ENST00000509479;ENST00000538400	.|T	.|0.25749	.|1.78	5.74|5.74	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.40498|0.40498	0.1119|0.1119	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.72625	.|0.978;0.978	T|T	0.10177|0.10177	-1.0641|-1.0641	5|10	.|0.19590	.|T	.|0.45	.|.	14.8217|14.8217	0.70077|0.70077	0.0:0.931:0.0:0.069|0.0:0.931:0.0:0.069	.|.	.|702;698	.|E7EVW8;Q96JK9	.|.;MAML3_HUMAN	K|Q	46|702;9	.|ENSP00000421180:R702Q	.|ENSP00000421180:R702Q	E|R	-|-	1|2	0|0	MAML3|MAML3	140871246|140871246	1.000000|1.000000	0.71417|0.71417	0.716000|0.716000	0.30569|0.30569	0.985000|0.985000	0.73830|0.73830	4.595000|4.595000	0.61048|0.61048	1.415000|1.415000	0.47037|0.47037	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.632	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2				4	12	0	0	0	0.000602	0	4	12		
RAPGEF2	9693	broad.mit.edu	37	4	160244690	160244690	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:160244690G>A	ENST00000264431.4	+	5	1006	c.587G>A	c.(586-588)gGa>gAa	p.G196E		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	196					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGTGCATGGGAAATAGTTTT	0.383																																						uc003iqg.3		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(586-588)GGA>GAA		Rap guanine nucleotide exchange factor 2							104.0	97.0	99.0					4																	160244690		1873	4124	5997	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160244690G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.587G>A	4.37:g.160244690G>A	ENSP00000264431:p.Gly196Glu						p.G196E	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	5	897	+	all_hematologic(180;0.24)		196			cNMP.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.587G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244847	0.95272	.	.	ENSG00000109756	ENST00000264431	D	0.96940	-4.18	5.57	5.57	0.84162	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99204	1.0874	9	.	.	.	.	19.537	0.95256	0.0:0.0:1.0:0.0	.	196	Q9Y4G8	RPGF2_HUMAN	E	196	ENSP00000264431:G196E	.	G	+	2	0	RAPGEF2	160464140	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.813000	0.99286	2.615000	0.88500	0.467000	0.42956	GGA		0.383	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247		12	30	0	0	0	0.013537	0	12	30		
CCT5	22948	broad.mit.edu	37	5	10254942	10254942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:10254942G>A	ENST00000280326.4	+	3	743	c.323G>A	c.(322-324)gGa>gAa	p.G108E	CCT5_ENST00000515676.1_Missense_Mutation_p.G70E|CCT5_ENST00000503026.1_Missense_Mutation_p.G87E|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	108					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GGAACCACAGGAGTGGTTGGT	0.433																																						uc003jeq.2		NaN																	0				ovary(2)	2						c.(322-324)GGA>GAA		chaperonin containing TCP1, subunit 5 (epsilon)							122.0	108.0	113.0					5																	10254942		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10254942G>A	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.323G>A	5.37:g.10254942G>A	ENSP00000280326:p.Gly108Glu					CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.G108E|CCT5_uc010its.2_Missense_Mutation_p.G108E|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.G70E|CCT5_uc011cmt.1_Intron	p.G108E	NM_012073	NP_036205	P48643	TCPE_HUMAN			3	494	+			108					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.323G>A	CCDS3877.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165580	0.94768	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000440011;ENST00000515676	T;T;T	0.78126	-1.15;-1.15;-1.15	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	H	0.97214	3.96	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.992	D	0.94937	0.8088	10	0.87932	D	0	-24.5772	18.4639	0.90748	0.0:0.0:1.0:0.0	.	106;108;108	Q9BU08;A8K2X8;P48643	.;.;TCPE_HUMAN	E	108;87;81;70	ENSP00000280326:G108E;ENSP00000423318:G87E;ENSP00000427297:G70E	ENSP00000280326:G108E	G	+	2	0	CCT5	10307942	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	9.288000	0.96055	2.656000	0.90262	0.644000	0.83932	GGA		0.433	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2				31	29	0	0	0	0.010818	0	31	29		
TRIO	7204	broad.mit.edu	37	5	14497101	14497101	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:14497101G>A	ENST00000344204.4	+	50	8018	c.7994G>A	c.(7993-7995)gGa>gAa	p.G2665E	TRIO_ENST00000344135.5_Missense_Mutation_p.G164E|TRIO_ENST00000537187.1_Missense_Mutation_p.G2489E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2665					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCACGGGAAGGACTCAGCAAC	0.493																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(7993-7995)GGA>GAA		triple functional domain (PTPRF interacting)							133.0	113.0	120.0					5																	14497101		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14497101G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7994G>A	5.37:g.14497101G>A	ENSP00000339299:p.Gly2665Glu					TRIO_uc003jfg.2_RNA	p.G2665E	NM_007118	NP_009049	O75962	TRIO_HUMAN			50	8000	+	Lung NSC(4;0.000742)		2665					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7994G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634876	0.87760	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.64991	-0.09;-0.09;-0.13	5.27	5.27	0.74061	.	0.114296	0.64402	D	0.000013	T	0.74741	0.3756	L	0.54323	1.7	0.33250	D	0.558343	D	0.76494	0.999	D	0.68765	0.96	T	0.80484	-0.1362	10	0.49607	T	0.09	.	17.1098	0.86672	0.0:0.0:1.0:0.0	.	2665	O75962	TRIO_HUMAN	E	2665;2489;2352;164	ENSP00000339299:G2665E;ENSP00000446348:G2489E;ENSP00000339291:G164E	ENSP00000339291:G164E	G	+	2	0	TRIO	14550101	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.467000	0.80930	2.461000	0.83175	0.655000	0.94253	GGA		0.493	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		11	45	0	0	0	0.008291	0	11	45		
CDH6	1004	broad.mit.edu	37	5	31317518	31317518	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:31317518C>G	ENST00000265071.2	+	10	1814	c.1549C>G	c.(1549-1551)Cct>Gct	p.P517A	CDH6_ENST00000514738.1_Missense_Mutation_p.P462A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	517	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAAGGATGACCCTTATAGTGG	0.398																																						uc003jhe.1		NaN																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(1549-1551)CCT>GCT		cadherin 6, type 2 preproprotein							98.0	91.0	93.0					5																	31317518		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317518C>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1549C>G	5.37:g.31317518C>G	ENSP00000265071:p.Pro517Ala					CDH6_uc003jhd.1_Missense_Mutation_p.P517A	p.P517A	NM_004932	NP_004923	P55285	CADH6_HUMAN			10	1875	+			517			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1549C>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183362	0.38511	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.59638	0.25;0.25	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.215894	0.49305	D	0.000151	T	0.60157	0.2247	M	0.88310	2.945	0.40333	D	0.978949	B;B	0.30511	0.051;0.282	B;B	0.33254	0.11;0.16	T	0.67256	-0.5716	10	0.54805	T	0.06	.	4.8211	0.13390	0.0:0.6336:0.1967:0.1697	.	517;517	P55285;P55285-2	CADH6_HUMAN;.	A	462;517	ENSP00000424843:P462A;ENSP00000265071:P517A	ENSP00000265071:P517A	P	+	1	0	CDH6	31353275	0.989000	0.36119	1.000000	0.80357	0.736000	0.42039	2.289000	0.43523	2.621000	0.88768	0.650000	0.86243	CCT		0.398	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932		4	110	0	0	0	0.009096	0	4	110		
RPL37	6167	broad.mit.edu	37	5	40834293	40834293	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:40834293G>A	ENST00000274242.5	-	3	363	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Missense_Mutation_p.R72C|RPL37_ENST00000509877.1_Intron|SNORD72_ENST00000390994.1_RNA	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	72					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			lung(3)|ovary(1)	4		Breast(839;0.238)				CTGAATCTGCGGTATACAATT	0.398																																					Colon(188;1411 2035 4978 19588 31462)	uc003jme.1		NaN																	0					0						c.(214-216)CGC>TGC		ribosomal protein L37							121.0	109.0	113.0					5																	40834293		2203	4300	6503	SO:0001583	missense	6167				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr5:40834293G>A	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.214C>T	5.37:g.40834293G>A	ENSP00000274242:p.Arg72Cys					SNORD72_uc003jmf.1_5'Flank	p.R72C	NM_000997	NP_000988	P61927	RL37_HUMAN			3	314	-		Breast(839;0.238)	72					B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	37	c.214C>T	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345701	0.82022	.	.	ENSG00000145592	ENST00000274242;ENST00000508493	T	0.54071	0.59	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.09377	0.004	T	0.46345	-0.9198	9	0.62326	D	0.03	.	18.7591	0.91843	0.0:0.0:1.0:0.0	.	72	P61927	RL37_HUMAN	C	72	ENSP00000274242:R72C	ENSP00000274242:R72C	R	-	1	0	RPL37	40870050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.832000	0.99423	2.435000	0.82474	0.563000	0.77884	CGC		0.398	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2		NM_000997		12	71	0	0	0	0.013537	0	12	71		
MROH2B	133558	broad.mit.edu	37	5	41057463	41057463	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:41057463C>G	ENST00000399564.4	-	8	1207		c.e8-1		MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B																		GTTTTAGGCTCTAAAGTGGAA	0.433																																						uc003jmj.3		NaN																	0				ovary(6)|central_nervous_system(2)	8						c.e8-1		HEAT repeat family member 7B2							37.0	35.0	36.0					5																	41057463		1862	4115	5977	SO:0001630	splice_region_variant	133558						binding	g.chr5:41057463C>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.757-1G>C	5.37:g.41057463C>G						HEATR7B2_uc003jmi.3_Intron	p.S253_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			8	1247	-								Q68DM1|Q7Z4U4|Q8N7X3	Splice_Site	SNP	ENST00000399564.4	37	c.757_splice	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084267	0.20309	.	.	ENSG00000171495	ENST00000399564	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4504	0.67382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR7B2	41093220	1.000000	0.71417	0.993000	0.49108	0.070000	0.16714	3.256000	0.51492	2.873000	0.98535	0.561000	0.74099	.		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489	Intron	5	1	0	0	0	0.000602	0	5	1		
MAST4	375449	broad.mit.edu	37	5	66449324	66449324	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:66449324G>A	ENST00000403625.2	+	26	3859	c.3564G>A	c.(3562-3564)ctG>ctA	p.L1188L	MAST4_ENST00000404260.3_Silent_p.L1191L|MAST4_ENST00000261569.7_Silent_p.L994L|MAST4_ENST00000403666.1_Silent_p.L999L|MAST4_ENST00000405643.1_Silent_p.L1009L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1191	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					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)		AGGCAGGACTGAAGGCTGGAG	0.428																																						uc003jut.1		NaN																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(2995-2997)CTG>CTA		microtubule associated serine/threonine kinase							87.0	90.0	89.0					5																	66449324		1950	4122	6072	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66449324G>A	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.3564G>A	5.37:g.66449324G>A						MAST4_uc003juw.2_Silent_p.L927L	p.L999L	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	25	3065	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1191			PDZ.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.2997G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	7.233	0.599802	0.13939	.	.	ENSG00000069020	ENST00000443808	.	.	.	6.05	3.26	0.37387	.	.	.	.	.	T	0.47021	0.1423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32214	-0.9915	4	.	.	.	-16.3139	3.6072	0.08046	0.1903:0.114:0.5781:0.1176	.	.	.	.	K	245	.	.	E	+	1	0	MAST4	66485080	0.979000	0.34478	1.000000	0.80357	0.653000	0.38743	0.072000	0.14617	0.408000	0.25621	0.650000	0.86243	GAA		0.428	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				5	8	0	0	0	0.001168	0	5	8		
PIK3R1	5295	broad.mit.edu	37	5	67576548	67576548	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:67576548C>G	ENST00000521381.1	+	6	1443	c.827C>G	c.(826-828)tCa>tGa	p.S276*	PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.S276*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.S276*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.S276*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	276	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TTCAGATTCTCAGCAGCCAGG	0.383			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2		NaN		Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(826-828)TCA>TGA		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						63.0	63.0	63.0					5																	67576548		2203	4299	6502	SO:0001587	stop_gained	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67576548C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.827C>G	5.37:g.67576548C>G	ENSP00000428056:p.Ser276*	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Nonsense_Mutation_p.S276*	p.S276*	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	6	1387	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	276			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Nonsense_Mutation	SNP	ENST00000521381.1	37	c.827C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165716	0.94768	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000522084	.	.	.	5.93	5.01	0.66863	.	0.242334	0.42682	D	0.000674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-6.8921	10.7211	0.46040	0.2251:0.6607:0.1142:0.0	.	.	.	.	X	276;276;276;276;6;6	.	ENSP00000274335:S276X	S	+	2	0	PIK3R1	67612304	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.040000	0.57333	2.814000	0.96858	0.563000	0.77884	TCA		0.383	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2		NM_181504		11	31	0	0	0	0.008291	0	11	31		
GPR98	84059	broad.mit.edu	37	5	90074805	90074805	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:90074805G>C	ENST00000405460.2	+	64	13069	c.12973G>C	c.(12973-12975)Gaa>Caa	p.E4325Q	GPR98_ENST00000425867.2_5'Flank	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4325	Calx-beta 29. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTCCTCTTTGAAGCAGGGGA	0.488																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(12973-12975)GAA>CAA		G protein-coupled receptor 98 precursor							107.0	109.0	108.0					5																	90074805		2037	4182	6219	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90074805G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12973G>C	5.37:g.90074805G>C	ENSP00000384582:p.Glu4325Gln					GPR98_uc003kjt.2_Missense_Mutation_p.E2031Q|GPR98_uc003kjw.2_5'Flank	p.E4325Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	64	13069	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4325			Extracellular (Potential).|Calx-beta 29.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.12973G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768890	0.31320	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.29397	1.57	5.61	5.61	0.85477	Na-Ca exchanger/integrin-beta4 (2);	0.411612	0.29884	N	0.010956	T	0.21921	0.0528	L	0.35341	1.055	0.80722	D	1	B	0.32010	0.351	B	0.33254	0.16	T	0.05582	-1.0876	10	0.14656	T	0.56	.	10.1391	0.42725	0.1479:0.0:0.8521:0.0	.	4325	Q8WXG9	GPR98_HUMAN	Q	4325	ENSP00000384582:E4325Q	ENSP00000296619:E4325Q	E	+	1	0	GPR98	90110561	0.998000	0.40836	0.946000	0.38457	0.723000	0.41478	2.402000	0.44521	2.632000	0.89209	0.655000	0.94253	GAA		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		28	61	0	0	0	0.005443	0	28	61		
VDAC1	7416	broad.mit.edu	37	5	133326753	133326753	+	Silent	SNP	C	C	T	rs201680896		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:133326753C>T	ENST00000265333.3	-	4	454	c.210G>A	c.(208-210)acG>acA	p.T70T	VDAC1_ENST00000395044.3_Silent_p.T70T|VDAC1_ENST00000395047.2_Silent_p.T70T|VDAC1_ENST00000466080.1_5'UTR	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TCTCTGTAAACGTCAGGCCGT	0.458																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.1		NaN																	0					0						c.(208-210)ACG>ACA		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)	C		0,4406		0,0,2203	206.0	185.0	192.0		210	-0.3	1.0	5		192	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VDAC1	NM_003374.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		70/284	133326753	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326753C>T		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.210G>A	5.37:g.133326753C>T						VDAC1_uc003kyq.1_Silent_p.T70T|VDAC1_uc003kyr.1_Silent_p.T70T	p.T70T	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	309	-			70			Beta stranded.		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Silent	SNP	ENST00000265333.3	37	c.210G>A	CCDS4168.1																																																																																				0.458	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1				12	80	0	0	0	0.010729	0	12	80		
CXCL14	9547	broad.mit.edu	37	5	134910273	134910273	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:134910273G>A	ENST00000337225.5	-	3	773	c.309C>T	c.(307-309)aaC>aaT	p.N103N	CXCL14_ENST00000512158.1_Silent_p.N91N|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	103					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTTCTCGTTCCAGGCGT	0.617																																						uc003lay.2		NaN																	0					0						c.(307-309)AAC>AAT		small inducible cytokine B14 precursor							163.0	125.0	138.0					5																	134910273		2203	4300	6503	SO:0001819	synonymous_variant	9547				cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	g.chr5:134910273G>A	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.309C>T	5.37:g.134910273G>A							p.N103N	NM_004887	NP_004878	O95715	CXL14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	774	-			103					B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Silent	SNP	ENST00000337225.5	37	c.309C>T	CCDS4188.1																																																																																				0.617	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_004887		9	20	0	0	0	0.006214	0	9	20		
PCDHGA2	56113	broad.mit.edu	37	5	140718701	140718701	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140718701G>C	ENST00000394576.2	+	1	163	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGGTTTGGAGCCCCTGGC	0.617											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljk.1		NaN																	0				skin(2)|ovary(1)	3						c.(163-165)GAG>CAG		protocadherin gamma subfamily A, 2 isoform 1							74.0	75.0	74.0					5																	140718701		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140718701G>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.163G>C	5.37:g.140718701G>C	ENSP00000378077:p.Glu55Gln		OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E55Q	p.E55Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	348	+			55			Cadherin 1.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.163G>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.648764	0.29336	.	.	ENSG00000081853	ENST00000394576	T	0.15718	2.4	5.07	5.07	0.68467	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.41605	U	0.000852	T	0.20577	0.0495	L	0.52011	1.625	0.28878	N	0.894547	B;B	0.30793	0.071;0.295	B;B	0.36186	0.073;0.219	T	0.07809	-1.0753	10	0.40728	T	0.16	.	13.9751	0.64268	0.0:0.1529:0.8471:0.0	.	55;55	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	55	ENSP00000378077:E55Q	ENSP00000378077:E55Q	E	+	1	0	PCDHGA2	140698885	0.470000	0.25854	0.983000	0.44433	0.283000	0.27025	0.870000	0.28010	2.520000	0.84964	0.585000	0.79938	GAG		0.617	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		19	42	0	0	0	0.010504	0	19	42		
PCDHGA8	9708	broad.mit.edu	37	5	140774463	140774463	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:140774463G>A	ENST00000398604.2	+	1	2083	c.2083G>A	c.(2083-2085)Gtg>Atg	p.V695M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	695					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTCGTGGTGGCAGTGGC	0.607																																						uc003lkd.1		NaN																	0					0						c.(2083-2085)GTG>ATG		protocadherin gamma subfamily A, 8 isoform 1							35.0	40.0	38.0					5																	140774463		2192	4287	6479	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774463G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.2083G>A	5.37:g.140774463G>A	ENSP00000381605:p.Val695Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V695M	p.V695M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2981	+			695			Helical; (Potential).		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.2083G>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	11.70	1.717306	0.30413	.	.	ENSG00000253767	ENST00000398604	T	0.18502	2.21	4.5	2.54	0.30619	.	0.388916	0.14068	U	0.343618	T	0.42063	0.1186	H	0.95611	3.695	0.23050	N	0.998378	D;D	0.65815	0.995;0.977	P;P	0.58520	0.84;0.813	T	0.41448	-0.9508	10	0.87932	D	0	.	2.6207	0.04915	0.157:0.1645:0.5104:0.1681	.	695;695	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	695	ENSP00000381605:V695M	ENSP00000381605:V695M	V	+	1	0	PCDHGA8	140754647	0.000000	0.05858	1.000000	0.80357	0.002000	0.02628	-1.010000	0.03656	1.123000	0.41961	-0.152000	0.13540	GTG		0.607	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088		7	22	0	0	0	0.006214	0	7	22		
PCDH12	51294	broad.mit.edu	37	5	141336156	141336156	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:141336156C>T	ENST00000231484.3	-	1	2471	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCACTGCTCTCTGTCCAGT	0.498																																						uc003llx.2		NaN																	0				ovary(3)	3						c.(1261-1263)GAG>AAG		protocadherin 12 precursor							207.0	181.0	190.0					5																	141336156		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336156C>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1261G>A	5.37:g.141336156C>T	ENSP00000231484:p.Glu421Lys						p.E421K	NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2472	-		all_hematologic(541;0.0999)	421			Cadherin 4.|Extracellular (Potential).		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1261G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453788	0.84209	.	.	ENSG00000113555	ENST00000231484	T	0.72394	-0.65	4.92	4.92	0.64577	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90833	0.4718	10	0.87932	D	0	.	15.6596	0.77174	0.0:1.0:0.0:0.0	.	421	Q9NPG4	PCD12_HUMAN	K	421	ENSP00000231484:E421K	ENSP00000231484:E421K	E	-	1	0	PCDH12	141316340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.926000	0.70070	2.558000	0.86282	0.561000	0.74099	GAG		0.498	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1		NM_016580		38	78	0	0	0	0.005524	0	38	78		
TIMD4	91937	broad.mit.edu	37	5	156381553	156381553	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:156381553C>T	ENST00000274532.2	-	2	329	c.273G>A	c.(271-273)ccG>ccA	p.P91P	TIMD4_ENST00000407087.3_Silent_p.P91P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	91	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCACCTCTCGGGATAGTCC	0.517																																						uc003lwh.2		NaN																	0				ovary(2)	2						c.(271-273)CCG>CCA		T-cell immunoglobulin and mucin domain							112.0	100.0	104.0					5																	156381553		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156381553C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.273G>A	5.37:g.156381553C>T						TIMD4_uc010jii.2_Silent_p.P91P	p.P91P	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	330	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	91			Ig-like V-type.|Extracellular (Potential).		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.273G>A	CCDS4332.1																																																																																				0.517	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1		NM_138379		20	39	0	0	0	0.008871	0	20	39		
CYFIP2	26999	broad.mit.edu	37	5	156788517	156788517	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:156788517G>A	ENST00000521420.1	+	25	2963	c.2872G>A	c.(2872-2874)Gag>Aag	p.E958K	CYFIP2_ENST00000522463.1_Missense_Mutation_p.E788K|CTB-109A12.1_ENST00000509655.2_RNA|CYFIP2_ENST00000347377.6_Missense_Mutation_p.E984K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E984K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E909K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1009K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E683K					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGACATCATTGAGTACGCAGA	0.542																																						uc003lwq.2		NaN																	0					0						c.(2950-2952)GAG>AAG		cytoplasmic FMR1 interacting protein 2							98.0	100.0	99.0					5																	156788517		2203	4300	6503	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156788517G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2872G>A	5.37:g.156788517G>A	ENSP00000430904:p.Glu958Lys					CYFIP2_uc011ddn.1_Missense_Mutation_p.E958K|CYFIP2_uc011ddo.1_Missense_Mutation_p.E788K|CYFIP2_uc003lwr.2_Missense_Mutation_p.E984K|CYFIP2_uc003lws.2_Missense_Mutation_p.E984K|CYFIP2_uc003lwt.2_Missense_Mutation_p.E887K|CYFIP2_uc011ddp.1_Missense_Mutation_p.E718K	p.E984K	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		28	3088	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1009						Missense_Mutation	SNP	ENST00000521420.1	37	c.2950G>A		.	.	.	.	.	.	.	.	.	.	G	23.6	4.439509	0.83885	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;P	0.44776	0.073;0.146;0.056;0.27;0.008;0.843	B;B;B;B;B;P	0.61722	0.028;0.101;0.068;0.089;0.022;0.893	T	0.02567	-1.1140	10	0.13853	T	0.58	-30.5287	19.5283	0.95215	0.0:0.0:1.0:0.0	.	848;788;958;984;984;1009	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	K	1009;788;958;984;984;909;683	ENSP00000325817:E1009K;ENSP00000428009:E788K;ENSP00000430904:E958K;ENSP00000313567:E984K;ENSP00000366799:E984K;ENSP00000444645:E909K;ENSP00000403793:E683K	ENSP00000325817:E1009K	E	+	1	0	CYFIP2	156721095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.814000	0.99346	2.596000	0.87737	0.655000	0.94253	GAG		0.542	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1		NM_001037332		11	19	0	0	0	0.013537	0	11	19		
EIF4E1B	253314	broad.mit.edu	37	5	176070159	176070159	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:176070159C>T	ENST00000318682.6	+	4	676	c.92C>T	c.(91-93)aCa>aTa	p.T31I	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.T31I	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	31					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGACGCCCACAGGAGAAAAG	0.592																																						uc010jkf.1		NaN																	0					0						c.(91-93)ACA>ATA		eukaryotic translation initiation factor 4E							42.0	52.0	49.0					5																	176070159		1996	4168	6164	SO:0001583	missense	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176070159C>T		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.92C>T	5.37:g.176070159C>T	ENSP00000323714:p.Thr31Ile						p.T31I	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	676	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	31						Missense_Mutation	SNP	ENST00000318682.6	37	c.92C>T	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844432	0.16963	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T	0.44881	0.91;0.91	4.51	-9.01	0.00744	Translation Initiation factor eIF- 4e-like  domain (1);	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.23013	-1.0200	9	0.38643	T	0.18	.	6.1133	0.20112	0.0902:0.5773:0.2151:0.1175	.	31	A6NMX2	I4E1B_HUMAN	I	31	ENSP00000323714:T31I;ENSP00000427633:T31I	ENSP00000323714:T31I	T	+	2	0	EIF4E1B	176002765	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.556000	0.00924	-2.123000	0.00823	-2.289000	0.00267	ACA		0.592	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1		NM_001099408		19	26	0	0	0	0.008871	0	19	26		
CNOT6	57472	broad.mit.edu	37	5	180000991	180000991	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr5:180000991A>C	ENST00000393356.1	+	14	1889	c.1465A>C	c.(1465-1467)Ata>Cta	p.I489L	CNOT6_ENST00000261951.4_Missense_Mutation_p.I489L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	489	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTCAGGGTATAATAGACTA	0.418																																						uc003mlx.2		NaN																	0					0						c.(1465-1467)ATA>CTA		CCR4-NOT transcription complex, subunit 6							86.0	81.0	83.0					5																	180000991		2203	4300	6503	SO:0001583	missense	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:180000991A>C	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1465A>C	5.37:g.180000991A>C	ENSP00000377024:p.Ile489Leu					CNOT6_uc010jld.2_Missense_Mutation_p.I489L|CNOT6_uc010jle.2_Missense_Mutation_p.I484L	p.I489L	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	12	1814	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	489					A7MD46|D3DWR0	Missense_Mutation	SNP	ENST00000393356.1	37	c.1465A>C	CCDS4455.1	.	.	.	.	.	.	.	.	.	.	A	9.854	1.194484	0.22037	.	.	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.80033	-1.33;-1.33	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);	0.097704	0.64402	D	0.000001	T	0.72020	0.3409	L	0.43701	1.375	0.51767	D	0.999936	B	0.12630	0.006	B	0.17979	0.02	T	0.66011	-0.6029	9	.	.	.	-14.449	9.9541	0.41655	0.9244:0.0:0.0756:0.0	.	489	Q9ULM6	CNOT6_HUMAN	L	489	ENSP00000261951:I489L;ENSP00000377024:I489L	.	I	+	1	0	CNOT6	179933597	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	5.713000	0.68415	2.062000	0.61559	0.374000	0.22700	ATA		0.418	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1		NM_015455		15	33	0	0	0	0.003163	0	15	33		
GMDS	2762	broad.mit.edu	37	6	1726704	1726704	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1726704C>G	ENST00000380815.4	-	9	1202	c.933G>C	c.(931-933)gaG>gaC	p.E311D	GMDS_ENST00000530927.1_Missense_Mutation_p.E281D	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	311					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTTTGCCGGTCTCTTTACATC	0.493																																						uc003mtq.2		NaN																	0				central_nervous_system(1)	1						c.(931-933)GAG>GAC		GDP-mannose 4,6-dehydratase							268.0	233.0	245.0					6																	1726704		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1726704C>G	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.933G>C	6.37:g.1726704C>G	ENSP00000370194:p.Glu311Asp						p.E311D	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	9	1123	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	311					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.933G>C	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	9.799	1.179955	0.21787	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.45	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.10707	0.03	0.53688	D	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.06338	-1.0832	9	0.26408	T	0.33	-20.0169	6.4614	0.21958	0.0:0.6434:0.1298:0.2267	.	311	O60547	GMDS_HUMAN	D	281;311	.	ENSP00000370194:E311D	E	-	3	2	GMDS	1671703	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.513000	0.35823	0.616000	0.30141	0.563000	0.77884	GAG		0.493	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3				19	95	0	0	0	0.014323	0	19	95		
GMDS	2762	broad.mit.edu	37	6	1726724	1726724	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1726724C>T	ENST00000380815.4	-	9	1182	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	GMDS_ENST00000530927.1_Missense_Mutation_p.E275K	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	305					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTGCCCACTTCATTTTCATTC	0.493																																						uc003mtq.2		NaN																	0				central_nervous_system(1)	1						c.(913-915)GAA>AAA		GDP-mannose 4,6-dehydratase							228.0	202.0	211.0					6																	1726724		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1726724C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.913G>A	6.37:g.1726724C>T	ENSP00000370194:p.Glu305Lys						p.E305K	NM_001500	NP_001491	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	9	1103	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	305					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.913G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221620	0.95139	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.89770	0.6811	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92778	0.6238	9	0.87932	D	0	-10.9258	19.7468	0.96255	0.0:1.0:0.0:0.0	.	305	O60547	GMDS_HUMAN	K	275;305	.	ENSP00000370194:E305K	E	-	1	0	GMDS	1671723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.735000	0.74806	2.678000	0.91216	0.563000	0.77884	GAA		0.493	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3				18	90	0	0	0	0.006122	0	18	90		
DSP	1832	broad.mit.edu	37	6	7584100	7584100	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:7584100C>T	ENST00000379802.3	+	24	6946	c.6605C>T	c.(6604-6606)tCa>tTa	p.S2202L	DSP_ENST00000418664.2_Missense_Mutation_p.S1603L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2202	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCTTGCTTTCAGTACAGAAG	0.458																																						uc003mxp.1		NaN																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6604-6606)TCA>TTA		desmoplakin isoform I							138.0	124.0	129.0					6																	7584100		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584100C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6605C>T	6.37:g.7584100C>T	ENSP00000369129:p.Ser2202Leu					DSP_uc003mxq.1_Missense_Mutation_p.S1603L	p.S2202L	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6884	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2202			Plectin 6.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6605C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	8.591	0.884637	0.17467	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68765	-0.35;-0.35	5.62	4.74	0.60224	.	0.827874	0.10473	N	0.670565	T	0.35038	0.0918	N	0.17474	0.49	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.10450	0.005;0.0	T	0.09930	-1.0652	10	0.25751	T	0.34	.	15.4631	0.75377	0.0:0.9301:0.0:0.0699	.	1650;2202	Q4LE79;P15924	.;DESP_HUMAN	L	2202;1603	ENSP00000369129:S2202L;ENSP00000396591:S1603L	ENSP00000369129:S2202L	S	+	2	0	DSP	7529099	0.003000	0.15002	0.119000	0.21687	0.866000	0.49608	1.814000	0.38972	2.818000	0.97014	0.655000	0.94253	TCA		0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		38	52	0	0	0	0.006999	0	38	52		
HIST1H3B	8358	broad.mit.edu	37	6	26031997	26031997	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26031997C>T	ENST00000244661.2	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGTAGGCCTCACAAGCCTCC	0.567																																						uc003nfs.1		NaN																	0				ovary(2)	2						c.(292-294)GAG>AAG		histone cluster 1, H3b							72.0	73.0	73.0					6																	26031997		2203	4300	6503	SO:0001583	missense	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26031997C>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.292G>A	6.37:g.26031997C>T	ENSP00000244661:p.Glu98Lys						p.E98K	NM_003537	NP_003528	P68431	H31_HUMAN			1	292	-			98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000244661.2	37	c.292G>A	CCDS4573.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.956801	0.73902	.	.	ENSG00000124693	ENST00000244661	T	0.77489	-1.1	5.07	5.07	0.68467	.	.	.	.	.	D	0.84727	0.5536	.	.	.	0.47905	D	0.999544	.	.	.	.	.	.	D	0.86781	0.1979	6	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	.	.	.	K	98	ENSP00000244661:E98K	ENSP00000244661:E98K	E	-	1	0	HIST1H3B	26139976	1.000000	0.71417	0.987000	0.45799	0.547000	0.35210	7.492000	0.81482	2.487000	0.83934	0.561000	0.74099	GAG		0.567	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1		NM_003537		21	65	0	0	0	0.008871	0	21	65		
HIST1H1C	3006	broad.mit.edu	37	6	26056393	26056393	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26056393C>T	ENST00000343677.2	-	1	306	c.264G>A	c.(262-264)gtG>gtA	p.V88V		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	88	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGCCCTTGCTCACCAGGCTCT	0.532																																						uc003nfw.2		NaN																	0				ovary(3)|skin(2)	5						c.(262-264)GTG>GTA		histone cluster 1, H1c							112.0	117.0	115.0					6																	26056393		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056393C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.264G>A	6.37:g.26056393C>T							p.V88V	NM_005319	NP_005310	P16403	H12_HUMAN			1	307	-			88			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.264G>A	CCDS4577.1																																																																																				0.532	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1		NM_005319		34	129	0	0	0	0.013726	0	34	129		
BTN1A1	696	broad.mit.edu	37	6	26501534	26501534	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:26501534C>G	ENST00000244513.6	+	1	86	c.20C>G	c.(19-21)tCc>tGc	p.S7C		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	7						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TTCCCAAGCTCCGGTCTCCCC	0.522																																						uc003nif.3		NaN																	0				ovary(1)|skin(1)	2						c.(19-21)TCC>TGC		butyrophilin, subfamily 1, member A1 precursor							102.0	96.0	98.0					6																	26501534		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26501534C>G	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.20C>G	6.37:g.26501534C>G	ENSP00000244513:p.Ser7Cys						p.S7C	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			1	40	+			7					Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.20C>G	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926938	0.18056	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.38401	1.14	5.33	0.679	0.17975	.	0.811877	0.11003	N	0.610292	T	0.11324	0.0276	L	0.49699	1.58	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.32348	-0.9910	10	0.36615	T	0.2	.	4.5779	0.12243	0.0:0.5099:0.154:0.3361	.	7	Q13410	BT1A1_HUMAN	C	7	ENSP00000244513:S7C	ENSP00000244513:S7C	S	+	2	0	BTN1A1	26609513	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.077000	0.30741	-0.175000	0.10725	-0.818000	0.03119	TCC		0.522	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1		NM_001732		40	55	0	0	0	0.010771	0	40	55		
HSPA1A	3303	broad.mit.edu	37	6	31783561	31783561	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:31783561G>A	ENST00000375651.5	+	1	271	c.28G>A	c.(28-30)Gac>Aac	p.D10N	HSPA1L_ENST00000375654.4_5'Flank|HSPA1A_ENST00000608703.1_Missense_Mutation_p.D10N|HSPA1A_ENST00000458062.2_Missense_Mutation_p.D10N|HSPA1L_ENST00000417199.3_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	10					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						GATCGGCATCGACCTGGGCAC	0.647																																						uc003nxj.2		NaN																	0				ovary(1)	1						c.(28-30)GAC>AAC		heat shock 70kDa protein 1A							46.0	53.0	50.0					6																	31783561		2203	4299	6502	SO:0001583	missense	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31783561G>A	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.28G>A	6.37:g.31783561G>A	ENSP00000364802:p.Asp10Asn					HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Missense_Mutation_p.D10N|HSPA1A_uc003nxi.1_Missense_Mutation_p.D10N|uc011dok.1_RNA	p.D10N	NM_005345	NP_005336	P08107	HSP71_HUMAN			1	271	+			10					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375651.5	37	c.28G>A	CCDS34414.1	.	.	.	.	.	.	.	.	.	.	g	24.3	4.517003	0.85495	.	.	ENSG00000204389	ENST00000375651;ENST00000375652;ENST00000541556;ENST00000458062;ENST00000435626	T;T	0.22945	1.93;1.93	4.27	3.32	0.38043	Heat shock protein 70, conserved site (1);	0.000000	0.40640	N	0.001055	T	0.67192	0.2867	H	0.99994	5.395	0.31471	N	0.668323	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.959	T	0.76454	-0.2953	10	0.87932	D	0	-46.2992	10.8713	0.46885	0.0:0.0:0.8112:0.1888	.	10;10;10	B4DNX1;P08107;Q5SP16	.;HSP71_HUMAN;.	N	10	ENSP00000364802:D10N;ENSP00000402651:D10N	ENSP00000364802:D10N	D	+	1	0	HSPA1A	31891540	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.740000	0.84986	2.127000	0.65507	0.449000	0.29647	GAC		0.647	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2				40	34	0	0	0	0.01441	0	40	34		
HLA-DQA1	3117	broad.mit.edu	37	6	32609935	32609935	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:32609935A>G	ENST00000343139.5	+	3	620	c.518A>G	c.(517-519)aAg>aGg	p.K173R	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.K173R|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.K173R	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	172	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)|membrane (GO:0016020)|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)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCCTTCTTCAAGATCAGTTAC	0.512																																						uc003obr.2		NaN																	0					0						c.(517-519)AAG>AGG		major histocompatibility complex, class II, DQ							110.0	97.0	102.0					6																	32609935		1509	2704	4213	SO:0001583	missense	3117				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.chr6:32609935A>G		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.518A>G	6.37:g.32609935A>G	ENSP00000339398:p.Lys173Arg					HLA-DQA1_uc003obs.2_RNA|HLA-DQA1_uc003obt.1_Missense_Mutation_p.K173R|HLA-DQA1_uc003obu.2_5'Flank	p.K173R	NM_002122	NP_002113	P01909	DQA1_HUMAN			3	571	+			172			Ig-like C1-type.|Alpha-2.|Extracellular (Potential).		O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	c.518A>G	CCDS4752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.62|18.62	3.664103|3.664103	0.67700|0.67700	.|.	.|.	ENSG00000196735|ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000496318;ENST00000374949|ENST00000486548	T;T;T;T|.	0.02916|.	4.11;4.11;4.11;4.11|.	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	0.157867|.	0.41097|.	U|.	0.000953|.	T|T	0.52901|0.52901	0.1763|0.1763	M|M	0.62209|0.62209	1.925|1.925	0.36489|0.36489	D|D	0.868339|0.868339	D;D|.	0.76494|.	0.999;0.965|.	D;D|.	0.91635|.	0.999;0.926|.	T|T	0.55829|0.55829	-0.8079|-0.8079	10|5	0.87932|.	D|.	0|.	.|.	11.3866|11.3866	0.49789|0.49789	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	179;173|.	Q59F33;G4XQK2|.	.;.|.	R|G	173|146	ENSP00000339398:K173R;ENSP00000378767:K173R;ENSP00000437302:K173R;ENSP00000364087:K173R|.	ENSP00000339398:K173R|.	K|R	+|+	2|1	0|2	HLA-DQA1|HLA-DQA1	32717913|32717913	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.929000|0.929000	0.56500|0.56500	2.271000|2.271000	0.43364|0.43364	1.859000|1.859000	0.53934|0.53934	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.512	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3		NM_002122		18	67	0	0	0	0.012319	0	18	67		
HLA-DQA2	3118	broad.mit.edu	37	6	32713754	32713754	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:32713754A>G	ENST00000374940.3	+	3	620	c.518A>G	c.(517-519)aAg>aGg	p.K173R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	173	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)"""	TCCTTCTTCAAGATCAGTTAC	0.517																																						uc003obx.2		NaN																	0					0						c.(517-519)AAG>AGG		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						215.0	214.0	214.0					6																	32713754		1510	2707	4217	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.chr6:32713754A>G		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.518A>G	6.37:g.32713754A>G	ENSP00000364076:p.Lys173Arg						p.K173R	NM_020056	NP_064440	P01906	DQA2_HUMAN			3	576	+			173			Alpha-2.|Extracellular (Potential).|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.518A>G	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	14.30	2.495350	0.44352	.	.	ENSG00000237541	ENST00000374940	T	0.02916	4.11	3.06	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.151753	0.42964	U	0.000623	T	0.05547	0.0146	M	0.71920	2.185	0.22639	N	0.998909	D	0.55385	0.971	D	0.68192	0.956	T	0.07829	-1.0752	10	0.87932	D	0	.	9.4676	0.38822	1.0:0.0:0.0:0.0	.	173	P01906	DQA2_HUMAN	R	173	ENSP00000364076:K173R	ENSP00000364076:K173R	K	+	2	0	HLA-DQA2	32821732	0.996000	0.38824	0.238000	0.24106	0.801000	0.45260	1.649000	0.37281	1.388000	0.46506	0.147000	0.16070	AAG		0.517	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2		NM_020056		26	182	0	0	0	0.007291	0	26	182		
ZBTB9	221504	broad.mit.edu	37	6	33423781	33423781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:33423781C>T	ENST00000395064.2	+	2	1172	c.904C>T	c.(904-906)Cag>Tag	p.Q302*		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	302	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AAGCGGAACTCAGCCTGGAGG	0.547																																						uc003oeq.2		NaN																	0					0						c.(904-906)CAG>TAG		zinc finger and BTB domain containing 9							62.0	66.0	64.0					6																	33423781		2203	4300	6503	SO:0001587	stop_gained	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423781C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.904C>T	6.37:g.33423781C>T	ENSP00000378503:p.Gln302*						p.Q302*	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN			2	1172	+			302			Gly-rich.		A2AB19	Nonsense_Mutation	SNP	ENST00000395064.2	37	c.904C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	37	6.189444	0.97362	.	.	ENSG00000213588	ENST00000395064	.	.	.	4.99	4.12	0.48240	.	0.641132	0.12242	U	0.486446	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	7.4514	0.27240	0.0:0.8084:0.0:0.1916	.	.	.	.	X	302	.	ENSP00000378503:Q302X	Q	+	1	0	ZBTB9	33531759	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.215000	0.17562	1.319000	0.45190	0.655000	0.94253	CAG		0.547	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1		NM_152735		26	61	0	0	0	0.003954	0	26	61		
CCND3	896	broad.mit.edu	37	6	41908144	41908144	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:41908144G>C	ENST00000372991.4	-	2	576	c.378C>G	c.(376-378)atC>atG	p.I126M	CCND3_ENST00000510503.1_Missense_Mutation_p.I45M|CCND3_ENST00000511642.1_Missense_Mutation_p.I45M|CCND3_ENST00000372987.4_Missense_Mutation_p.I76M|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.I45M|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511686.1_Intron	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	126	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTCGGTGTAGATGCACAGTT	0.617			T	IGH@	MM																																	uc003orn.2		NaN		Dom	yes		6	6p21	896	T	cyclin D3			L	IGH@		MM		0					0						c.(376-378)ATC>ATG		cyclin D3 isoform 2							101.0	98.0	99.0					6																	41908144		2203	4300	6503	SO:0001583	missense	896				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr6:41908144G>C		CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.378C>G	6.37:g.41908144G>C	ENSP00000362082:p.Ile126Met					CCND3_uc003orp.2_Missense_Mutation_p.I45M|CCND3_uc011duk.1_Intron|CCND3_uc011dum.1_Missense_Mutation_p.I45M|CCND3_uc003orm.2_Missense_Mutation_p.I76M|CCND3_uc003oro.2_Intron|CCND3_uc011dul.1_Intron	p.I126M	NM_001760	NP_001751	P30281	CCND3_HUMAN	Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		2	543	-	Colorectal(47;0.121)		126			Cyclin N-terminal.		B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	ENST00000372991.4	37	c.378C>G	CCDS4863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.72|13.72	2.319933|2.319933	0.41096|0.41096	.|.	.|.	ENSG00000112576|ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000510503;ENST00000505064|ENST00000512426	T;T;T;T;T;T|.	0.12039|.	2.72;2.72;2.72;2.72;2.72;2.72|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.39835|0.39835	0.1093|0.1093	L|L	0.33137|0.33137	0.985|0.985	0.47407|0.47407	D|D	0.999418|0.999418	B;B;B|.	0.22276|.	0.021;0.067;0.039|.	B;B;B|.	0.32211|.	0.076;0.142;0.124|.	T|T	0.30995|0.30995	-0.9959|-0.9959	10|5	0.41790|.	T|.	0.15|.	.|.	11.0241|11.0241	0.47734|0.47734	0.0879:0.0:0.9121:0.0|0.0879:0.0:0.9121:0.0	.|.	45;126;76|.	B4E0N5;P30281;Q5T8J1|.	.;CCND3_HUMAN;.|.	M|C	126;45;76;45;45;45|61	ENSP00000362082:I126M;ENSP00000426212:I45M;ENSP00000362078:I76M;ENSP00000362079:I45M;ENSP00000425986:I45M;ENSP00000425830:I45M|.	ENSP00000362078:I76M|.	I|S	-|-	3|2	3|0	CCND3|CCND3	42016122|42016122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	1.554000|1.554000	0.36266|0.36266	2.199000|2.199000	0.70637|0.70637	0.462000|0.462000	0.41574|0.41574	ATC|TCT		0.617	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2		NM_001760		27	78	0	0	0	0.00632	0	27	78		
BEND6	221336	broad.mit.edu	37	6	56880031	56880031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:56880031G>A	ENST00000370746.3	+	4	668	c.399G>A	c.(397-399)tgG>tgA	p.W133*	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Nonsense_Mutation_p.W35*|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	133					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCACCCTCTGGAGAGCAACAA	0.478																																						uc010kab.2		NaN																	0					0						c.(397-399)TGG>TGA		BEN domain containing 6							130.0	128.0	129.0					6																	56880031		1946	4137	6083	SO:0001587	stop_gained	221336							g.chr6:56880031G>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.399G>A	6.37:g.56880031G>A	ENSP00000359782:p.Trp133*					BEND6_uc003pdi.3_Nonsense_Mutation_p.W35*	p.W133*	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			4	985	+			133					Q4G0W8|Q8N662|Q96NS6	Nonsense_Mutation	SNP	ENST00000370746.3	37	c.399G>A	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368271	0.95900	.	.	ENSG00000151917	ENST00000322055;ENST00000370746;ENST00000545789	.	.	.	5.09	4.21	0.49690	.	0.113392	0.40908	D	0.000997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6258	12.3718	0.55260	0.0:0.0:0.8313:0.1687	.	.	.	.	X	133;133;35	.	ENSP00000322773:W133X	W	+	3	0	BEND6	56987990	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.990000	0.56965	1.335000	0.45486	-0.293000	0.09583	TGG		0.478	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4		NM_152731		31	49	0	0	0	0.007291	0	31	49		
OGFRL1	79627	broad.mit.edu	37	6	72011597	72011597	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:72011597G>C	ENST00000370435.4	+	7	1335	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	401						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAGTAATGCTGAGAACATGAA	0.458																																						uc003pfx.1		NaN																	0					0						c.(1201-1203)GAG>CAG		opioid growth factor receptor-like 1							79.0	85.0	83.0					6																	72011597		2203	4300	6503	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72011597G>C		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1201G>C	6.37:g.72011597G>C	ENSP00000359464:p.Glu401Gln						p.E401Q	NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN			7	1364	+			401					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.1201G>C	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483542	0.44147	.	.	ENSG00000119900	ENST00000370435	T	0.47869	0.83	5.85	4.98	0.66077	.	0.998509	0.08105	N	0.997114	T	0.23289	0.0563	L	0.43152	1.355	0.09310	N	1	P	0.42827	0.791	B	0.35240	0.198	T	0.18116	-1.0347	10	0.28530	T	0.3	-5.3342	14.9893	0.71374	0.0682:0.0:0.9318:0.0	.	401	Q5TC84	OGRL1_HUMAN	Q	401	ENSP00000359464:E401Q	ENSP00000359464:E401Q	E	+	1	0	OGFRL1	72068318	0.935000	0.31712	0.006000	0.13384	0.045000	0.14185	3.838000	0.55828	1.485000	0.48380	0.563000	0.77884	GAG		0.458	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2		NM_024576		28	42	0	0	0	0.007291	0	28	42		
HACE1	57531	broad.mit.edu	37	6	105198288	105198288	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:105198288G>C	ENST00000262903.4	-	20	2547	c.2271C>G	c.(2269-2271)atC>atG	p.I757M	HACE1_ENST00000369125.2_Missense_Mutation_p.I542M|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	757	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAAGCATTGATCTGAGGCT	0.383																																						uc003pqu.1		NaN																	0				ovary(5)|lung(2)	7						c.(2269-2271)ATC>ATG		HECT domain and ankyrin repeat containing, E3							111.0	105.0	107.0					6																	105198288		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198288G>C	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2271C>G	6.37:g.105198288G>C	ENSP00000262903:p.Ile757Met					HACE1_uc010kcy.1_Missense_Mutation_p.I239M|HACE1_uc010kcz.1_Missense_Mutation_p.I542M|HACE1_uc010kcx.1_Missense_Mutation_p.I166M|HACE1_uc003pqt.1_Missense_Mutation_p.I410M	p.I757M	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	20	2548	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	757			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2271C>G	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.462983	0.43736	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.59083	0.29;0.29	5.3	3.52	0.40303	HECT (4);	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	N	0.16037	0.36	0.22787	N	0.998734	P;B;D;D	0.62365	0.519;0.45;0.991;0.988	P;B;D;D	0.73380	0.809;0.177;0.98;0.965	T	0.23190	-1.0195	10	0.31617	T	0.26	.	6.9635	0.24610	0.1549:0.0:0.6735:0.1715	.	542;246;757;410	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	M	757;542	ENSP00000262903:I757M;ENSP00000358121:I542M	ENSP00000262903:I757M	I	-	3	3	HACE1	105304981	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.087000	0.30865	0.620000	0.30215	0.563000	0.77884	ATC		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2		XM_045095		4	18	0	0	0	0.000602	0	4	18		
UTRN	7402	broad.mit.edu	37	6	144860468	144860468	+	Silent	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:144860468C>G	ENST00000367545.3	+	44	6408	c.6408C>G	c.(6406-6408)ctC>ctG	p.L2136L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2136					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGAAAAACTCAAATGGCTGA	0.348																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(6406-6408)CTC>CTG		utrophin							97.0	96.0	96.0					6																	144860468		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144860468C>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6408C>G	6.37:g.144860468C>G							p.L2136L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	44	6500	+		Ovarian(120;0.218)	2136					Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.6408C>G	CCDS34547.1																																																																																				0.348	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				13	32	0	0	0	0.013537	0	13	32		
KATNA1	11104	broad.mit.edu	37	6	149959681	149959681	+	Start_Codon_SNP	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:149959681C>G	ENST00000335647.5	-	1	47	c.3G>C	c.(1-3)atG>atC	p.M1I	KATNA1_ENST00000335643.8_Start_Codon_SNP_p.M1I|KATNA1_ENST00000367411.2_Start_Codon_SNP_p.M1I					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		TAAGAAGACTCATGTTCAACT	0.333																																						uc003qmr.1		NaN																	0				skin(1)	1						c.(1-3)ATG>ATC		katanin p60 subunit A 1							122.0	128.0	126.0					6																	149959681		2203	4300	6503	SO:0001582	initiator_codon_variant	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149959681C>G	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.3G>C	6.37:g.149959681C>G	ENSP00000335106:p.Met1Ile					KATNA1_uc003qms.2_Missense_Mutation_p.M1I|KATNA1_uc003qmt.2_Missense_Mutation_p.M1I|KATNA1_uc011eed.1_Missense_Mutation_p.M1I	p.M1I	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	1	48	-		Ovarian(120;0.0164)	1			Interaction with microtubule.|Interaction with KATNB1.			Missense_Mutation	SNP	ENST00000335647.5	37	c.3G>C	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663520	0.88251	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.95918	-3.35;-3.7;-3.35;-3.85	5.75	5.75	0.90469	.	0.036250	0.85682	D	0.000000	D	0.97657	0.9232	.	.	.	0.44780	D	0.997785	D;P;D	0.69078	0.997;0.908;0.997	D;D;D	0.79784	0.993;0.922;0.993	D	0.97041	0.9757	8	.	.	.	.	20.0174	0.97485	0.0:1.0:0.0:0.0	.	1;1;1	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	I	1	ENSP00000335106:M1I;ENSP00000335180:M1I;ENSP00000356381:M1I;ENSP00000390322:M1I	.	M	-	3	0	KATNA1	150001374	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.482000	0.81143	2.730000	0.93505	0.650000	0.86243	ATG		0.333	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2		NM_007044	Missense_Mutation	27	124	0	0	0	0.005443	0	27	124		
NUP43	348995	broad.mit.edu	37	6	150048189	150048189	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:150048189C>T	ENST00000340413.2	-	8	1135	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	NUP43_ENST00000367404.4_Silent_p.V257V|NUP43_ENST00000460354.2_Silent_p.V353V|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	353					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CCAAAGTGTTCACAGACAGAG	0.398																																						uc003qmz.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1057-1059)GTG>GTA		nucleoporin 43kDa							127.0	115.0	119.0					6																	150048189		2203	4300	6503	SO:0001819	synonymous_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150048189C>T	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.1059G>A	6.37:g.150048189C>T						NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Silent_p.V257V	p.V353V	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	8	1116	-		Ovarian(120;0.0164)	353					B4E2F0|Q9H8S0	Silent	SNP	ENST00000340413.2	37	c.1059G>A	CCDS5218.1																																																																																				0.398	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1		NM_198887		23	21	0	0	0	0.00333	0	23	21		
CCZ1B	221960	broad.mit.edu	37	7	6840699	6840699	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:6840699C>T	ENST00000316731.8	-	14	1845	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	CCZ1B_ENST00000538180.1_Missense_Mutation_p.E282K	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	425						lysosome (GO:0005764)|membrane (GO:0016020)											TCCTCATCTTCATCCACTCTG	0.438																																						uc003sqx.1		NaN																	0					0						c.(1273-1275)GAA>AAA		hypothetical protein LOC221960							69.0	73.0	71.0					7																	6840699		1873	3884	5757	SO:0001583	missense	221960					lysosomal membrane		g.chr7:6840699C>T	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.1273G>A	7.37:g.6840699C>T	ENSP00000314544:p.Glu425Lys					C7orf28B_uc011jxd.1_Missense_Mutation_p.E282K	p.E425K	NM_198097	NP_932765	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)	14	1306	-		Ovarian(82;0.232)	425					A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	c.1273G>A	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375746	0.24857	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	3.15	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61662	-0.7017	5	.	.	.	-22.9359	11.8261	0.52267	0.0:1.0:0.0:0.0	.	.	.	.	K	425;282	.	.	E	-	1	0	C7orf28B	6807224	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	7.357000	0.79456	1.577000	0.49804	0.187000	0.17357	GAA		0.438	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1		NM_198097		20	82	0	0	0	0.004878	0	20	82		
RPA3	6119	broad.mit.edu	37	7	7678736	7678736	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:7678736C>T	ENST00000223129.4	-	6	1310	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	RPA3_ENST00000396682.2_Missense_Mutation_p.E47K|RPA3_ENST00000401447.1_Missense_Mutation_p.E8K|RPA3_ENST00000406109.1_Missense_Mutation_p.E8K	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	47					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TTTTTTCCTTCTCCATCTGAA	0.299								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)	uc003sri.2		NaN																	0				large_intestine(1)	1						c.(139-141)GAA>AAA	Direct_reversal_of_damage|NER	replication protein A3, 14kDa							50.0	50.0	50.0					7																	7678736		2203	4297	6500	SO:0001583	missense	6119				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding	g.chr7:7678736C>T		CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"""replication protein A3 (14kD)"""			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.139G>A	7.37:g.7678736C>T	ENSP00000223129:p.Glu47Lys					RPA3_uc003srh.2_Missense_Mutation_p.E8K	p.E47K	NM_002947	NP_002938	P35244	RFA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)	6	1311	-		Ovarian(82;0.0607)	47					Q549U6	Missense_Mutation	SNP	ENST00000223129.4	37	c.139G>A	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764828	0.90020	.	.	ENSG00000106399	ENST00000223129;ENST00000406109;ENST00000396682;ENST00000401447	.	.	.	4.62	4.62	0.57501	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.047487	0.85682	D	0.000000	T	0.74061	0.3667	M	0.79123	2.44	0.46774	D	0.999194	D	0.53745	0.962	P	0.53490	0.727	T	0.78247	-0.2278	9	0.59425	D	0.04	-9.3473	16.785	0.85572	0.0:1.0:0.0:0.0	.	47	P35244	RFA3_HUMAN	K	47;8;47;8	.	ENSP00000223129:E47K	E	-	1	0	RPA3	7645261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.679000	0.54634	2.551000	0.86045	0.650000	0.86243	GAA		0.299	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2		NM_002947		7	39	0	0	0	0.004482	0	7	39		
RPA3	6119	broad.mit.edu	37	7	7678739	7678739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:7678739C>A	ENST00000223129.4	-	6	1307	c.136G>T	c.(136-138)Gga>Tga	p.G46*	RPA3_ENST00000396682.2_Nonsense_Mutation_p.G46*|RPA3_ENST00000401447.1_Nonsense_Mutation_p.G7*|RPA3_ENST00000406109.1_Nonsense_Mutation_p.G7*	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	46					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		TTTCCTTCTCCATCTGAAAGA	0.299								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)	uc003sri.2		NaN																	0				large_intestine(1)	1						c.(136-138)GGA>TGA	Direct_reversal_of_damage|NER	replication protein A3, 14kDa							49.0	49.0	49.0					7																	7678739		2203	4297	6500	SO:0001587	stop_gained	6119				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding	g.chr7:7678739C>A		CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"""replication protein A3 (14kD)"""			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.136G>T	7.37:g.7678739C>A	ENSP00000223129:p.Gly46*					RPA3_uc003srh.2_Nonsense_Mutation_p.G7*	p.G46*	NM_002947	NP_002938	P35244	RFA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)	6	1308	-		Ovarian(82;0.0607)	46					Q549U6	Nonsense_Mutation	SNP	ENST00000223129.4	37	c.136G>T	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	C	36	5.824106	0.96989	.	.	ENSG00000106399	ENST00000223129;ENST00000406109;ENST00000396682;ENST00000401447	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.7234	16.785	0.85572	0.0:1.0:0.0:0.0	.	.	.	.	X	46;7;46;7	.	ENSP00000223129:G46X	G	-	1	0	RPA3	7645264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.293000	0.65680	2.551000	0.86045	0.650000	0.86243	GGA		0.299	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2		NM_002947		6	39	1	0	1.06961e-07	0.00308	1.1241e-07	6	39		
MALSU1	115416	broad.mit.edu	37	7	23347497	23347497	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:23347497T>C	ENST00000466681.1	+	3	599	c.446T>C	c.(445-447)cTg>cCg	p.L149P		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	149					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											TACAAACACCTGAAATGTAAA	0.418																																						uc003swd.1		NaN																	0					0						c.(445-447)CTG>CCG		hypothetical protein LOC115416							209.0	189.0	196.0					7																	23347497		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23347497T>C	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.446T>C	7.37:g.23347497T>C	ENSP00000419370:p.Leu149Pro					C7orf30_uc003swe.2_5'Flank	p.L149P	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		3	478	+			149					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.446T>C	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623997	0.46840	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.04	3.87	0.44632	.	0.090505	0.43416	D	0.000576	T	0.77558	0.4148	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.76353	-0.2990	9	0.45353	T	0.12	-10.2309	7.2898	0.26360	0.1287:0.0726:0.0:0.7987	.	149	Q96EH3	CG030_HUMAN	P	149	.	ENSP00000419370:L149P	L	+	2	0	C7orf30	23314022	0.998000	0.40836	0.982000	0.44146	0.386000	0.30323	2.849000	0.48286	0.863000	0.35553	0.528000	0.53228	CTG		0.418	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2		NM_138446		3	79	0	0	0	0.004672	0	3	79		
AVL9	23080	broad.mit.edu	37	7	32598734	32598734	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:32598734G>A	ENST00000318709.4	+	10	1094	c.873G>A	c.(871-873)atG>atA	p.M291I	AVL9_ENST00000409301.1_Missense_Mutation_p.M291I|AVL9_ENST00000404479.1_Missense_Mutation_p.M291I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	291					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ATGCTGCCATGAAGACTGAGG	0.463																																						uc003tcv.1		NaN																	0					0						c.(871-873)ATG>ATA		AVL9 homolog (S. cerevisiase)							78.0	71.0	73.0					7																	32598734		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598734G>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.873G>A	7.37:g.32598734G>A	ENSP00000315568:p.Met291Ile					AVL9_uc011kai.1_Missense_Mutation_p.M291I|AVL9_uc010kwj.1_Missense_Mutation_p.M132I	p.M291I	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			10	1019	+			291					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.873G>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	2.806	-0.248104	0.05867	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.41400	1.03;1.04;1.01;1.0	5.31	1.28	0.21552	.	0.929600	0.09098	N	0.848881	T	0.25457	0.0619	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21861	-1.0233	10	0.33940	T	0.23	0.2019	5.7722	0.18259	0.1994:0.5284:0.2057:0.0665	.	291;291;291	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	I	291;291;291;291;222	ENSP00000315568:M291I;ENSP00000387011:M291I;ENSP00000385242:M291I;ENSP00000395134:M222I	ENSP00000315568:M291I	M	+	3	0	AVL9	32565259	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.896000	0.04114	0.377000	0.24735	-0.340000	0.08031	ATG		0.463	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1		NM_015060		10	18	0	0	0	0.010729	0	10	18		
RP9	6100	broad.mit.edu	37	7	33136118	33136118	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:33136118C>G	ENST00000297157.3	-	5	471	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	152	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ACGTCCTTTTCATGTCGTTTA	0.383																																						uc003tdm.2		NaN																	0					0						c.(454-456)GAA>CAA		retinitis pigmentosa 9							262.0	217.0	232.0					7																	33136118		2203	4300	6503	SO:0001583	missense	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33136118C>G	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.454G>C	7.37:g.33136118C>G	ENSP00000297157:p.Glu152Gln						p.E152Q	NM_203288	NP_976033	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		5	472	-			152			PIM1-binding (By similarity).			Missense_Mutation	SNP	ENST00000297157.3	37	c.454G>C	CCDS5440.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216131	0.79352	.	.	ENSG00000164610	ENST00000297157;ENST00000448915	D;D	0.84944	-1.6;-1.92	3.66	3.66	0.41972	.	0.112740	0.64402	D	0.000017	D	0.90772	0.7103	M	0.71036	2.16	0.54753	D	0.999983	D	0.76494	0.999	D	0.71414	0.973	D	0.91979	0.5593	10	0.72032	D	0.01	-20.2194	14.3959	0.67010	0.0:1.0:0.0:0.0	.	152	Q8TA86	RP9_HUMAN	Q	152;118	ENSP00000297157:E152Q;ENSP00000411577:E118Q	ENSP00000297157:E152Q	E	-	1	0	RP9	33102643	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.183000	0.72002	1.980000	0.57719	0.508000	0.49915	GAA		0.383	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1		NM_203288		11	41	0	0	0	0.013537	0	11	41		
ABCA13	154664	broad.mit.edu	37	7	48318168	48318168	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:48318168T>C	ENST00000435803.1	+	18	7401	c.7377T>C	c.(7375-7377)ttT>ttC	p.F2459F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2459					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTTTTCTTTATAAATAATT	0.343																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(7375-7377)TTT>TTC		ATP binding cassette, sub-family A (ABC1),							85.0	87.0	86.0					7																	48318168		1807	4066	5873	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318168T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7377T>C	7.37:g.48318168T>C						ABCA13_uc010kys.1_5'Flank	p.F2459F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	7402	+			2459					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.7377T>C	CCDS47584.1																																																																																				0.343	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		48	79	0	0	0	0.01441	0	48	79		
POM121L12	285877	broad.mit.edu	37	7	53103750	53103750	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:53103750A>G	ENST00000408890.4	+	1	402	c.386A>G	c.(385-387)aAc>aGc	p.N129S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	129										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGTGCCTGGAACCCAGGACGG	0.711																																						uc003tpz.2		NaN																	0					0						c.(385-387)AAC>AGC		POM121 membrane glycoprotein-like 12							29.0	34.0	33.0					7																	53103750		1978	4135	6113	SO:0001583	missense	285877							g.chr7:53103750A>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.386A>G	7.37:g.53103750A>G	ENSP00000386133:p.Asn129Ser						p.N129S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	402	+			129					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.386A>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761274	0.31137	.	.	ENSG00000221900	ENST00000408890	T	0.32023	1.47	1.84	1.84	0.25277	.	.	.	.	.	T	0.24624	0.0597	N	0.14661	0.345	0.09310	N	1	P	0.52061	0.95	P	0.51945	0.685	T	0.07501	-1.0769	9	0.66056	D	0.02	.	5.7329	0.18051	1.0:0.0:0.0:0.0	.	129	Q8N7R1	P1L12_HUMAN	S	129	ENSP00000386133:N129S	ENSP00000386133:N129S	N	+	2	0	POM121L12	53071244	0.000000	0.05858	0.025000	0.17156	0.008000	0.06430	-0.145000	0.10265	1.128000	0.42052	0.379000	0.24179	AAC		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1		NM_182595		20	33	0	0	0	0.00333	0	20	33		
ZNF479	90827	broad.mit.edu	37	7	57188660	57188660	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:57188660G>A	ENST00000331162.4	-	5	732	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N154K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATATTTTGTTTTGGGTAG	0.289																																						uc010kzo.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(460-462)AAC>AAT		zinc finger protein 479							51.0	49.0	50.0					7																	57188660		1824	4073	5897	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188660G>A	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.462C>T	7.37:g.57188660G>A							p.N154N	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	733	-			154						Silent	SNP	ENST00000331162.4	37	c.462C>T	CCDS43590.1																																																																																				0.289	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		XM_291202		21	49	0	0	0	0.003954	0	21	49		
WBSCR28	135886	broad.mit.edu	37	7	73275587	73275587	+	Silent	SNP	C	C	G	rs375858400		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:73275587C>G	ENST00000320531.2	+	1	99	c.63C>G	c.(61-63)ctC>ctG	p.L21L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	21						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TTACGAGGCTCTCAGTGCTGG	0.642																																						uc003tzk.2		NaN																	0				breast(1)	1						c.(61-63)CTC>CTG		hypothetical protein LOC135886							44.0	42.0	42.0					7																	73275587		1869	4098	5967	SO:0001819	synonymous_variant	135886					integral to membrane		g.chr7:73275587C>G	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.63C>G	7.37:g.73275587C>G						RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	p.L21L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			1	99	+		Lung NSC(55;0.159)	21					Q6UE04|Q8NHP4	Silent	SNP	ENST00000320531.2	37	c.63C>G	CCDS43597.1																																																																																				0.642	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1		NM_182504		12	20	0	0	0	0.010729	0	12	20		
HGF	3082	broad.mit.edu	37	7	81355231	81355231	+	Silent	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:81355231T>C	ENST00000222390.5	-	9	1369	c.1143A>G	c.(1141-1143)ccA>ccG	p.P381P	HGF_ENST00000457544.2_Silent_p.P376P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	381	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TATCACAGTTTGGAATTTGGG	0.448																																						uc003uhl.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1141-1143)CCA>CCG		hepatocyte growth factor isoform 1							158.0	144.0	149.0					7																	81355231		2203	4300	6503	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81355231T>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1143A>G	7.37:g.81355231T>C						HGF_uc003uhm.2_Silent_p.P376P	p.P381P	NM_000601	NP_000592	P14210	HGF_HUMAN			9	1308	-			381			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.1143A>G	CCDS5597.1																																																																																				0.448	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2		NM_000601		14	79	0	0	0	0.00245	0	14	79		
CROT	54677	broad.mit.edu	37	7	86988563	86988563	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:86988563G>A	ENST00000331536.3	+	4	342	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	CROT_ENST00000442291.1_Missense_Mutation_p.E53K|CROT_ENST00000412227.2_Missense_Mutation_p.E53K|CROT_ENST00000419147.2_Missense_Mutation_p.E81K	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	53					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAAACTGAAGAAATAGTTCA	0.308																																						uc003uit.2		NaN																	0				ovary(2)|lung(1)	3						c.(157-159)GAA>AAA		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						59.0	69.0	66.0					7																	86988563		2201	4286	6487	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86988563G>A		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.157G>A	7.37:g.86988563G>A	ENSP00000331981:p.Glu53Lys					CROT_uc003uis.3_Missense_Mutation_p.E53K|CROT_uc003uiu.2_Missense_Mutation_p.E81K	p.E53K	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			4	402	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		53					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.157G>A	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	7.748	0.702716	0.15172	.	.	ENSG00000005469	ENST00000419147;ENST00000412227;ENST00000331536;ENST00000442291	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.78	5.78	0.91487	.	0.330340	0.36338	N	0.002658	T	0.79724	0.4495	N	0.20766	0.605	0.37038	D	0.897008	B;B;B	0.25206	0.12;0.021;0.001	B;B;B	0.24394	0.053;0.021;0.007	T	0.74993	-0.3474	10	0.06236	T	0.91	-13.2778	15.8144	0.78589	0.0:0.1352:0.8648:0.0	.	81;53;53	E7EQF2;Q9UKG9;Q86V17	.;OCTC_HUMAN;.	K	81;53;53;53	ENSP00000413575:E81K;ENSP00000404867:E53K;ENSP00000331981:E53K;ENSP00000411983:E53K	ENSP00000331981:E53K	E	+	1	0	CROT	86826499	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	4.235000	0.58666	2.894000	0.99253	0.591000	0.81541	GAA		0.308	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1		NM_021151		8	41	0	0	0	0.00308	0	8	41		
AKAP9	10142	broad.mit.edu	37	7	91631551	91631551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:91631551G>A	ENST00000359028.2	+	9	2581	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E774K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E786K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	786	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCACAACTTGAAGCAGAGAA	0.303			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(2320-2322)GAA>AAA		A-kinase anchor protein 9 isoform 2							62.0	68.0	66.0					7																	91631551		2200	4298	6498	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631551G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2356G>A	7.37:g.91631551G>A	ENSP00000351922:p.Glu786Lys					AKAP9_uc003ule.2_Missense_Mutation_p.E786K|AKAP9_uc003ulf.2_Missense_Mutation_p.E774K|AKAP9_uc003uli.2_Missense_Mutation_p.E399K	p.E774K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	2545	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		786			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2320G>A		.	.	.	.	.	.	.	.	.	.	G	11.93	1.784844	0.31593	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.04083	3.72;3.72;3.71	5.77	5.77	0.91146	.	0.349867	0.20878	N	0.084049	T	0.15176	0.0366	L	0.45581	1.43	0.33390	D	0.576061	B;B;B;D	0.71674	0.296;0.42;0.383;0.998	B;B;B;D	0.71184	0.068;0.143;0.066;0.972	T	0.01156	-1.1434	10	0.62326	D	0.03	.	13.5594	0.61779	0.0711:0.0:0.9289:0.0	.	786;774;774;786	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	774;786;786;786;786	ENSP00000348573:E774K;ENSP00000351922:E786K;ENSP00000350813:E786K	ENSP00000348573:E774K	E	+	1	0	AKAP9	91469487	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	5.843000	0.69424	2.885000	0.99019	0.655000	0.94253	GAA		0.303	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		12	68	0	0	0	0.013537	0	12	68		
CYP3A7	1551	broad.mit.edu	37	7	99312307	99312307	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:99312307T>C	ENST00000336374.2	-	8	673		c.e8-2		AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GAAAGACTTCTGTAGAAAAAA	0.303																																						uc003uru.2		NaN																	0				ovary(1)	1						c.e8-1		cytochrome P450, family 3, subfamily A,							64.0	69.0	67.0					7																	99312307		2200	4295	6495	SO:0001630	splice_region_variant	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99312307T>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.671-2A>G	7.37:g.99312307T>C						ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.K224_splice	NM_000765	NP_000756	P24462	CP3A7_HUMAN			8	776	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)							A4D288|Q9H241	Splice_Site	SNP	ENST00000336374.2	37	c.671_splice	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.771494	0.31320	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3468	0.49565	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYP3A7	99150243	1.000000	0.71417	0.015000	0.15790	0.003000	0.03518	6.080000	0.71299	1.613000	0.50231	0.459000	0.35465	.		0.303	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			Intron	25	54	0	0	0	0.003954	0	25	54		
GIGYF1	64599	broad.mit.edu	37	7	100285422	100285422	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:100285422C>T	ENST00000275732.5	-	3	1459	c.250G>A	c.(250-252)Gag>Aag	p.E84K	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	84					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGTTCCTCCTCAGTCAGCGGC	0.687																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(250-252)GAG>AAG		PERQ amino acid rich, with GYF domain 1							39.0	45.0	43.0					7																	100285422		2201	4294	6495	SO:0001583	missense	64599							g.chr7:100285422C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.250G>A	7.37:g.100285422C>T	ENSP00000275732:p.Glu84Lys						p.E84K	NM_022574	NP_072096	O75420	PERQ1_HUMAN			3	1259	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		84					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.250G>A	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	37	5.985024	0.97173	.	.	ENSG00000146830	ENST00000275732	D	0.91011	-2.77	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95439	0.8519	M	0.85945	2.785	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.95602	0.8664	10	0.59425	D	0.04	-31.4179	15.8586	0.79005	0.0:1.0:0.0:0.0	.	84	O75420	PERQ1_HUMAN	K	84	ENSP00000275732:E84K	ENSP00000275732:E84K	E	-	1	0	GIGYF1	100123358	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.340000	0.79292	2.597000	0.87782	0.563000	0.77884	GAG		0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		23	62	0	0	0	0.005443	0	23	62		
RELN	5649	broad.mit.edu	37	7	103194142	103194142	+	Missense_Mutation	SNP	G	G	C	rs141509094		TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:103194142G>C	ENST00000428762.1	-	39	6093	c.5934C>G	c.(5932-5934)atC>atG	p.I1978M	RELN_ENST00000424685.2_Missense_Mutation_p.I1978M|RELN_ENST00000343529.5_Missense_Mutation_p.I1978M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1978					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATAAAGACCGATGTTACCAC	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NaN																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5932-5934)ATC>ATG		reelin isoform a							122.0	110.0	114.0					7																	103194142		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103194142G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5934C>G	7.37:g.103194142G>C	ENSP00000392423:p.Ile1978Met					RELN_uc010liz.2_Missense_Mutation_p.I1978M	p.I1978M	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	39	6094	-			1978					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5934C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771867	0.49680	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.24350	1.86;1.86;1.86	6.07	1.95	0.26073	Neuraminidase (1);	0.049188	0.85682	D	0.000000	T	0.32194	0.0821	L	0.36672	1.1	0.38857	D	0.9564	D;D	0.63046	0.966;0.992	P;D	0.66497	0.902;0.944	T	0.11131	-1.0600	10	0.72032	D	0.01	.	5.199	0.15254	0.6454:0.0:0.2355:0.1191	.	1978;1978	P78509-2;P78509	.;RELN_HUMAN	M	1978	ENSP00000392423:I1978M;ENSP00000345694:I1978M;ENSP00000388446:I1978M	ENSP00000345694:I1978M	I	-	3	3	RELN	102981378	0.910000	0.30920	0.997000	0.53966	0.993000	0.82548	0.128000	0.15810	-0.133000	0.11537	-0.254000	0.11334	ATC		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045		14	24	0	0	0	0.003163	0	14	24		
PTN	5764	broad.mit.edu	37	7	136935980	136935980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:136935980G>A	ENST00000348225.2	-	4	875	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	PTN_ENST00000393083.2_Nonsense_Mutation_p.Q150*	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	150					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GACTTACCTTGAGGTTTGGGC	0.458																																						uc003vtq.2		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(448-450)CAA>TAA		pleiotrophin							233.0	215.0	221.0					7																	136935980		2203	4300	6503	SO:0001587	stop_gained	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136935980G>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.448C>T	7.37:g.136935980G>A	ENSP00000341170:p.Gln150*					PTN_uc010lmx.2_Nonsense_Mutation_p.Q150*|PTN_uc003vtr.1_Nonsense_Mutation_p.Q150*	p.Q150*	NM_002825	NP_002816	P21246	PTN_HUMAN			4	811	-			150					Q5U0B0|Q6ICQ5|Q9UCC6	Nonsense_Mutation	SNP	ENST00000348225.2	37	c.448C>T	CCDS5844.1	.	.	.	.	.	.	.	.	.	.	G	39	7.457246	0.98296	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	6.02	6.02	0.97574	.	0.164637	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	15.2754	0.73737	0.0:0.0:0.8599:0.1401	.	.	.	.	X	150	.	ENSP00000341170:Q150X	Q	-	1	0	PTN	136586520	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.586000	0.82596	2.857000	0.98124	0.650000	0.86243	CAA		0.458	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1		NM_002825		45	125	0	0	0	0.01441	0	45	125		
DENND2A	27147	broad.mit.edu	37	7	140301532	140301532	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:140301532C>T	ENST00000275884.6	-	2	1083	c.666G>A	c.(664-666)ctG>ctA	p.L222L	DENND2A_ENST00000496613.1_Silent_p.L222L|DENND2A_ENST00000492720.1_Silent_p.L222L|DENND2A_ENST00000537639.1_Silent_p.L222L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	222					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTGCCTTCCAGGTCCGAGG	0.637																																						uc010lnj.2		NaN																	0				ovary(3)|breast(1)	4						c.(664-666)CTG>CTA		DENN/MADD domain containing 2A							84.0	85.0	85.0					7																	140301532		1910	4126	6036	SO:0001819	synonymous_variant	27147							g.chr7:140301532C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.666G>A	7.37:g.140301532C>T						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.L222L|DENND2A_uc003vvw.2_Silent_p.L222L|DENND2A_uc003vvx.2_Silent_p.L222L	p.L222L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			1	811	-	Melanoma(164;0.00956)		222					C9JUI3|Q1RMD5|Q86XY0	Silent	SNP	ENST00000275884.6	37	c.666G>A	CCDS43659.1																																																																																				0.637	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1		NM_015689		50	130	0	0	0	0.01441	0	50	130		
SSPO	23145	broad.mit.edu	37	7	149476138	149476138	+	RNA	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:149476138G>C	ENST00000378016.2	+	0	1016							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCCAGGCGGAGGGCTGGCC	0.637																																						uc010lpk.2		NaN																	0					0						c.(1015-1017)GGA>GCA		SCO-spondin precursor							45.0	51.0	49.0					7																	149476138		1939	4131	6070			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149476138G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149476138G>C						SSPO_uc010lpl.1_Intron	p.G339A	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		8	1016	+	Melanoma(164;0.165)|Ovarian(565;0.177)		339			VWFD 1.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1016G>C																																																																																					0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					12	23	0	0	0	0.013537	0	12	23		
RP1L1	94137	broad.mit.edu	37	8	10466760	10466760	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:10466760G>A	ENST00000382483.3	-	4	5071	c.4848C>T	c.(4846-4848)ctC>ctT	p.L1616L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1696					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAAGGCCGAGAGGTTTCGCA	0.706																																						uc003wtc.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4846-4848)CTC>CTT		retinitis pigmentosa 1-like 1							14.0	18.0	17.0					8																	10466760		1961	4145	6106	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10466760G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4848C>T	8.37:g.10466760G>A							p.L1616L	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5077	-			1616					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.4848C>T	CCDS43708.1																																																																																				0.706	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1				13	12	0	0	0	0.001855	0	13	12		
PCM1	5108	broad.mit.edu	37	8	17813004	17813004	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:17813004G>C	ENST00000519253.1	+	10	1565	c.1314G>C	c.(1312-1314)caG>caC	p.Q438H	PCM1_ENST00000518537.1_Missense_Mutation_p.Q477H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q438H|PCM1_ENST00000325083.8_Missense_Mutation_p.Q438H			Q15154	PCM1_HUMAN	pericentriolar material 1	438					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGTCGATCAGAGAAGTACTT	0.433			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3		NaN		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(1312-1314)CAG>CAC		pericentriolar material 1							82.0	74.0	76.0					8																	17813004		1934	4129	6063	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17813004G>C		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1314G>C	8.37:g.17813004G>C	ENSP00000431099:p.Gln438His					PCM1_uc011kyh.1_Missense_Mutation_p.Q438H|PCM1_uc003wyj.3_Missense_Mutation_p.Q438H|PCM1_uc003wyh.2_Missense_Mutation_p.Q477H|PCM1_uc010lta.1_Missense_Mutation_p.Q477H	p.Q438H	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	10	1736	+			438					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1314G>C		.	.	.	.	.	.	.	.	.	.	G	16.41	3.115801	0.56505	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.28666	3.44;2.54;1.6;3.45;3.2	5.04	0.983	0.19767	.	0.138557	0.49916	D	0.000140	T	0.39306	0.1073	M	0.62723	1.935	0.80722	D	1	P;P;P;P	0.42337	0.731;0.776;0.693;0.731	B;P;P;B	0.51079	0.444;0.526;0.658;0.444	T	0.15321	-1.0441	10	0.54805	T	0.06	-5.0769	9.5774	0.39465	0.4763:0.0:0.5237:0.0	.	438;477;438;438	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	H	438;477;477;477;438;438	ENSP00000327077:Q438H;ENSP00000428131:Q477H;ENSP00000428123:Q477H;ENSP00000431099:Q438H;ENSP00000430521:Q438H	ENSP00000327077:Q438H	Q	+	3	2	PCM1	17857284	0.999000	0.42202	0.998000	0.56505	0.964000	0.63967	0.315000	0.19451	0.041000	0.15688	-0.137000	0.14449	CAG		0.433	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1		NM_006197		6	6	0	0	0	0.001168	0	6	6		
TRPA1	8989	broad.mit.edu	37	8	72987642	72987642	+	Start_Codon_SNP	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:72987642C>T	ENST00000262209.4	-	1	210	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GGCTGCGCTTCATTGACCCCA	0.657																																						uc003xza.2		NaN																	0				ovary(4)|lung(1)|kidney(1)	6						c.(1-3)ATG>ATA		ankyrin-like protein 1	Menthol(DB00825)						63.0	65.0	64.0					8																	72987642		2203	4300	6503	SO:0001582	initiator_codon_variant	8989					integral to plasma membrane		g.chr8:72987642C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3G>A	8.37:g.72987642C>T	ENSP00000262209:p.Met1Ile						p.M1I	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		1	178	-			1			Cytoplasmic (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.3G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640050	0.67244	.	.	ENSG00000104321	ENST00000262209	T	0.39056	1.1	4.58	4.58	0.56647	.	0.155857	0.46758	D	0.000270	T	0.62938	0.2469	.	.	.	0.26493	N	0.974903	D	0.63880	0.993	D	0.70227	0.968	T	0.58381	-0.7646	9	0.87932	D	0	-15.0518	15.6662	0.77230	0.0:1.0:0.0:0.0	.	1	O75762	TRPA1_HUMAN	I	1	ENSP00000262209:M1I	ENSP00000262209:M1I	M	-	3	0	TRPA1	73150196	1.000000	0.71417	0.997000	0.53966	0.224000	0.24922	3.490000	0.53245	2.531000	0.85337	0.591000	0.81541	ATG		0.657	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2		NM_007332	Missense_Mutation	49	54	0	0	0	0.01441	0	49	54		
COL14A1	7373	broad.mit.edu	37	8	121170472	121170472	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:121170472G>A	ENST00000297848.3	+	3	462	c.192G>A	c.(190-192)gtG>gtA	p.V64V	COL14A1_ENST00000309791.4_Silent_p.V64V|COL14A1_ENST00000537875.1_Silent_p.V64V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V64V	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCTTGTGACTCCAACTT	0.368																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(190-192)GTG>GTA		collagen, type XIV, alpha 1 precursor							66.0	66.0	66.0					8																	121170472		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121170472G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.192G>A	8.37:g.121170472G>A							p.V64V	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		3	457	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		64			Fibronectin type-III 1.			Silent	SNP	ENST00000297848.3	37	c.192G>A	CCDS34938.1																																																																																				0.368	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110		8	42	0	0	0	0.004482	0	8	42		
FER1L6	654463	broad.mit.edu	37	8	125035748	125035748	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:125035748C>T	ENST00000522917.1	+	18	2404	c.2198C>T	c.(2197-2199)gCc>gTc	p.A733V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A733V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	733						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTGGCCTATGCCCGCATCGCC	0.527																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2197-2199)GCC>GTC		fer-1-like 6							104.0	107.0	106.0					8																	125035748		1985	4170	6155	SO:0001583	missense	654463					integral to membrane		g.chr8:125035748C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2198C>T	8.37:g.125035748C>T	ENSP00000428280:p.Ala733Val					uc003yqx.1_Intron	p.A733V	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2404	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		733			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.2198C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671413	0.67814	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.72282	-0.64;-0.64	5.81	3.99	0.46301	Ferlin B-domain (1);	0.275246	0.28600	U	0.014762	T	0.61924	0.2386	L	0.43701	1.375	0.58432	D	0.999997	B	0.14012	0.009	B	0.17979	0.02	T	0.60321	-0.7286	10	0.45353	T	0.12	.	12.0667	0.53592	0.0:0.8726:0.0:0.1274	.	733	Q2WGJ9	FR1L6_HUMAN	V	733	ENSP00000428280:A733V;ENSP00000381982:A733V	ENSP00000381982:A733V	A	+	2	0	FER1L6	125104929	0.968000	0.33430	1.000000	0.80357	0.959000	0.62525	2.194000	0.42668	2.751000	0.94390	0.555000	0.69702	GCC		0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		4	100	0	0	0	0.001168	0	4	100		
TG	7038	broad.mit.edu	37	8	134145801	134145801	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:134145801G>C	ENST00000220616.4	+	47	8125	c.8085G>C	c.(8083-8085)gaG>gaC	p.E2695D	TG_ENST00000377869.1_Missense_Mutation_p.E2638D|TG_ENST00000542445.1_Missense_Mutation_p.E1065D|TG_ENST00000519543.1_Missense_Mutation_p.E828D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2695					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGGTGGAGAGAACTACAAGG	0.522																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8083-8085)GAG>GAC		thyroglobulin precursor							116.0	108.0	111.0					8																	134145801		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134145801G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8085G>C	8.37:g.134145801G>C	ENSP00000220616:p.Glu2695Asp					TG_uc010mdw.2_Missense_Mutation_p.E1454D|TG_uc011ljb.1_Missense_Mutation_p.E1064D|TG_uc011ljc.1_Missense_Mutation_p.E828D	p.E2695D	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	47	8126	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2695					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8085G>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.716|3.716	-0.058511|-0.058511	0.07317|0.07317	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|T	0.58506|0.58797	0.33;0.33;0.33;0.33;0.9|0.31	4.84|4.84	1.7|1.7	0.24286|0.24286	Carboxylesterase, type B (1);|.	0.539422|0.539422	0.16936|0.16936	N|N	0.193468|0.193468	T|T	0.51312|0.51312	0.1667|0.1667	L|L	0.41710|0.41710	1.295|1.295	0.09310|0.09310	N|N	1|1	B;B;B|.	0.16603|.	0.007;0.008;0.018|.	B;B;B|.	0.22386|.	0.01;0.015;0.039|.	T|T	0.43032|0.43032	-0.9416|-0.9416	10|8	0.20046|0.40728	T|T	0.44|0.16	.|.	9.5902|9.5902	0.39541|0.39541	0.0:0.4018:0.4585:0.1397|0.0:0.4018:0.4585:0.1397	.|.	828;1065;2695|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	D|Q	2638;1501;2695;814;1065;828;99|1151	ENSP00000367100:E2638D;ENSP00000220616:E2695D;ENSP00000441693:E1065D;ENSP00000430430:E828D;ENSP00000430161:E99D|ENSP00000430523:E1151Q	ENSP00000220616:E2695D|ENSP00000430523:E1151Q	E|E	+|+	3|1	2|0	TG|TG	134214983|134214983	1.000000|1.000000	0.71417|0.71417	0.318000|0.318000	0.25279|0.25279	0.236000|0.236000	0.25371|0.25371	0.765000|0.765000	0.26546|0.26546	0.496000|0.496000	0.27904|0.27904	0.561000|0.561000	0.74099|0.74099	GAG|GAA		0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		37	54	0	0	0	0.003755	0	37	54		
SLC45A4	57210	broad.mit.edu	37	8	142228412	142228412	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:142228412C>T	ENST00000024061.3	-	4	1481	c.1174G>A	c.(1174-1176)Gcc>Acc	p.A392T	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A392T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A385T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A443T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACGGCGTTGGCGCGCCGGTAG	0.692																																						uc003ywd.1		NaN																	0				ovary(2)	2						c.(1174-1176)GCC>ACC		solute carrier family 45, member 4							40.0	43.0	42.0					8																	142228412		2202	4298	6500	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228412C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1174G>A	8.37:g.142228412C>T	ENSP00000024061:p.Ala392Thr					SLC45A4_uc003ywc.1_Missense_Mutation_p.A392T|SLC45A4_uc010meq.1_Missense_Mutation_p.A390T	p.A392T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1482	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		443					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1174G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779100	0.70107	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.47	5.47	0.80525	.	0.057608	0.64402	D	0.000002	D	0.89072	0.6611	L	0.52759	1.655	0.58432	D	0.999994	P;D;P	0.53462	0.874;0.96;0.805	B;B;B	0.36989	0.068;0.238;0.144	D	0.89350	0.3660	10	0.41790	T	0.15	-43.7666	19.332	0.94295	0.0:1.0:0.0:0.0	.	443;392;392	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	392;443;385;392	ENSP00000429059:A392T;ENSP00000428137:A443T;ENSP00000400799:A385T;ENSP00000024061:A392T	ENSP00000024061:A392T	A	-	1	0	SLC45A4	142297594	0.996000	0.38824	0.979000	0.43373	0.741000	0.42261	3.419000	0.52728	2.583000	0.87209	0.561000	0.74099	GCC		0.692	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3		XM_050325		5	68	0	0	0	0.000602	0	5	68		
BAI1	575	broad.mit.edu	37	8	143603352	143603352	+	Silent	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:143603352C>T	ENST00000517894.1	+	21	3945	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	BAI1_ENST00000323289.5_Silent_p.F1017F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1017					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCCGCCTTCCTGCACTTCT	0.687																																						uc003ywm.2		NaN																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3049-3051)TTC>TTT		brain-specific angiogenesis inhibitor 1							36.0	43.0	40.0					8																	143603352		2199	4297	6496	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603352C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3051C>T	8.37:g.143603352C>T							p.F1017F	NM_001702	NP_001693	O14514	BAI1_HUMAN			20	3234	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1017			Helical; Name=3; (Potential).			Silent	SNP	ENST00000517894.1	37	c.3051C>T																																																																																					0.687	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3		NM_001702		3	14	0	0	0	0.004672	0	3	14		
ZNF251	90987	broad.mit.edu	37	8	145947781	145947781	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:145947781C>T	ENST00000292562.7	-	5	1539	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	422					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTTACGTGTTCAGTAAGATGA	0.448																																						uc003zdv.3		NaN																	0					0						c.(1264-1266)GAA>AAA		zinc finger protein 251							97.0	108.0	105.0					8																	145947781		2127	4252	6379	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947781C>T	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1264G>A	8.37:g.145947781C>T	ENSP00000292562:p.Glu422Lys						p.E422K	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1520	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		422			C2H2-type 8.		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1264G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594398	0.28445	.	.	ENSG00000198169	ENST00000292562	T	0.08193	3.12	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03739	0.0106	N	0.20304	0.555	0.09310	N	1	P	0.49559	0.925	B	0.38106	0.265	T	0.09530	-1.0670	9	0.06099	T	0.92	-12.0335	6.5547	0.22454	0.0:0.8489:0.0:0.1511	.	422	Q9BRH9	ZN251_HUMAN	K	422	ENSP00000292562:E422K	ENSP00000292562:E422K	E	-	1	0	ZNF251	145918590	0.000000	0.05858	0.655000	0.29622	0.817000	0.46193	-1.444000	0.02403	1.521000	0.48983	0.563000	0.77884	GAA		0.448	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		NM_138367		58	68	0	0	0	0.01441	0	58	68		
DOCK8	81704	broad.mit.edu	37	9	463637	463637	+	Silent	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:463637G>A	ENST00000453981.1	+	47	6301	c.6189G>A	c.(6187-6189)cgG>cgA	p.R2063R	RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000432829.2_Silent_p.R1995R|RP11-165F24.3_ENST00000590518.1_RNA|DOCK8_ENST00000382329.1_Silent_p.R1530R|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000586805.1_RNA|DOCK8_ENST00000469391.1_Silent_p.R1963R|RP11-165F24.3_ENST00000585819.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2063	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGATCGAGCGGAAAATTCCAG	0.458																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.(6187-6189)CGG>CGA		dedicator of cytokinesis 8							58.0	58.0	58.0					9																	463637		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:463637G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.6189G>A	9.37:g.463637G>A						DOCK8_uc010mgu.2_Silent_p.R1365R|DOCK8_uc010mgv.2_Silent_p.R1963R|DOCK8_uc003zgk.2_Silent_p.R1521R	p.R2063R	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	47	6301	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	2063					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.6189G>A	CCDS6440.2																																																																																				0.458	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		5	61	0	0	0	0.010729	0	5	61		
RANBP6	26953	broad.mit.edu	37	9	6015339	6015339	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:6015339G>C	ENST00000259569.5	-	1	279	c.269C>G	c.(268-270)cCt>cGt	p.P90R	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	90					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AACATCAGCAGGCAGATTTGG	0.433																																						uc003zjr.2		NaN																	0				ovary(3)	3						c.(268-270)CCT>CGT		RAN binding protein 6							82.0	84.0	83.0					9																	6015339		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6015339G>C	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.269C>G	9.37:g.6015339G>C	ENSP00000259569:p.Pro90Arg					RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	p.P90R	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	280	-		Acute lymphoblastic leukemia(23;0.158)	90					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.269C>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340085	0.60963	.	.	ENSG00000137040	ENST00000259569	T	0.69306	-0.39	4.39	4.39	0.52855	Armadillo-like helical (1);Armadillo-type fold (1);	0.111021	0.64402	D	0.000009	T	0.68714	0.3031	M	0.67397	2.05	0.52501	D	0.999953	P	0.43973	0.823	P	0.44732	0.459	T	0.71414	-0.4600	10	0.45353	T	0.12	-9.5904	15.272	0.73708	0.0:0.0:1.0:0.0	.	90	O60518	RNBP6_HUMAN	R	90	ENSP00000259569:P90R	ENSP00000259569:P90R	P	-	2	0	RANBP6	6005339	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.433000	0.80362	2.733000	0.93635	0.561000	0.74099	CCT		0.433	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1		NM_012416		41	97	0	0	0	0.00874	0	41	97		
DENND4C	55667	broad.mit.edu	37	9	19324474	19324474	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:19324474G>A	ENST00000380432.2	+	9	1247	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	DENND4C_ENST00000602925.1_Missense_Mutation_p.G641E|DENND4C_ENST00000434457.2_Missense_Mutation_p.G641E			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	405					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAGATACTGGATTAGCATTT	0.303																																						uc003znq.2		NaN																	0				ovary(1)|skin(1)	2						c.(1213-1215)GGA>GAA		DENN/MADD domain containing 4C							88.0	97.0	94.0					9																	19324474		2201	4295	6496	SO:0001583	missense	55667					integral to membrane		g.chr9:19324474G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1214G>A	9.37:g.19324474G>A	ENSP00000369797:p.Gly405Glu					DENND4C_uc011lnc.1_Intron	p.G405E	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			9	1247	+			405					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1214G>A		.	.	.	.	.	.	.	.	.	.	G	18.28	3.589374	0.66105	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.66	4.66	0.58398	.	0.215885	0.47852	D	0.000219	T	0.62660	0.2446	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.48368	0.575	T	0.68534	-0.5383	9	0.62326	D	0.03	-19.2028	18.0849	0.89454	0.0:0.0:1.0:0.0	.	405	Q5VZ89	DEN4C_HUMAN	E	405	.	ENSP00000369802:G405E	G	+	2	0	DENND4C	19314474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.576000	0.86940	0.591000	0.81541	GGA		0.303	DENND4C-201	KNOWN	basic	protein_coding	protein_coding			NM_017925		83	251	0	0	0	0.01441	0	83	251		
FOXB2	442425	broad.mit.edu	37	9	79634833	79634833	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:79634833C>T	ENST00000376708.1	+	1	263	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	88					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)|lung(8)|ovary(1)	10						AGCTTCTGGGCGCTGCACCCC	0.642																																						uc004ako.1		NaN																	0					0						c.(262-264)GCG>GTG		forkhead box B2							46.0	49.0	48.0					9																	79634833		2203	4300	6503	SO:0001583	missense	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634833C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.263C>T	9.37:g.79634833C>T	ENSP00000365898:p.Ala88Val						p.A88V	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	263	+			88			Fork-head.			Missense_Mutation	SNP	ENST00000376708.1	37	c.263C>T	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202089	0.79127	.	.	ENSG00000204612	ENST00000376708	D	0.95412	-3.7	4.47	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97820	1.0256	10	0.87932	D	0	.	17.1266	0.86716	0.0:1.0:0.0:0.0	.	88	Q5VYV0	FOXB2_HUMAN	V	88	ENSP00000365898:A88V	ENSP00000365898:A88V	A	+	2	0	FOXB2	78824653	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.636000	0.83301	2.034000	0.60081	0.462000	0.41574	GCG		0.642	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1		NM_001013735		55	14	0	0	0	0.01441	0	55	14		
PTCH1	5727	broad.mit.edu	37	9	98229643	98229643	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:98229643C>T	ENST00000331920.6	-	15	2614	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	PTCH1_ENST00000437951.1_Missense_Mutation_p.R706K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R621K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R771K|PTCH1_ENST00000430669.2_Missense_Mutation_p.R706K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R621K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R621K	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	772					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V770fs(4)|p.V771fs(4)|p.D773fs*16(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGCCCGTCTCTCACTCGGGT	0.478																																						uc004avk.3		NaN																	9	Complex(8)|Complex - frameshift(1)		central_nervous_system(9)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(2314-2316)AGA>AAA		patched isoform L							81.0	82.0	82.0					9																	98229643		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98229643C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2315G>A	9.37:g.98229643C>T	ENSP00000332353:p.Arg772Lys					PTCH1_uc010mro.2_Missense_Mutation_p.R621K|PTCH1_uc010mrp.2_Missense_Mutation_p.R621K|PTCH1_uc010mrq.2_Missense_Mutation_p.R621K|PTCH1_uc004avl.3_Missense_Mutation_p.R621K|PTCH1_uc010mrr.2_Missense_Mutation_p.R706K|PTCH1_uc004avm.3_Missense_Mutation_p.R771K	p.R772K	NM_000264	NP_000255	Q13635	PTC1_HUMAN			15	2503	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	772			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2315G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208035	0.79240	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	N	0.13043	0.29	0.80722	D	1	B;P;B	0.41313	0.232;0.745;0.137	B;B;B	0.42522	0.07;0.39;0.115	T	0.75599	-0.3262	10	0.20519	T	0.43	-7.9287	20.1013	0.97878	0.0:1.0:0.0:0.0	.	706;771;772	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	K	772;706;621;621;208;706;621;771	ENSP00000332353:R772K;ENSP00000389744:R706K;ENSP00000399981:R621K;ENSP00000396135:R621K;ENSP00000410287:R706K;ENSP00000414823:R621K;ENSP00000364423:R771K	ENSP00000332353:R772K	R	-	2	0	PTCH1	97269464	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.677000	0.61634	2.748000	0.94277	0.655000	0.94253	AGA		0.478	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		43	16	0	0	0	0.011902	0	43	16		
RXRA	6256	broad.mit.edu	37	9	137293649	137293649	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr9:137293649T>C	ENST00000481739.1	+	2	252	c.200T>C	c.(199-201)gTc>gCc	p.V67A	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	67	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCTTTCTCGGTCATCAGCTCC	0.692																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(199-201)GTC>GCC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						53.0	57.0	55.0					9																	137293649		2203	4299	6502	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137293649T>C	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.200T>C	9.37:g.137293649T>C	ENSP00000419692:p.Val67Ala					RXRA_uc004cfa.1_Silent_p.G117G	p.V67A	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	2	362	+			67			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.200T>C	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653045	0.67472	.	.	ENSG00000186350	ENST00000481739	D	0.92858	-3.12	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	D	0.91446	0.7300	M	0.75264	2.295	0.80722	D	1	B	0.27166	0.17	B	0.33121	0.158	D	0.88749	0.3249	10	0.22109	T	0.4	.	14.2204	0.65823	0.0:0.0:0.0:1.0	.	67	P19793	RXRA_HUMAN	A	67	ENSP00000419692:V67A	ENSP00000419692:V67A	V	+	2	0	RXRA	136433470	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.321000	0.79088	1.762000	0.52044	0.379000	0.24179	GTC		0.692	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		3	117	0	0	0	0.004672	0	3	117		
STS	412	broad.mit.edu	37	X	7268123	7268123	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:7268123G>A	ENST00000217961.4	+	10	1793	c.1573G>A	c.(1573-1575)Gaa>Aaa	p.E525K		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	525					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CCGGTTTTATGAAATCCTCAA	0.498									Ichthyosis																													uc004cry.3		NaN																	0				central_nervous_system(1)	1						c.(1573-1575)GAA>AAA		steryl-sulfatase precursor	Estrone(DB00655)						58.0	54.0	55.0					X																	7268123		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268123G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1573G>A	X.37:g.7268123G>A	ENSP00000217961:p.Glu525Lys						p.E525K	NM_000351	NP_000342	P08842	STS_HUMAN			10	1818	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	525			Lumenal.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1573G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	0.074	-1.196497	0.01594	.	.	ENSG00000101846	ENST00000217961	D	0.94417	-3.42	4.22	4.22	0.49857	Alkaline-phosphatase-like, core domain (1);	0.514845	0.20598	N	0.089213	D	0.90532	0.7033	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.77723	-0.2481	10	0.17832	T	0.49	.	8.672	0.34156	0.1099:0.0:0.8901:0.0	.	525	P08842	STS_HUMAN	K	525	ENSP00000217961:E525K	ENSP00000217961:E525K	E	+	1	0	STS	7278123	1.000000	0.71417	0.009000	0.14445	0.110000	0.19582	4.552000	0.60747	1.720000	0.51447	0.600000	0.82982	GAA		0.498	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1		NM_000351		15	10	0	0	0	0.003163	0	15	10		
TAB3	257397	broad.mit.edu	37	X	30873150	30873150	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:30873150C>G	ENST00000378933.1	-	3	809	c.632G>C	c.(631-633)aGa>aCa	p.R211T	TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.R211T|TAB3_ENST00000378932.2_Missense_Mutation_p.R211T|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.R211T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	211	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAAAGCTCTTGGTACAGT	0.423																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NaN																	0				ovary(1)	1						c.(631-633)AGA>ACA		mitogen-activated protein kinase kinase kinase 7							72.0	65.0	67.0					X																	30873150		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873150C>G	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.632G>C	X.37:g.30873150C>G	ENSP00000368215:p.Arg211Thr					TAB3_uc004dck.2_Missense_Mutation_p.R211T|TAB3_uc010ngl.2_Missense_Mutation_p.R211T	p.R211T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1295	-			211			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.632G>C	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745992	0.30955	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.31	5.31	0.75309	.	0.054056	0.85682	D	0.000000	T	0.57344	0.2047	N	0.12182	0.205	0.42964	D	0.994416	D;P	0.54964	0.969;0.948	P;P	0.53313	0.723;0.533	T	0.55976	-0.8055	10	0.02654	T	1	-3.4317	18.1332	0.89608	0.0:1.0:0.0:0.0	.	211;211	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	T	211	ENSP00000368215:R211T;ENSP00000368212:R211T;ENSP00000288422:R211T;ENSP00000368214:R211T	ENSP00000288422:R211T	R	-	2	0	TAB3	30783071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.208000	0.65203	2.219000	0.72066	0.600000	0.82982	AGA		0.423	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787		18	13	0	0	0	0.006122	0	18	13		
ZMYM3	9203	broad.mit.edu	37	X	70472591	70472591	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:70472591G>A	ENST00000353904.2	-	2	702	c.515C>T	c.(514-516)tCc>tTc	p.S172F	ZMYM3_ENST00000373981.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S172F|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373998.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S172F	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	172					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCCCAGGGGAGCCCCTTCT	0.577																																						uc004dzh.1		NaN																	0				ovary(1)	1						c.(514-516)TCC>TTC		zinc finger protein 261							46.0	38.0	41.0					X																	70472591		2203	4300	6503	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472591G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.515C>T	X.37:g.70472591G>A	ENSP00000343909:p.Ser172Phe					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.S172F|ZMYM3_uc004dzj.1_Missense_Mutation_p.S172F|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Missense_Mutation_p.S172F|ZMYM3_uc004dzl.3_Missense_Mutation_p.S172F|ZMYM3_uc004dzm.3_Missense_Mutation_p.S172F	p.S172F	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			2	602	-	Renal(35;0.156)		172					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.515C>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	10.86	1.469515	0.26423	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.51325	1.35;0.77;1.35;1.35;1.35;0.71;0.71	5.41	5.41	0.78517	.	1.345260	0.04956	N	0.461206	T	0.37019	0.0988	N	0.14661	0.345	0.38492	D	0.947994	B;P;P	0.42620	0.41;0.785;0.679	B;B;B	0.34779	0.146;0.189;0.092	T	0.37502	-0.9703	10	0.66056	D	0.02	-3.0371	16.0709	0.80928	0.0:0.0:1.0:0.0	.	172;172;172	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	F	172	ENSP00000322845:S172F;ENSP00000363110:S172F;ENSP00000343909:S172F;ENSP00000363096:S172F;ENSP00000363100:S172F;ENSP00000363094:S172F;ENSP00000363093:S172F	ENSP00000322845:S172F	S	-	2	0	ZMYM3	70389316	0.995000	0.38212	0.998000	0.56505	0.289000	0.27227	3.470000	0.53100	2.261000	0.74972	0.431000	0.28591	TCC		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1		NM_201599		25	7	0	0	0	0.00632	0	25	7		
NONO	4841	broad.mit.edu	37	X	70514379	70514379	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chrX:70514379G>A	ENST00000276079.8	+	5	855		c.e5+1		NONO_ENST00000490044.1_Splice_Site|NONO_ENST00000373841.1_Splice_Site|NONO_ENST00000535149.1_Splice_Site|NONO_ENST00000373856.3_Splice_Site	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding						circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCTAACCACGTAAGTGAGGG	0.473			T	TFE3	papillary renal cancer																																	uc004dzo.2		NaN		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				ovary(2)|kidney(2)	4						c.e6+1		non-POU domain containing, octamer-binding							34.0	29.0	30.0					X																	70514379		2203	4300	6503	SO:0001630	splice_region_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514379G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.650+1G>A	X.37:g.70514379G>A						BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Splice_Site_p.T217_splice|NONO_uc004dzp.2_Splice_Site_p.T217_splice|NONO_uc011mpv.1_Splice_Site_p.T128_splice|NONO_uc004dzq.2_Splice_Site_p.T86_splice	p.T217_splice	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			6	1360	+	Renal(35;0.156)							B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Splice_Site	SNP	ENST00000276079.8	37	c.650_splice	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	.	19.10	3.761978	0.69763	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000418921	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3063	0.87196	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NONO	70431104	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.990000	0.93510	2.269000	0.75478	0.529000	0.55759	.		0.473	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1		NM_007363	Intron	9	1	0	0	0	0.004482	0	9	1		
SYNC	81493	broad.mit.edu	37	1	33149943	33149943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr1:33149943delC	ENST00000409190.3	-	3	1732	c.1274delG	c.(1273-1275)agafs	p.R425fs	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000373484.3_Frame_Shift_Del_p.R425fs	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	425	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACCCCATTTCTTAACTGCCT	0.443																																						uc001bvt.2		NaN																	0				ovary(1)	1						c.(1273-1275)AGAfs		syncoilin, intermediate filament 1 isoform 1							191.0	170.0	177.0					1																	33149943		2203	4300	6503	SO:0001589	frameshift_variant	81493					intermediate filament|perinuclear region of cytoplasm	structural molecule activity	g.chr1:33149943delC	AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1274delG	1.37:g.33149943delC	ENSP00000386439:p.Arg425fs					SYNC_uc010ohl.1_Frame_Shift_Del_p.R425fs|RBBP4_uc001bvr.2_3'UTR|RBBP4_uc001bvs.2_3'UTR|RBBP4_uc010ohj.1_3'UTR|RBBP4_uc010ohk.1_3'UTR	p.R425fs	NM_030786	NP_110413	Q9H7C4	SYNCI_HUMAN			3	1374	-			425			Coil 2.		B4DNK8|B4DY58|C9IY41	Frame_Shift_Del	DEL	ENST00000409190.3	37	c.1274delG	CCDS367.2																																																																																				0.443	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3		NM_030786		33	112	NaN	NaN	NaN	NaN	NaN	33	112	---	---
KMT2D	8085	broad.mit.edu	37	12	49445896	49445896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr12:49445896delC	ENST00000301067.7	-	10	1569	c.1570delG	c.(1570-1572)gaafs	p.E525fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	525	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTGACTCTTCCGGTGGAGAC	0.597																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1570-1572)GAAfs		myeloid/lymphoid or mixed-lineage leukemia 2							50.0	56.0	54.0					12																	49445896		2065	4200	6265	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445896delC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1570delG	12.37:g.49445896delC	ENSP00000301067:p.Glu525fs	HNSCC(34;0.089)					p.E524fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	1570	-			524			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.|6.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.1570delG	CCDS44873.1																																																																																				0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				17	55	NaN	NaN	NaN	NaN	NaN	17	55	---	---
RBL2	5934	broad.mit.edu	37	16	53488655	53488655	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr16:53488655delG	ENST00000262133.6	+	8	1217	c.1080delG	c.(1078-1080)gagfs	p.E361fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Del_p.E145fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	361					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATGCTGAGGAGGAAATTGGGA	0.428																																						uc002ehi.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1078-1080)GAGfs		retinoblastoma-like 2 (p130)							123.0	120.0	121.0					16																	53488655		2198	4300	6498	SO:0001589	frameshift_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53488655delG	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1080delG	16.37:g.53488655delG	ENSP00000262133:p.Glu361fs					RBL2_uc010vgv.1_Frame_Shift_Del_p.E286fs|RBL2_uc002ehj.2_Frame_Shift_Del_p.E70fs|RBL2_uc010vgw.1_Frame_Shift_Del_p.E144fs	p.E360fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN			8	1198	+			360					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Del	DEL	ENST00000262133.6	37	c.1080delG	CCDS10748.1																																																																																				0.428	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3		NM_005611		29	31	NaN	NaN	NaN	NaN	NaN	29	31	---	---
SMYD4	114826	broad.mit.edu	37	17	1704320	1704321	+	Splice_Site	INS	-	-	C			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:1704320_1704321insC	ENST00000305513.7	-	5	537		c.e5-2			NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4								metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AAGACACGTCTGAAAACAGAAA	0.381																																						uc002ftm.3		NaN																	0				skin(3)|kidney(2)	5						c.e5-1		SET and MYND domain containing 4																																				SO:0001630	splice_region_variant	114826						zinc ion binding	g.chr17:1704320_1704321insC	AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"""Zinc fingers, MYND-type"""	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.370-2->G	17.37:g.1704320_1704321insC						SMYD4_uc002ftn.1_Splice_Site	p.T124_splice	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN			5	538	-								Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Splice_Site	INS	ENST00000305513.7	37	c.370_splice	CCDS11013.1																																																																																				0.381	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207108.4		XM_056082	Intron	36	67	NaN	NaN	NaN	NaN	NaN	36	67	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340475	39340477	+	3'UTR	DEL	TGC	TGC	-	rs200471154|rs3071131|rs10531365|rs397838335	byFrequency	TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr17:39340475_39340477delTGC	ENST00000398472.1	-	0	1117_1119							Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1							keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTCTGAATGCTGCTGGGAAG	0.379														4768	0.952077	0.9395	0.9741	5008	,	,		17570	0.9484		0.9324	False		,,,				2504	0.9775					uc002hwe.3		NaN																	0					0						c.e2+1		keratin associated protein 4-1																																				SO:0001624	3_prime_UTR_variant	85285					keratin filament		g.chr17:39340475_39340477delTGC	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.*191GCA>-	17.37:g.39340478_39340480delTGC								NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		2	613	-		Breast(137;0.000496)						A8MWS7|Q3SYF2	Splice_Site	DEL	ENST00000398472.1	37	c.572_splice																																																																																					0.379	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1		NM_033060		3	3	NaN	NaN	NaN	NaN	NaN	3	3	---	---
NOP56	10528	broad.mit.edu	37	20	2635118	2635118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr20:2635118delG	ENST00000329276.5	+	4	783	c.267delG	c.(265-267)aagfs	p.K90fs	SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORA51_ENST00000606420.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	90					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CCAAAAAGAAGAAAGTACTCT	0.537																																						uc002wgh.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(265-267)AAGfs		nucleolar protein 5A							90.0	87.0	88.0					20																	2635118		2203	4300	6503	SO:0001589	frameshift_variant	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2635118delG	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.267delG	20.37:g.2635118delG	ENSP00000370589:p.Lys90fs					NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	p.K89fs	NM_006392	NP_006383	O00567	NOP56_HUMAN			4	320	+			89					Q2M3T6|Q9NQ05	Frame_Shift_Del	DEL	ENST00000329276.5	37	c.267delG	CCDS13030.1																																																																																				0.537	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2		NM_006392		45	72	NaN	NaN	NaN	NaN	NaN	45	72	---	---
HERC5	51191	broad.mit.edu	37	4	89415386	89415386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr4:89415386delT	ENST00000264350.3	+	18	2501	c.2348delT	c.(2347-2349)gttfs	p.V783fs	HERC5_ENST00000508159.1_Frame_Shift_Del_p.V421fs|AC083829.1_ENST00000408152.2_RNA	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	783	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AATTGCAATGTTGCCAACCTT	0.368																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NaN																	0				ovary(4)|lung(3)|skin(2)	9						c.(2347-2349)GTTfs		hect domain and RLD 5							107.0	112.0	110.0					4																	89415386		2203	4300	6503	SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89415386delT	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2348delT	4.37:g.89415386delT	ENSP00000264350:p.Val783fs					HERC5_uc011cdm.1_Frame_Shift_Del_p.V421fs	p.V783fs	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	18	2501	+		Hepatocellular(203;0.114)	783			HECT.		B2RTQ1|Q69G20	Frame_Shift_Del	DEL	ENST00000264350.3	37	c.2348delT	CCDS3630.1																																																																																				0.368	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2		NM_016323		12	37	NaN	NaN	NaN	NaN	NaN	12	37	---	---
FOXQ1	94234	broad.mit.edu	37	6	1313255	1313256	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr6:1313255_1313256insGC	ENST00000296839.2	+	1	581_582	c.316_317insGC	c.(316-318)ggcfs	p.G106fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	106					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		cgcggggagcggcgagggtgCA	0.782																																						uc003mtl.3		NaN																	0					0						c.(316-318)GGCfs		forkhead box Q1																																				SO:0001589	frameshift_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313255_1313256insGC	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.317_318dupGC	6.37:g.1313256_1313257dupGC	ENSP00000296839:p.Gly106fs						p.G106fs	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	581_582	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	106					Q9NS06	Frame_Shift_Ins	INS	ENST00000296839.2	37	c.316_317insGC	CCDS4471.1																																																																																				0.782	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1		NM_033260		7	11	NaN	NaN	NaN	NaN	NaN	7	11	---	---
HOXA3	3200	broad.mit.edu	37	7	27148001	27148005	+	Frame_Shift_Del	DEL	ACGGG	ACGGG	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr7:27148001_27148005delACGGG	ENST00000396352.4	-	3	1060_1064	c.861_865delCCCGT	c.(859-867)gtcccgtatfs	p.PY288fs	HOXA3_ENST00000317201.2_Frame_Shift_Del_p.PY288fs|HOXA3_ENST00000521401.1_5'Flank|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	288					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P288Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGGGGCTCATACGGGACGCTGTTGA	0.693																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1		NaN																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(859-867)GTCCCGTATfs		homeobox A3 isoform a																																				SO:0001589	frameshift_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148001_27148005delACGGG		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.861_865delCCCGT	7.37:g.27148001_27148005delACGGG	ENSP00000379640:p.Pro288fs					HOXA3_uc011jzk.1_Frame_Shift_Del_p.V129fs|HOXA3_uc003syk.2_Frame_Shift_Del_p.V287fs	p.V287fs	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1061_1065	-			287_289					A4D181	Frame_Shift_Del	DEL	ENST00000396352.4	37	c.861_865delCCCGT	CCDS5404.1																																																																																				0.693	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2				27	57	NaN	NaN	NaN	NaN	NaN	27	57	---	---
SULF1	23213	broad.mit.edu	37	8	70536366	70536366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2EF-01A-12D-A18F-08	TCGA-G2-A2EF-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e	f2ba42d5-03bd-4c43-8480-401ab04f73ac	g.chr8:70536366delG	ENST00000260128.4	+	15	2501	c.1784delG	c.(1783-1785)aggfs	p.R595fs	SULF1_ENST00000402687.4_Frame_Shift_Del_p.R595fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.R595fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.R595fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	595					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGTGGCAACAGGGGCAGGATG	0.512																																						uc010lza.1		NaN																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1783-1785)AGGfs		sulfatase 1 precursor							68.0	60.0	63.0					8																	70536366		2203	4300	6503	SO:0001589	frameshift_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70536366delG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1784delG	8.37:g.70536366delG	ENSP00000260128:p.Arg595fs					SULF1_uc003xyd.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xye.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.R595fs|SULF1_uc003xyh.1_RNA	p.R595fs	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2501	+	Breast(64;0.0654)		595					Q86YV8|Q8NCA2|Q9UPS5	Frame_Shift_Del	DEL	ENST00000260128.4	37	c.1784delG	CCDS6204.1																																																																																				0.512	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170		9	20	NaN	NaN	NaN	NaN	NaN	9	20	---	---
