#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
QSER1	79832	broad.mit.edu	37	11	32997949	32997949	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:32997949G>A	ENST00000399302.2	+	13	5472	c.5137G>A	c.(5137-5139)Gta>Ata	p.V1713I	QSER1_ENST00000527788.1_Missense_Mutation_p.V1474I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1713										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TATGAAAAATGTAAAATGGGT	0.318																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(5137-5139)Gta>Ata		glutamine and serine rich 1							82.0	80.0	81.0					11																	32997949		1803	4063	5866	SO:0001583	missense	79832							g.chr11:32997949G>A	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.5137G>A	11.37:g.32997949G>A	ENSP00000382241:p.Val1713Ile					QSER1_ENST00000527788.1_Missense_Mutation_p.V1474I	p.V1713I	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			13	5472	+	Breast(20;0.158)		1713					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.5137G>A	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	6.084	0.383705	0.11524	.	.	ENSG00000060749	ENST00000399302;ENST00000527788	T;T	0.22743	2.27;1.94	5.78	4.81	0.61882	.	0.256100	0.17353	U	0.177327	T	0.07098	0.0180	N	0.03608	-0.345	0.24902	N	0.992093	B;B	0.16802	0.019;0.005	B;B	0.12156	0.007;0.003	T	0.40156	-0.9578	10	0.09084	T	0.74	.	4.4227	0.11488	0.1819:0.2085:0.6096:0.0	.	1474;1713	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	I	1713;1474	ENSP00000382241:V1713I;ENSP00000432766:V1474I	ENSP00000382241:V1713I	V	+	1	0	QSER1	32954525	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.937000	0.48979	2.744000	0.94065	0.563000	0.77884	GTA		0.318	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		5	56	0	0	0	1	0	5	56				
GLYCTK	132158	broad.mit.edu	37	3	52326966	52326966	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:52326966A>T	ENST00000436784.2	+	5	1456	c.1396A>T	c.(1396-1398)Aca>Tca	p.T466S	GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000477382.1_3'UTR			Q8IVS8	GLCTK_HUMAN	glycerate kinase	466					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGCCTGGGTCACACCTGAGCT	0.617																																						ENST00000436784.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(1396-1398)Aca>Tca		glycerate kinase							78.0	70.0	72.0					3																	52326966		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52326966A>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1396A>T	3.37:g.52326966A>T	ENSP00000389175:p.Thr466Ser					GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000354773.4_3'UTR	p.T466S			Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	5	1456	+			466					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.1396A>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	A	6.655	0.489383	0.12641	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.53857	0.6	5.74	2.01	0.26516	MOFRL domain (2);	0.743246	0.13661	N	0.371594	T	0.30947	0.0781	N	0.21194	0.64	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.17653	-1.0362	9	.	.	.	-1.2433	2.3932	0.04383	0.6124:0.1295:0.1342:0.1239	.	466	Q8IVS8	GLCTK_HUMAN	S	466;400	ENSP00000389175:T466S	.	T	+	1	0	GLYCTK	52302006	0.799000	0.28903	0.004000	0.12327	0.979000	0.70002	3.478000	0.53158	0.107000	0.17824	0.533000	0.62120	ACA		0.617	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		11	22	0	0	0	1	0	11	22				
LRP1B	53353	broad.mit.edu	37	2	141291667	141291667	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:141291667C>T	ENST00000389484.3	-	47	8656	c.7685G>A	c.(7684-7686)cGc>cAc	p.R2562H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2562	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)		AATGCAGCGGCGATTATAGCA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				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						c.(7684-7686)cGc>cAc		low density lipoprotein receptor-related protein 1B							82.0	79.0	80.0					2																	141291667		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291667C>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.7685G>A	2.37:g.141291667C>T	ENSP00000374135:p.Arg2562His	TSP Lung(27;0.18)					p.R2562H	NM_018557.2	NP_061027.2	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)	47	8656	-		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)	2562			LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7685G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132321	0.56828	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.42	4.55	0.56014	.	0.074054	0.52532	U	0.000073	D	0.82440	0.5037	N	0.25144	0.715	0.33989	D	0.648854	B	0.16396	0.017	B	0.15484	0.013	T	0.81389	-0.0955	10	0.38643	T	0.18	.	9.0341	0.36277	0.0:0.7782:0.0:0.2218	.	2562	Q9NZR2	LRP1B_HUMAN	H	2562;2500	ENSP00000374135:R2562H	ENSP00000374135:R2562H	R	-	2	0	LRP1B	141008137	0.237000	0.23815	0.996000	0.52242	0.573000	0.36030	0.763000	0.26517	1.429000	0.47314	0.563000	0.77884	CGC		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	41	0	0	0	1	0	14	41				
SP140	11262	broad.mit.edu	37	2	231112746	231112746	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:231112746G>C	ENST00000392045.3	+	8	972	c.858G>C	c.(856-858)gaG>gaC	p.E286D	SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.E260D|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.E286D	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	286					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAGACAAGGAGAAGTACCAAG	0.507																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(856-858)gaG>gaC		SP140 nuclear body protein							124.0	128.0	127.0					2																	231112746		1979	4146	6125	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231112746G>C	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.858G>C	2.37:g.231112746G>C	ENSP00000375899:p.Glu286Asp					SP140_ENST00000343805.6_Missense_Mutation_p.E260D|SP140_ENST00000350136.5_Intron|SP140_ENST00000417495.3_Intron|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.E286D	p.E286D	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	972	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	286					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.858G>C	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	4.984	0.182779	0.09495	.	.	ENSG00000079263	ENST00000392044;ENST00000392045;ENST00000343805;ENST00000420434	T;T;T	0.64085	0.57;-0.08;0.45	1.73	-0.203	0.13204	.	.	.	.	.	T	0.51193	0.1660	N	0.14661	0.345	0.09310	N	0.999999	B;D;B;D	0.57899	0.024;0.981;0.37;0.968	B;P;B;P	0.55391	0.014;0.775;0.145;0.521	T	0.44329	-0.9335	9	0.28530	T	0.3	.	6.5158	0.22246	0.3134:0.0:0.6866:0.0	.	286;260;286;286	E7EUR5;E9PFJ6;Q13342;E7EX75	.;.;LY10_HUMAN;.	D	286;286;260;286	ENSP00000375899:E286D;ENSP00000342096:E260D;ENSP00000398210:E286D	ENSP00000342096:E260D	E	+	3	2	SP140	230820990	0.002000	0.14202	0.001000	0.08648	0.016000	0.09150	-0.403000	0.07214	-0.428000	0.07339	-1.786000	0.00637	GAG		0.507	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		4	29	0	0	0	1	0	4	29				
PDZRN4	29951	broad.mit.edu	37	12	41900472	41900472	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:41900472C>A	ENST00000402685.2	+	4	1066	c.1058C>A	c.(1057-1059)aCc>aAc	p.T353N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.T95N|PDZRN4_ENST00000298919.7_Missense_Mutation_p.T93N	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	353							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGTCCACCTACCCCTCCAGTG	0.493																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(277-279)aCc>aAc		PDZ domain containing ring finger 4							158.0	133.0	142.0					12																	41900472		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41900472C>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1058C>A	12.37:g.41900472C>A	ENSP00000384197:p.Thr353Asn					PDZRN4_ENST00000402685.2_Missense_Mutation_p.T353N|PDZRN4_ENST00000539469.2_Missense_Mutation_p.T95N	p.T93N			Q6ZMN7	PZRN4_HUMAN			4	666	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	353					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.278C>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736243	0.69189	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73469	-0.75;3.73;3.72	5.08	5.08	0.68730	.	0.402333	0.22988	N	0.053229	D	0.86936	0.6053	M	0.78049	2.395	0.80722	D	1	D;B;B	0.89917	1.0;0.196;0.2	D;B;B	0.80764	0.994;0.317;0.317	D	0.87821	0.2638	10	0.72032	D	0.01	-29.9237	19.3644	0.94456	0.0:1.0:0.0:0.0	.	353;93;95	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	N	353;95;93	ENSP00000384197:T353N;ENSP00000439990:T95N;ENSP00000298919:T93N	ENSP00000298919:T93N	T	+	2	0	PDZRN4	40186739	1.000000	0.71417	0.979000	0.43373	0.705000	0.40729	4.786000	0.62425	2.758000	0.94735	0.563000	0.77884	ACC		0.493	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		6	31	1	0	0.00198382	1	0.00217097	6	31				
GLB1L3	112937	broad.mit.edu	37	11	134151337	134151337	+	Silent	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:134151337G>C	ENST00000431683.2	+	4	429	c.429G>C	c.(427-429)ctG>ctC	p.L143L	GLB1L3_ENST00000389887.5_Silent_p.L143L	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	143					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACCTGGACCTGGAGTATGTGG	0.537																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(427-429)ctG>ctC		galactosidase, beta 1-like 3							215.0	209.0	211.0					11																	134151337		2201	4297	6498	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134151337G>C		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.429G>C	11.37:g.134151337G>C						GLB1L3_ENST00000431683.2_Silent_p.L143L	p.L143L			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	4	2925	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	143					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.429G>C	CCDS44780.1																																																																																				0.537	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		17	143	0	0	0	1	0	17	143				
MAOB	4129	broad.mit.edu	37	X	43655005	43655005	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:43655005A>C	ENST00000378069.4	-	7	896	c.749T>G	c.(748-750)cTa>cGa	p.L250R	MAOB_ENST00000487544.1_5'Flank|MAOB_ENST00000538942.1_Missense_Mutation_p.L234R|MAOB_ENST00000536181.1_Missense_Mutation_p.L234R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	250					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CTCATGGTTTAGGGTCTCCAC	0.418																																						ENST00000378069.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(748-750)cTa>cGa		monoamine oxidase B	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						162.0	135.0	144.0					X																	43655005		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43655005A>C		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.749T>G	X.37:g.43655005A>C	ENSP00000367309:p.Leu250Arg					MAOB_ENST00000538942.1_Missense_Mutation_p.L234R|MAOB_ENST00000536181.1_Missense_Mutation_p.L234R	p.L250R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN			7	896	-			250					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.749T>G	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	A	6.862	0.528414	0.13127	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.92595	-3.07;-3.07;-3.07	5.29	5.29	0.74685	Amine oxidase (1);	0.150792	0.46145	D	0.000304	D	0.87120	0.6098	L	0.41415	1.275	0.58432	D	0.999995	B;B	0.33044	0.395;0.186	B;B	0.31101	0.124;0.109	D	0.84547	0.0642	10	0.16420	T	0.52	-9.8744	14.5308	0.67923	1.0:0.0:0.0:0.0	.	234;250	B7Z5H3;P27338	.;AOFB_HUMAN	R	250;234;234	ENSP00000367309:L250R;ENSP00000441613:L234R;ENSP00000442240:L234R	ENSP00000367309:L250R	L	-	2	0	MAOB	43539949	0.942000	0.31987	0.979000	0.43373	0.323000	0.28346	8.496000	0.90485	1.880000	0.54463	0.430000	0.28490	CTA		0.418	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898		16	24	0	0	0	1	0	16	24				
ATG14	22863	broad.mit.edu	37	14	55848900	55848900	+	Silent	SNP	T	T	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:55848900T>A	ENST00000247178.5	-	6	692	c.657A>T	c.(655-657)gcA>gcT	p.A219A		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	219					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AAGACACATCTGCGGGGTCTC	0.493																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(655-657)gcA>gcT		autophagy related 14							82.0	74.0	76.0					14																	55848900		2203	4300	6503	SO:0001819	synonymous_variant	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848900T>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.657A>T	14.37:g.55848900T>A							p.A219A	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	692	-			219					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Silent	SNP	ENST00000247178.5	37	c.657A>T	CCDS32087.1																																																																																				0.493	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		17	46	0	0	0	1	0	17	46				
GAD2	2572	broad.mit.edu	37	10	26559644	26559644	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:26559644G>A	ENST00000376261.3	+	10	1554	c.1051G>A	c.(1051-1053)Gct>Act	p.A351T	GAD2_ENST00000259271.3_Missense_Mutation_p.A351T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	351					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTAGCTGTCGCTGACATTTG	0.493																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1051-1053)Gct>Act		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						151.0	145.0	147.0					10																	26559644		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559644G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1051G>A	10.37:g.26559644G>A	ENSP00000365437:p.Ala351Thr					GAD2_ENST00000259271.3_Missense_Mutation_p.A351T	p.A351T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			10	1554	+			351					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1051G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110451	0.77210	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.099611	0.64402	D	0.000002	T	0.60235	0.2253	M	0.91872	3.25	0.80722	D	1	P	0.45240	0.854	B	0.43623	0.425	T	0.70802	-0.4773	10	0.66056	D	0.02	-13.6599	19.5667	0.95397	0.0:0.0:1.0:0.0	.	351	Q05329	DCE2_HUMAN	T	351	ENSP00000365437:A351T;ENSP00000259271:A351T	ENSP00000259271:A351T	A	+	1	0	GAD2	26599650	1.000000	0.71417	0.986000	0.45419	0.629000	0.37895	5.675000	0.68123	2.740000	0.93945	0.643000	0.83706	GCT		0.493	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		15	143	0	0	0	1	0	15	143				
CXorf58	254158	broad.mit.edu	37	X	23956757	23956757	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:23956757G>C	ENST00000379211.3	+	8	1428	c.879G>C	c.(877-879)atG>atC	p.M293I		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	293										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAGCTCAAATGAAAGTTGAAA	0.348																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(877-879)atG>atC		chromosome X open reading frame 58							88.0	88.0	88.0					X																	23956757		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23956757G>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.879G>C	X.37:g.23956757G>C	ENSP00000368511:p.Met293Ile						p.M293I	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN			8	1428	+			293						Missense_Mutation	SNP	ENST00000379211.3	37	c.879G>C	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	G	4.993	0.184368	0.09495	.	.	ENSG00000165182	ENST00000379211	T	0.28895	1.59	4.76	1.93	0.25924	.	0.581928	0.16245	N	0.222976	T	0.22742	0.0549	L	0.51422	1.61	0.09310	N	1	B;B	0.17268	0.021;0.009	B;B	0.16289	0.015;0.013	T	0.17471	-1.0368	10	0.33141	T	0.24	-7.9627	3.9324	0.09292	0.096:0.1598:0.5766:0.1676	.	293;293	B7ZLS7;Q96LI9	.;CX058_HUMAN	I	293	ENSP00000368511:M293I	ENSP00000368511:M293I	M	+	3	0	CXorf58	23866678	0.228000	0.23718	0.028000	0.17463	0.481000	0.33189	0.147000	0.16202	0.518000	0.28383	0.523000	0.50628	ATG		0.348	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		22	20	0	0	0	1	0	22	20				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		4	54	0	0	0	1	0	4	54				
HOXD8	3234	broad.mit.edu	37	2	176995668	176995668	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:176995668C>A	ENST00000313173.4	+	1	1201	c.574C>A	c.(574-576)Caa>Aaa	p.Q192K	HOXD8_ENST00000544999.1_Missense_Mutation_p.Q192K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.Q88K|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q192K|HOXD8_ENST00000429017.1_Missense_Mutation_p.Q8K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	192					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GATGAGACCACAAGGTTGGGA	0.463																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(574-576)Caa>Aaa		homeobox D8							44.0	44.0	44.0					2																	176995668		2140	4070	6210	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995668C>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.574C>A	2.37:g.176995668C>A	ENSP00000315949:p.Gln192Lys					HOXD8_ENST00000429017.1_Missense_Mutation_p.Q8K|HOXD8_ENST00000548663.1_Missense_Mutation_p.Q88K|HOXD8_ENST00000544999.1_Missense_Mutation_p.Q192K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q192K	p.Q192K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	1201	+			192					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.574C>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350026	0.61183	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;T;T;D;T	0.95554	-3.74;1.03;1.03;-3.74;1.03	4.63	4.63	0.57726	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.56097	D	0.000031	D	0.94857	0.8338	L	0.48362	1.52	0.34933	D	0.749513	P;P	0.45715	0.79;0.865	B;P	0.49047	0.379;0.599	D	0.96355	0.9261	10	0.32370	T	0.25	.	17.8642	0.88791	0.0:1.0:0.0:0.0	.	192;192	Q8IXZ1;P13378	.;HXD8_HUMAN	K	8;192;192;88;192	ENSP00000406045:Q8K;ENSP00000315949:Q192K;ENSP00000437431:Q192K;ENSP00000448196:Q88K;ENSP00000409026:Q192K	ENSP00000315949:Q192K	Q	+	1	0	HOXD8	176703914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.258000	0.74832	0.655000	0.94253	CAA		0.463	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			13	41	1	0	9.31168e-06	1	1.13701e-05	13	41				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR323A_ENST00000362199.1_RNA|MIR380_ENST00000362112.2_RNA|MIR299_ENST00000385016.2_RNA|MIR758_ENST00000390227.1_RNA|MIR329-2_ENST00000385029.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		5	216	0	0	0	1	0	5	216				
EFCC1	79825	broad.mit.edu	37	3	128755841	128755841	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:128755841G>C	ENST00000480450.1	+	6	1471	c.1471G>C	c.(1471-1473)Gaa>Caa	p.E491Q	EFCC1_ENST00000436022.2_Missense_Mutation_p.E54Q			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	491							calcium ion binding (GO:0005509)										GCAGAAGGTGGAAGAGAATGA	0.597																																						ENST00000436022.2																			0											c.(160-162)Gaa>Caa		EF-hand and coiled-coil domain containing 1							67.0	69.0	68.0					3																	128755841		2203	4300	6503	SO:0001583	missense	79825							g.chr3:128755841G>C	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1471G>C	3.37:g.128755841G>C	ENSP00000420075:p.Glu491Gln					EFCC1_ENST00000480450.1_Missense_Mutation_p.E491Q	p.E54Q	NM_024768.2	NP_079044.2					6	1471	+								A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	c.160G>C	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703754	0.48412	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.52754	0.65;0.67	4.19	4.19	0.49359	.	0.074861	0.49305	D	0.000143	T	0.49064	0.1535	L	0.47190	1.495	0.46849	D	0.999228	P	0.47677	0.899	P	0.48227	0.571	T	0.53129	-0.8482	10	0.54805	T	0.06	.	14.0679	0.64841	0.0:0.0:1.0:0.0	.	491	Q9HA90	CCD48_HUMAN	Q	491;54	ENSP00000420075:E491Q;ENSP00000414597:E54Q	ENSP00000414597:E54Q	E	+	1	0	CCDC48	130238531	1.000000	0.71417	0.112000	0.21494	0.680000	0.39746	3.975000	0.56859	2.126000	0.65437	0.467000	0.42956	GAA		0.597	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1	NM_024768		6	51	0	0	0	1	0	6	51				
CCT8	10694	broad.mit.edu	37	21	30439889	30439889	+	Silent	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:30439889C>G	ENST00000286788.4	-	4	575	c.369G>C	c.(367-369)ctG>ctC	p.L123L	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.L104L|CCT8_ENST00000540844.1_Silent_p.L50L	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	123					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CTGAAACTGACAGGCCAATCC	0.358																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(367-369)ctG>ctC		chaperonin containing TCP1, subunit 8 (theta)							59.0	55.0	57.0					21																	30439889		2203	4300	6503	SO:0001819	synonymous_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30439889C>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.369G>C	21.37:g.30439889C>G						CCT8_ENST00000542732.1_Silent_p.L104L|CCT8_ENST00000540844.1_Silent_p.L50L|CCT8_ENST00000470450.1_5'UTR	p.L123L	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	575	-			123					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	ENST00000286788.4	37	c.369G>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	C	8.203	0.798672	0.16397	.	.	ENSG00000156261	ENST00000431234	.	.	.	5.55	0.145	0.14829	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21895	-1.0232	4	.	.	.	-8.38	2.5568	0.04762	0.3342:0.3981:0.1009:0.1669	.	.	.	.	S	115	.	.	C	-	2	0	CCT8	29361760	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	-2.004000	0.01461	0.038000	0.15604	0.655000	0.94253	TGT		0.358	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			12	35	0	0	0	1	0	12	35				
PCLO	27445	broad.mit.edu	37	7	82764229	82764229	+	Silent	SNP	A	A	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:82764229A>G	ENST00000333891.9	-	3	2974	c.2637T>C	c.(2635-2637)ccT>ccC	p.P879P	PCLO_ENST00000423517.2_Silent_p.P879P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCGTGGGCCAGGGGGTGTTG	0.517																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(2635-2637)ccT>ccC		piccolo presynaptic cytomatrix protein							203.0	204.0	203.0					7																	82764229		1987	4164	6151	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764229A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2637T>C	7.37:g.82764229A>G						PCLO_ENST00000333891.8_Silent_p.P879P	p.P879P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	2974	-			825			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2637T>C	CCDS47630.1																																																																																				0.517	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	204	0	0	0	1	0	22	204				
SERTAD4	56256	broad.mit.edu	37	1	210414981	210414981	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:210414981G>C	ENST00000367012.3	+	4	600	c.370G>C	c.(370-372)Gtg>Ctg	p.V124L	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	124	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGATCCTGAAGTGTACCTCCG	0.368																																						ENST00000367012.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(370-372)Gtg>Ctg		SERTA domain containing 4							94.0	98.0	96.0					1																	210414981		2203	4300	6503	SO:0001583	missense	56256						protein binding	g.chr1:210414981G>C	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.370G>C	1.37:g.210414981G>C	ENSP00000355979:p.Val124Leu					SERTAD4_ENST00000490620.1_3'UTR	p.V124L	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	600	+			124			SERTA.		B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	c.370G>C	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143494	0.57044	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	4.75	0.60458	.	0.070593	0.53938	D	0.000041	T	0.46268	0.1384	N	0.22421	0.69	0.35581	D	0.806277	B	0.29936	0.262	B	0.30855	0.121	T	0.58526	-0.7621	9	0.72032	D	0.01	-33.5881	14.8004	0.69909	0.0694:0.0:0.9306:0.0	.	124	Q9NUC0	SRTD4_HUMAN	L	124	.	ENSP00000355979:V124L	V	+	1	0	SERTAD4	208481604	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.867000	0.87062	1.391000	0.46566	0.655000	0.94253	GTG		0.368	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		17	86	0	0	0	1	0	17	86				
TBCE	6905	broad.mit.edu	37	1	235597548	235597548	+	Silent	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:235597548C>T	ENST00000366601.3	+	8	866	c.690C>T	c.(688-690)ggC>ggT	p.G230G	TBCE_ENST00000543662.1_Silent_p.G281G|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.G230G			Q15813	TBCE_HUMAN	tubulin folding cofactor E	230					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GGTGCCCAGGCCTGGAGGAAC	0.502																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(841-843)ggC>ggT		tubulin folding cofactor E							144.0	146.0	145.0					1																	235597548		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235597548C>T	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.690C>T	1.37:g.235597548C>T						TBCE_ENST00000366601.3_Silent_p.G230G|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.G230G	p.G281G			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		9	949	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	230					A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.843C>T	CCDS1605.1																																																																																				0.502	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		8	84	0	0	0	1	0	8	84				
RALGAPA2	57186	broad.mit.edu	37	20	20517346	20517346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr20:20517346G>T	ENST00000202677.7	-	25	3375	c.3368C>A	c.(3367-3369)tCa>tAa	p.S1123*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1123					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTGGCACTGACTGCAGTAA	0.443																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3367-3369)tCa>tAa		Ral GTPase activating protein, alpha subunit 2 (catalytic)							68.0	72.0	71.0					20																	20517346		1916	4129	6045	SO:0001587	stop_gained	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20517346G>T	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.3368C>A	20.37:g.20517346G>T	ENSP00000202677:p.Ser1123*						p.S1123*	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			25	3510	-			1123					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	ENST00000202677.7	37	c.3368C>A	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.375417|7.375417	0.98245|0.98245	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.427385	.|0.24843	.|N	.|0.035159	T|.	0.73583|.	0.3605|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.68390|.	-0.5421|.	3|.	.|0.30078	.|T	.|0.28	.|.	19.6888|19.6888	0.95989|0.95989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	940|1123	.|.	.|ENSP00000202677:S1123X	Q|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20465346|20465346	1.000000|1.000000	0.71417|0.71417	0.196000|0.196000	0.23383|0.23383	0.035000|0.035000	0.12851|0.12851	4.256000|4.256000	0.58810|0.58810	2.661000|2.661000	0.90470|0.90470	0.557000|0.557000	0.71058|0.71058	CAG|TCA		0.443	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		5	8	1	0	0.0293803	1	0.0298958	5	8				
TLR2	7097	broad.mit.edu	37	4	154625865	154625865	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:154625865C>G	ENST00000260010.6	+	1	3214	c.1806C>G	c.(1804-1806)atC>atG	p.I602M		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	602					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TCCTGCTGATCCTGCTCACGG	0.582																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1804-1806)atC>atG		toll-like receptor 2							89.0	66.0	74.0					4																	154625865		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625865C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1806C>G	4.37:g.154625865C>G	ENSP00000260010:p.Ile602Met						p.I602M	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	3214	+	all_hematologic(180;0.093)	Renal(120;0.117)	602					B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1806C>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	4.528	0.097966	0.08681	.	.	ENSG00000137462	ENST00000260010	T	0.34859	1.34	5.33	2.38	0.29361	.	0.960889	0.08654	N	0.913587	T	0.41834	0.1176	M	0.78456	2.415	0.09310	N	1	B	0.26258	0.145	B	0.25405	0.06	T	0.41484	-0.9506	10	0.72032	D	0.01	.	9.8489	0.41043	0.1417:0.5498:0.3086:0.0	.	602	O60603	TLR2_HUMAN	M	602	ENSP00000260010:I602M	ENSP00000260010:I602M	I	+	3	3	TLR2	154845315	0.000000	0.05858	0.392000	0.26245	0.273000	0.26683	0.088000	0.14979	0.575000	0.29434	0.655000	0.94253	ATC		0.582	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			4	37	0	0	0	1	0	4	37				
RGS6	9628	broad.mit.edu	37	14	73029174	73029174	+	Nonstop_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:73029174G>C	ENST00000553530.1	+	17	1625	c.1418G>C	c.(1417-1419)tGa>tCa	p.*473S	RGS6_ENST00000343854.6_Nonstop_Mutation_p.*454S|RGS6_ENST00000555571.1_Nonstop_Mutation_p.*473S|RGS6_ENST00000553525.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000556437.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000554782.1_Intron|RGS6_ENST00000402788.2_Nonstop_Mutation_p.*473S|RP3-514A23.2_ENST00000555303.1_lincRNA	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	0					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGTCCTCCTGACCGTTCCTA	0.667																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1417-1419)tGa>tCa		regulator of G-protein signaling 6							41.0	43.0	42.0					14																	73029174		2203	4300	6503	SO:0001578	stop_lost	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:73029174G>C	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1418G>C	14.37:g.73029174G>C	ENSP00000452331:p.*473Serext*36					RGS6_ENST00000554782.1_Intron|RP3-514A23.2_ENST00000555303.1_lincRNA|RGS6_ENST00000555571.1_Nonstop_Mutation_p.*473S|RGS6_ENST00000556437.1_Nonstop_Mutation_p.*491S|RGS6_ENST00000402788.2_Nonstop_Mutation_p.*473S|RGS6_ENST00000343854.6_Nonstop_Mutation_p.*454S|RGS6_ENST00000553525.1_Nonstop_Mutation_p.*491S	p.*473S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	17	1625	+			0					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Nonstop_Mutation	SNP	ENST00000553530.1	37	c.1418G>C	CCDS9808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112040	0.94339	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000402788;ENST00000343854	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.218	0.82241	0.0:0.0:1.0:0.0	.	.	.	.	S	491;473;473;491;473;454	.	.	X	+	2	2	RGS6	72098927	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	5.778000	0.68940	2.566000	0.86566	0.561000	0.74099	TGA		0.667	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			6	25	0	0	0	1	0	6	25				
NRXN3	9369	broad.mit.edu	37	14	79175953	79175953	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:79175953G>T	ENST00000554719.1	+	4	987	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D166Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	170	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAAAGCCAATGATGGGGAATG	0.502																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(496-498)Gat>Tat		neurexin 3							120.0	124.0	123.0					14																	79175953		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79175953G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.496G>T	14.37:g.79175953G>T	ENSP00000451648:p.Asp166Tyr					RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.D166Y	p.D166Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	987	+		Renal(4;0.00876)	170			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.496G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260183	0.80246	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557081	D;D;D	0.86694	-2.04;-2.04;-2.16	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.979;0.984	D	0.97092	0.9791	9	.	.	.	.	19.1251	0.93380	0.0:0.0:1.0:0.0	.	539;166	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	Y	539;537;166;166;110	ENSP00000451648:D166Y;ENSP00000338349:D166Y;ENSP00000450462:D110Y	.	D	+	1	0	NRXN3	78245706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.518000	0.84900	0.563000	0.77884	GAT		0.502	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		16	49	1	0	0.000566183	1	0.00065027	16	49				
H2AFX	3014	broad.mit.edu	37	11	118966003	118966003	+	Silent	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:118966003C>T	ENST00000530167.1	-	1	174	c.102G>A	c.(100-102)ctG>ctA	p.L34L		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	34					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CCTTCCGCAGCAGCCGGTGTA	0.726								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(100-102)ctG>ctA	Chromatin Structure	H2A histone family, member X							12.0	15.0	14.0					11																	118966003		2158	4236	6394	SO:0001819	synonymous_variant	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118966003C>T	X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.102G>A	11.37:g.118966003C>T			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.L34L	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	174	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	34					Q4ZGJ7|Q6IAS5	Silent	SNP	ENST00000530167.1	37	c.102G>A	CCDS8410.1																																																																																				0.726	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		8	13	0	0	0	1	0	8	13				
LRRC8B	23507	broad.mit.edu	37	1	90048805	90048805	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:90048805T>C	ENST00000330947.2	+	5	956	c.596T>C	c.(595-597)aTa>aCa	p.I199T	LRRC8B_ENST00000358200.4_Missense_Mutation_p.I199T|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I199T|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	199					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCAGCTGACATAGATTCCGGC	0.527																																						ENST00000330947.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(595-597)aTa>aCa		leucine rich repeat containing 8 family, member B							55.0	60.0	58.0					1																	90048805		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048805T>C	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.596T>C	1.37:g.90048805T>C	ENSP00000332674:p.Ile199Thr					LRRC8B_ENST00000358200.4_Missense_Mutation_p.I199T|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I199T	p.I199T	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	5	956	+		all_lung(203;0.17)	199					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.596T>C	CCDS724.1	.	.	.	.	.	.	.	.	.	.	T	0.356	-0.942126	0.02322	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853;ENST00000541858	T;T;T	0.35048	1.33;1.33;1.33	5.0	3.86	0.44501	.	0.619336	0.15434	N	0.262536	T	0.08935	0.0221	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	9	.	.	.	.	7.8343	0.29362	0.0:0.1588:0.0:0.8412	.	199	Q6P9F7	LRC8B_HUMAN	T	199	ENSP00000332674:I199T;ENSP00000350933:I199T;ENSP00000400704:I199T	.	I	+	2	0	LRRC8B	89821393	0.001000	0.12720	0.046000	0.18839	0.198000	0.23893	0.345000	0.19979	1.995000	0.58328	0.533000	0.62120	ATA		0.527	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		10	41	0	0	0	1	0	10	41				
HMCN1	83872	broad.mit.edu	37	1	186072727	186072727	+	Missense_Mutation	SNP	G	G	T	rs41317483	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:186072727G>T	ENST00000271588.4	+	69	10926	c.10697G>T	c.(10696-10698)gGc>gTc	p.G3566V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3566V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3566	Ig-like C2-type 34.				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						ATGAAAGATGGCCGGCCCCTT	0.433																																						ENST00000271588.4																			0				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						c.(10696-10698)gGc>gTc		hemicentin 1							70.0	74.0	73.0					1																	186072727		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186072727G>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.10697G>T	1.37:g.186072727G>T	ENSP00000271588:p.Gly3566Val					HMCN1_ENST00000367492.2_Missense_Mutation_p.G3566V	p.G3566V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			69	10926	+			3566			Ig-like C2-type 34.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10697G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061593	0.93846	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.82803	-1.65;-1.65	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94278	0.8162	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95201	0.8317	10	0.66056	D	0.02	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	3566	Q96RW7	HMCN1_HUMAN	V	3566	ENSP00000271588:G3566V;ENSP00000356462:G3566V	ENSP00000271588:G3566V	G	+	2	0	HMCN1	184339350	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.280000	0.78610	2.683000	0.91414	0.655000	0.94253	GGC		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	50	1	0	0.004672	1	0.00501807	3	50				
NFATC1	4772	broad.mit.edu	37	18	77170782	77170782	+	Silent	SNP	G	G	A	rs146706357		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr18:77170782G>A	ENST00000427363.2	+	2	507	c.507G>A	c.(505-507)tcG>tcA	p.S169S	NFATC1_ENST00000586434.1_Silent_p.S156S|NFATC1_ENST00000253506.5_Silent_p.S169S|NFATC1_ENST00000587635.1_Silent_p.S169S|NFATC1_ENST00000592223.1_Silent_p.S156S|NFATC1_ENST00000542384.1_Silent_p.S169S|NFATC1_ENST00000591814.1_Silent_p.S169S|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000329101.4_Silent_p.S156S|NFATC1_ENST00000318065.5_Silent_p.S156S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	169	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GAGACCCCTCGTGCCTGAGCC	0.657																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(505-507)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1		G	,,,,	2,4404	2.1+/-5.4	0,2,2201	38.0	40.0	39.0		507,468,,468,507	-8.9	0.2	18	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	0,3,6499	AA,AG,GG		0.0116,0.0454,0.0231	,,,,	169/826,156/931,,156/813,169/717	77170782	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170782G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.507G>A	18.37:g.77170782G>A						NFATC1_ENST00000587635.1_Silent_p.S169S|NFATC1_ENST00000329101.4_Silent_p.S156S|NFATC1_ENST00000591814.1_Silent_p.S169S|NFATC1_ENST00000592223.1_Silent_p.S156S|NFATC1_ENST00000586434.1_Silent_p.S156S|NFATC1_ENST00000542384.1_Silent_p.S169S|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.S156S|NFATC1_ENST00000427363.2_Silent_p.S169S	p.S169S	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	876	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	169			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.507G>A																																																																																					0.657	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		10	32	0	0	0	1	0	10	32				
MYH6	4624	broad.mit.edu	37	14	23866242	23866242	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:23866242C>T	ENST00000356287.3	-	17	2127	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	MYH6_ENST00000405093.3_Missense_Mutation_p.V700M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	700	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCCTCCAGCACGCCATTGCAG	0.617																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2098-2100)Gtg>Atg		myosin, heavy chain 6, cardiac muscle, alpha							55.0	54.0	54.0					14																	23866242		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866242C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2098G>A	14.37:g.23866242C>T	ENSP00000348634:p.Val700Met					MYH6_ENST00000356287.3_Missense_Mutation_p.V700M	p.V700M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	18	2168	-	all_cancers(95;2.54e-05)		700			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2098G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.567474	0.86439	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.75260	-0.92;-0.92	4.14	4.14	0.48551	Myosin head, motor domain (2);	.	.	.	.	D	0.86293	0.5898	M	0.80508	2.5	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.88870	0.3332	9	0.87932	D	0	.	16.9506	0.86244	0.0:1.0:0.0:0.0	.	700	P13533	MYH6_HUMAN	M	700	ENSP00000386041:V700M;ENSP00000348634:V700M	ENSP00000348634:V700M	V	-	1	0	MYH6	22936082	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.276000	0.78559	2.311000	0.77944	0.650000	0.86243	GTG		0.617	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			7	22	0	0	0	1	0	7	22				
KIF1C	10749	broad.mit.edu	37	17	4927385	4927385	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:4927385C>T	ENST00000320785.5	+	23	3608	c.3251C>T	c.(3250-3252)cCc>cTc	p.P1084L		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	1084	Pro-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TACACTACTCCCCCACGAATG	0.652																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(3250-3252)cCc>cTc		kinesin family member 1C							42.0	48.0	46.0					17																	4927385		2200	4292	6492	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927385C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.3251C>T	17.37:g.4927385C>T	ENSP00000320821:p.Pro1084Leu						p.P1084L	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3608	+			1084			Pro-rich.		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.3251C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650528	0.87958	.	.	ENSG00000129250	ENST00000320785	T	0.78246	-1.16	5.04	5.04	0.67666	.	.	.	.	.	D	0.82426	0.5034	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.84350	0.0532	9	0.87932	D	0	.	15.9191	0.79547	0.0:1.0:0.0:0.0	.	1084	O43896	KIF1C_HUMAN	L	1084	ENSP00000320821:P1084L	ENSP00000320821:P1084L	P	+	2	0	KIF1C	4868109	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.376000	0.66178	2.609000	0.88269	0.655000	0.94253	CCC		0.652	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			12	22	0	0	0	1	0	12	22				
PLCE1	51196	broad.mit.edu	37	10	95993811	95993811	+	Splice_Site	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:95993811G>A	ENST00000371380.3	+	5	2191	c.1956G>A	c.(1954-1956)agG>agA	p.R652R	PLCE1_ENST00000371385.3_Splice_Site_p.R344R|PLCE1_ENST00000371375.1_Splice_Site_p.R344R|PLCE1_ENST00000260766.3_Splice_Site_p.R652R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	652	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGCAATAGGTCAAGAAAAG	0.373																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.e6-1		phospholipase C, epsilon 1							52.0	51.0	51.0					10																	95993811		1884	4102	5986	SO:0001630	splice_region_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95993811G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1956-1G>A	10.37:g.95993811G>A						PLCE1_ENST00000371375.1_Splice_Site_p.R344_splice|PLCE1_ENST00000371385.3_Splice_Site_p.R344_splice|PLCE1_ENST00000371380.2_Splice_Site_p.R652_splice	p.R652_splice	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			6	2590	+		Colorectal(252;0.0458)	652			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Splice_Site	SNP	ENST00000371380.3	37	c.1955_splice	CCDS41552.1																																																																																				0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	Silent	4	20	0	0	0	1	0	4	20				
OR11H6	122748	broad.mit.edu	37	14	20692478	20692478	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:20692478G>A	ENST00000315519.2	+	1	688	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	204						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(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCCATTGTTTGCACTGGCCTG	0.488																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(610-612)Gca>Aca		olfactory receptor, family 11, subfamily H, member 6							114.0	106.0	109.0					14																	20692478		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692478G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.610G>A	14.37:g.20692478G>A	ENSP00000319071:p.Ala204Thr						p.A204T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	688	+	all_cancers(95;0.00108)		204					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.610G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038375	0.35989	.	.	ENSG00000176219	ENST00000315519	T	0.00069	8.77	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.00178	0.0005	L	0.39467	1.215	0.09310	N	0.999997	B	0.24823	0.112	B	0.33799	0.17	T	0.43909	-0.9362	10	0.36615	T	0.2	.	11.503	0.50448	0.0:0.1811:0.8189:0.0	.	204	Q8NGC7	O11H6_HUMAN	T	204	ENSP00000319071:A204T	ENSP00000319071:A204T	A	+	1	0	OR11H6	19762318	0.000000	0.05858	0.858000	0.33744	0.985000	0.73830	-1.290000	0.02777	2.592000	0.87571	0.471000	0.43371	GCA		0.488	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			14	37	0	0	0	1	0	14	37				
MCM3AP	8888	broad.mit.edu	37	21	47693423	47693423	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:47693423C>T	ENST00000397708.1	-	8	2329	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R692Q			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	692	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGCAAGGGCCGCAGCTCGTG	0.612																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2074-2076)cGg>cAg		minichromosome maintenance complex component 3 associated protein							66.0	54.0	58.0					21																	47693423		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47693423C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2075G>A	21.37:g.47693423C>T	ENSP00000380820:p.Arg692Gln					MCM3AP_ENST00000291688.1_Missense_Mutation_p.R692Q	p.R692Q			O60318	MCM3A_HUMAN			8	2329	-	Breast(49;0.112)		692					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.2075G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130780	0.94473	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.38560	1.13;1.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82170	-0.0590	10	0.87932	D	0	-33.0372	20.3932	0.98965	0.0:1.0:0.0:0.0	.	692	O60318	MCM3A_HUMAN	Q	692	ENSP00000380820:R692Q;ENSP00000291688:R692Q	ENSP00000291688:R692Q	R	-	2	0	MCM3AP	46517851	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	7.649000	0.83500	2.824000	0.97209	0.655000	0.94253	CGG		0.612	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		11	32	0	0	0	1	0	11	32				
OLFML2B	25903	broad.mit.edu	37	1	161989785	161989785	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:161989785G>A	ENST00000294794.3	-	2	785	c.362C>T	c.(361-363)cCc>cTc	p.P121L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.P121L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	121					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCCGATGGGGGTGCTACACA	0.602																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(361-363)cCc>cTc		olfactomedin-like 2B							79.0	77.0	78.0					1																	161989785		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161989785G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.362C>T	1.37:g.161989785G>A	ENSP00000294794:p.Pro121Leu					OLFML2B_ENST00000367940.2_Missense_Mutation_p.P121L	p.P121L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		2	785	-	all_hematologic(112;0.156)		121					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.362C>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879707	0.72294	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	T;T	0.47528	0.84;0.84	4.64	4.64	0.57946	.	.	.	.	.	T	0.54902	0.1887	L	0.58510	1.815	0.43830	D	0.996407	D;D	0.76494	0.997;0.999	P;D	0.63113	0.826;0.911	T	0.60393	-0.7272	8	0.87932	D	0	.	15.4076	0.74890	0.0:0.0:1.0:0.0	.	121;121	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	L	121	ENSP00000294794:P121L;ENSP00000356917:P121L	ENSP00000294794:P121L	P	-	2	0	OLFML2B	160256409	1.000000	0.71417	0.148000	0.22405	0.412000	0.31113	8.997000	0.93544	2.575000	0.86900	0.561000	0.74099	CCC		0.602	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		5	29	0	0	0	1	0	5	29				
NEU2	4759	broad.mit.edu	37	2	233899168	233899168	+	Missense_Mutation	SNP	C	C	T	rs144556397		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:233899168C>T	ENST00000233840.3	+	2	544	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	182			R -> Q (in dbSNP:rs2233393).		ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CTACGCCTACCGGAAACTTCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.0					ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(544-546)Cgg>Tgg		sialidase 2 (cytosolic sialidase)							67.0	70.0	69.0					2																	233899168		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899168C>T	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.544C>T	2.37:g.233899168C>T	ENSP00000233840:p.Arg182Trp						p.R182W	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	544	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	182		R -> Q (in dbSNP:rs2233393).			Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.544C>T	CCDS2501.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.18	1.561950	0.27915	.	.	ENSG00000115488	ENST00000233840	D	0.88201	-2.35	4.88	2.87	0.33458	Neuraminidase (2);	0.372474	0.23032	N	0.052734	D	0.87434	0.6176	M	0.83483	2.645	0.40573	D	0.98132	P	0.50528	0.936	B	0.40636	0.335	D	0.85804	0.1375	10	0.45353	T	0.12	-26.6129	8.326	0.32158	0.1498:0.7636:0.0:0.0866	.	182	Q9Y3R4	NEUR2_HUMAN	W	182	ENSP00000233840:R182W	ENSP00000233840:R182W	R	+	1	2	NEU2	233607412	0.124000	0.22315	0.945000	0.38365	0.053000	0.15095	0.250000	0.18235	0.931000	0.37242	0.561000	0.74099	CGG		0.657	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		6	21	0	0	0	1	0	6	21				
TBX20	57057	broad.mit.edu	37	7	35293132	35293132	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:35293132C>A	ENST00000408931.3	-	1	626	c.100G>T	c.(100-102)Gcg>Tcg	p.A34S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	34					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTCTCCGTCGCCTCCTTCTCC	0.647																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(100-102)Gcg>Tcg		T-box 20							51.0	47.0	48.0					7																	35293132		2202	4300	6502	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35293132C>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.100G>T	7.37:g.35293132C>A	ENSP00000386170:p.Ala34Ser						p.A34S	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			1	626	-			34					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.100G>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	5.157	0.214485	0.09810	.	.	ENSG00000164532	ENST00000408931	D	0.87334	-2.24	5.35	2.38	0.29361	.	0.505372	0.22454	N	0.059858	T	0.61912	0.2385	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.52442	-0.8575	10	0.09084	T	0.74	.	5.6487	0.17604	0.1158:0.4731:0.3302:0.081	.	34	Q9UMR3	TBX20_HUMAN	S	34	ENSP00000386170:A34S	ENSP00000386170:A34S	A	-	1	0	TBX20	35259657	0.019000	0.18553	0.561000	0.28357	0.952000	0.60782	-0.000000	0.12993	1.211000	0.43351	0.462000	0.41574	GCG		0.647	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		4	30	1	0	0.00909568	1	0.0095054	4	30				
NQO1	1728	broad.mit.edu	37	16	69745151	69745151	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:69745151A>T	ENST00000320623.5	-	6	1064	c.553T>A	c.(553-555)Tta>Ata	p.L185I	CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000561500.1_Missense_Mutation_p.L147I|snoU13_ENST00000459361.1_RNA|NQO1_ENST00000439109.2_Missense_Mutation_p.L113I|NQO1_ENST00000564043.1_Missense_Mutation_p.L164I|NQO1_ENST00000379046.2_Missense_Mutation_p.L147I|NQO1_ENST00000379047.3_Missense_Mutation_p.L151I	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	185					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TGAGGTTCTAAGACTTGGAAG	0.448																																						ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(553-555)Tta>Ata		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						146.0	152.0	150.0					16																	69745151		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69745151A>T	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.553T>A	16.37:g.69745151A>T	ENSP00000319788:p.Leu185Ile					NQO1_ENST00000379047.3_Missense_Mutation_p.L151I|NQO1_ENST00000561500.1_Missense_Mutation_p.L147I|NQO1_ENST00000564043.1_Missense_Mutation_p.L164I|NQO1_ENST00000379046.2_Missense_Mutation_p.L147I|NQO1_ENST00000439109.2_Missense_Mutation_p.L113I	p.L185I	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			6	1064	-			185					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.553T>A	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300978	0.81136	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.11930	2.73;3.01;3.01;3.01	5.41	1.89	0.25635	Flavodoxin-like fold (1);	0.075691	0.52532	D	0.000073	T	0.31482	0.0798	M	0.74881	2.28	0.49798	D	0.999829	D;D;D;D	0.89917	0.998;1.0;0.999;0.991	D;D;D;D	0.91635	0.994;0.999;0.967;0.998	T	0.00970	-1.1496	10	0.38643	T	0.18	-11.1467	8.5654	0.33536	0.5624:0.0:0.4376:0.0	.	113;147;151;185	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	I	185;151;147;113	ENSP00000319788:L185I;ENSP00000368335:L151I;ENSP00000368334:L147I;ENSP00000398330:L113I	ENSP00000319788:L185I	L	-	1	2	NQO1	68302652	0.999000	0.42202	0.997000	0.53966	0.997000	0.91878	0.703000	0.25646	0.113000	0.18004	0.533000	0.62120	TTA		0.448	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			20	167	0	0	0	1	0	20	167				
HECTD4	283450	broad.mit.edu	37	12	112608163	112608163	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:112608163G>T	ENST00000430131.2	-	68	11905	c.10760C>A	c.(10759-10761)aCc>aAc	p.T3587N	HECTD4_ENST00000377560.5_Missense_Mutation_p.T3837N|HECTD4_ENST00000550722.1_Missense_Mutation_p.T3863N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3587					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGGGTCCAAGGTGATCTCAGG	0.527																																						ENST00000550722.1																			0											c.(11587-11589)aCc>aAc		HECT domain containing E3 ubiquitin protein ligase 4							61.0	64.0	63.0					12																	112608163		2014	4200	6214	SO:0001583	missense	283450							g.chr12:112608163G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10760C>A	12.37:g.112608163G>T	ENSP00000404379:p.Thr3587Asn					HECTD4_ENST00000377560.5_Missense_Mutation_p.T3837N|HECTD4_ENST00000430131.2_Missense_Mutation_p.T3587N	p.T3863N	NM_001109662.3	NP_001103132.3					69	11983	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.11588C>A		.	.	.	.	.	.	.	.	.	.	G	36	5.818117	0.96982	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.47869	0.83;0.83;0.83	5.98	5.98	0.97165	.	.	.	.	.	T	0.55545	0.1927	N	0.14661	0.345	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.60667	-0.7218	9	0.66056	D	0.02	.	20.4366	0.99092	0.0:0.0:1.0:0.0	.	3587	Q9Y4D8	K0614_HUMAN	N	3837;3587;3863	ENSP00000366783:T3837N;ENSP00000404379:T3587N;ENSP00000449784:T3863N	ENSP00000366783:T3837N	T	-	2	0	C12orf51	111092546	1.000000	0.71417	0.968000	0.41197	0.890000	0.51754	9.434000	0.97515	2.837000	0.97791	0.591000	0.81541	ACC		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		6	39	1	0	8.12818e-05	1	9.52393e-05	6	39				
LRRC55	219527	broad.mit.edu	37	11	56950004	56950004	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:56950004A>G	ENST00000497933.1	+	1	784	c.637A>G	c.(637-639)Agt>Ggt	p.S213G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	183	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGGACCTCAGTTATGGGGG	0.652																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(637-639)Agt>Ggt		leucine rich repeat containing 55							56.0	57.0	57.0					11																	56950004		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950004A>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.637A>G	11.37:g.56950004A>G	ENSP00000419542:p.Ser213Gly						p.S213G	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	784	+			183			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.637A>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047214	0.75846	.	.	ENSG00000183908	ENST00000497933	T	0.03413	3.94	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.10723	0.0262	M	0.67397	2.05	0.58432	D	0.999995	P	0.43314	0.803	P	0.50192	0.634	T	0.15037	-1.0451	10	0.25751	T	0.34	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	183	Q6ZSA7	LRC55_HUMAN	G	213	ENSP00000419542:S213G	ENSP00000419542:S213G	S	+	1	0	LRRC55	56706580	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.147000	0.58078	2.254000	0.74563	0.533000	0.62120	AGT		0.652	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		12	38	0	0	0	1	0	12	38				
ZSCAN4	201516	broad.mit.edu	37	19	58190197	58190197	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:58190197C>G	ENST00000318203.5	+	5	1923	c.1226C>G	c.(1225-1227)tCc>tGc	p.S409C		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	409					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGCCAGTCATCCACATACCAC	0.473																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(1225-1227)tCc>tGc		zinc finger and SCAN domain containing 4							75.0	79.0	78.0					19																	58190197		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190197C>G	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1226C>G	19.37:g.58190197C>G	ENSP00000321963:p.Ser409Cys						p.S409C	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1923	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	409					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1226C>G	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977770	0.53720	.	.	ENSG00000180532	ENST00000318203	T	0.08282	3.11	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135390	0.34802	N	0.003674	T	0.21801	0.0525	L	0.51914	1.62	0.22435	N	0.999109	D	0.89917	1.0	D	0.87578	0.998	T	0.00787	-1.1566	10	0.72032	D	0.01	-24.6577	12.6291	0.56646	0.0:1.0:0.0:0.0	.	409	Q8NAM6	ZSCA4_HUMAN	C	409	ENSP00000321963:S409C	ENSP00000321963:S409C	S	+	2	0	ZSCAN4	62882009	0.001000	0.12720	0.996000	0.52242	0.851000	0.48451	0.441000	0.21611	2.699000	0.92147	0.650000	0.86243	TCC		0.473	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		25	71	0	0	0	1	0	25	71				
KCNT2	343450	broad.mit.edu	37	1	196392206	196392206	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:196392206G>A	ENST00000294725.9	-	12	2074	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	KCNT2_ENST00000367431.4_Missense_Mutation_p.R387C|KCNT2_ENST00000609185.1_Missense_Mutation_p.R387C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R387C|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	387					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTCACAACGGCTACTGAGA	0.308																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1159-1161)Cgt>Tgt		potassium channel, subfamily T, member 2							60.0	56.0	57.0					1																	196392206		2202	4299	6501	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196392206G>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1159C>T	1.37:g.196392206G>A	ENSP00000294725:p.Arg387Cys					KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.R387C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R387C	p.R387C			Q6UVM3	KCNT2_HUMAN			12	1260	-			387					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1159C>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733977	0.69189	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.21191	2.02;2.06;2.26	5.38	4.41	0.53225	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000016	T	0.49779	0.1577	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.99;0.998	T	0.55866	-0.8073	10	0.87932	D	0	-13.8268	13.8697	0.63610	0.0:0.0:0.7392:0.2608	.	387;387;387;387	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	C	387;387;208;387	ENSP00000356403:R387C;ENSP00000356401:R387C;ENSP00000294725:R387C	ENSP00000294725:R387C	R	-	1	0	KCNT2	194658829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.078000	0.41567	2.678000	0.91216	0.585000	0.79938	CGT		0.308	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		11	25	0	0	0	1	0	11	25				
NXPE4	54827	broad.mit.edu	37	11	114442009	114442009	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:114442009G>T	ENST00000375478.3	-	6	1466	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N	NXPE4_ENST00000424261.2_Missense_Mutation_p.T145N	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	429						extracellular vesicular exosome (GO:0070062)											AACAATGACAGTATTTTTTTC	0.428																																						ENST00000375478.3																			0											c.(1285-1287)aCt>aAt		neurexophilin and PC-esterase domain family, member 4							165.0	154.0	157.0					11																	114442009		1859	4085	5944	SO:0001583	missense	54827							g.chr11:114442009G>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1286C>A	11.37:g.114442009G>T	ENSP00000364627:p.Thr429Asn					NXPE4_ENST00000424261.2_Missense_Mutation_p.T145N	p.T429N	NM_001077639.1	NP_001071107.1					6	1466	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1286C>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080507	0.76528	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.25085	2.26;1.82	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000006	T	0.61211	0.2329	M	0.91300	3.195	0.47065	D	0.999304	D	0.89917	1.0	D	0.91635	0.999	T	0.67499	-0.5655	10	0.51188	T	0.08	.	18.2129	0.89876	0.0:0.0:1.0:0.0	.	429	Q6UWF7	FA55D_HUMAN	N	145;429	ENSP00000401503:T145N;ENSP00000364627:T429N	ENSP00000364627:T429N	T	-	2	0	FAM55D	113947219	0.999000	0.42202	0.086000	0.20670	0.835000	0.47333	3.242000	0.51384	2.717000	0.92951	0.609000	0.83330	ACT		0.428	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		5	133	1	0	0.00116845	1	0.00131592	5	133				
DET1	55070	broad.mit.edu	37	15	89074818	89074818	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr15:89074818C>T	ENST00000268148.8	-	2	264	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	DET1_ENST00000444300.1_Missense_Mutation_p.R51Q|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.R51Q	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	40						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATGGAACACTCGGACTTGGTG	0.483																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(151-153)cGa>cAa		de-etiolated homolog 1 (Arabidopsis)							159.0	157.0	158.0					15																	89074818		2002	4180	6182	SO:0001583	missense	55070					nucleus		g.chr15:89074818C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.119G>A	15.37:g.89074818C>T	ENSP00000268148:p.Arg40Gln					DET1_ENST00000444300.1_Missense_Mutation_p.R51Q|DET1_ENST00000558413.1_Intron|DET1_ENST00000268148.8_Missense_Mutation_p.R40Q	p.R51Q	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	312	-	Lung NSC(78;0.105)|all_lung(78;0.182)		40					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.152G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099822	0.94197	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67103	0.949;0.949	D	0.85423	0.1144	9	0.72032	D	0.01	-19.2393	19.2867	0.94077	0.0:1.0:0.0:0.0	.	40;51	Q7L5Y6;B3KNN6	DET1_HUMAN;.	Q	51;40	.	ENSP00000268148:R40Q	R	-	2	0	DET1	86875822	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.002000	0.76304	2.793000	0.96121	0.655000	0.94253	CGA		0.483	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		11	61	0	0	0	1	0	11	61				
CLTC	1213	broad.mit.edu	37	17	57754537	57754537	+	Silent	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:57754537G>T	ENST00000269122.3	+	17	3058	c.2784G>T	c.(2782-2784)ctG>ctT	p.L928L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.L928L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	928	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATGTGATCTGGAACTTATTA	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2782-2784)ctG>ctT		clathrin, heavy chain (Hc)							84.0	80.0	81.0					17																	57754537		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57754537G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2784G>T	17.37:g.57754537G>T						CLTC_ENST00000393043.1_Silent_p.L928L|CLTC_ENST00000579456.1_Intron	p.L928L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			17	3058	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		928			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.2784G>T	CCDS32696.1																																																																																				0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		6	46	1	0	0.00198382	1	0.00217097	6	46				
ERI2	112479	broad.mit.edu	37	16	20814811	20814811	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:20814811A>G	ENST00000357967.4	-	3	161	c.119T>C	c.(118-120)aTt>aCt	p.I40T	ERI2_ENST00000300005.3_Missense_Mutation_p.I40T|ERI2_ENST00000568251.1_5'Flank|ERI2_ENST00000564349.1_5'UTR|ERI2_ENST00000569729.1_Missense_Mutation_p.I40T|ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000389345.5_5'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	40	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTCAAAATCAATGACAATTAA	0.408																																						ENST00000357967.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						c.(118-120)aTt>aCt		ERI1 exoribonuclease family member 2							86.0	71.0	76.0					16																	20814811		2201	4300	6501	SO:0001583	missense	112479					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	g.chr16:20814811A>G	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.119T>C	16.37:g.20814811A>G	ENSP00000350651:p.Ile40Thr					ERI2_ENST00000564349.1_5'UTR|ERI2_ENST00000563117.1_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.I40T|ERI2_ENST00000569729.1_Missense_Mutation_p.I40T|ERI2_ENST00000389345.5_5'UTR	p.I40T	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN			3	161	-			40			Exonuclease.		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	c.119T>C	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032492	0.75504	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T;T	0.30182	1.54;1.54	5.76	4.67	0.58626	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.103397	0.64402	D	0.000006	T	0.55226	0.1907	M	0.87456	2.885	0.80722	D	1	D;D;D	0.64830	0.993;0.992;0.994	P;P;P	0.61070	0.883;0.676;0.79	T	0.61671	-0.7015	10	0.87932	D	0	-17.644	10.9689	0.47428	0.9256:0.0:0.0744:0.0	.	40;40;40	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	T	40	ENSP00000300005:I40T;ENSP00000350651:I40T	ENSP00000300005:I40T	I	-	2	0	ERI2	20722312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.029000	0.76477	1.006000	0.39211	0.533000	0.62120	ATT		0.408	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		22	35	0	0	0	1	0	22	35				
PCLO	27445	broad.mit.edu	37	7	82545234	82545234	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:82545234C>T	ENST00000333891.9	-	7	12405	c.12068G>A	c.(12067-12069)aGc>aAc	p.S4023N	PCLO_ENST00000423517.2_Missense_Mutation_p.S4023N|PCLO_ENST00000437081.1_Missense_Mutation_p.S743N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTGGACTGCTTGCCATGCT	0.393																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12067-12069)aGc>aAc		piccolo presynaptic cytomatrix protein							208.0	195.0	199.0					7																	82545234		1938	4141	6079	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545234C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12068G>A	7.37:g.82545234C>T	ENSP00000334319:p.Ser4023Asn					PCLO_ENST00000333891.8_Missense_Mutation_p.S4023N|PCLO_ENST00000437081.1_Missense_Mutation_p.S743N	p.S4023N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12405	-			3954						Missense_Mutation	SNP	ENST00000333891.9	37	c.12068G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689254	0.29962	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17528	2.27;2.27	5.85	5.85	0.93711	.	.	.	.	.	T	0.37100	0.0991	L	0.55481	1.735	0.36507	D	0.86933	B;D;D	0.63046	0.321;0.992;0.992	B;P;P	0.59357	0.136;0.856;0.856	T	0.20140	-1.0284	9	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3954;4023;4023	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	N	4023;4023;743	ENSP00000334319:S4023N;ENSP00000388393:S4023N	ENSP00000334319:S4023N	S	-	2	0	PCLO	82383170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.247000	0.51422	2.767000	0.95098	0.563000	0.77884	AGC		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		38	57	0	0	0	1	0	38	57				
ITSN2	50618	broad.mit.edu	37	2	24526684	24526684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:24526684G>A	ENST00000355123.4	-	9	1284	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q281*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q281*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	281	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGCCAGCTGAGTTTGAGAA	0.313																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(841-843)Cag>Tag		intersectin 2							86.0	88.0	88.0					2																	24526684		2203	4300	6503	SO:0001587	stop_gained	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24526684G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.841C>T	2.37:g.24526684G>A	ENSP00000347244:p.Gln281*					ITSN2_ENST00000406921.3_Nonsense_Mutation_p.Q281*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Q281*	p.Q281*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			9	1284	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		281			EH 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	ENST00000355123.4	37	c.841C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	38	6.891022	0.97912	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	.	.	.	4.79	3.91	0.45181	.	0.000000	0.35466	U	0.003186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9828	0.58575	0.0778:0.0:0.9222:0.0	.	.	.	.	X	281;281;281;305;281;306	.	ENSP00000347244:Q281X	Q	-	1	0	ITSN2	24380188	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.915000	0.92740	1.390000	0.46547	0.478000	0.44815	CAG		0.313	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		15	36	0	0	0	1	0	15	36				
SULF2	55959	broad.mit.edu	37	20	46313221	46313221	+	Missense_Mutation	SNP	C	C	T	rs116302994		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr20:46313221C>T	ENST00000359930.4	-	6	1693	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.R281Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R281Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R281Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	281					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						CAAGCGCTTCCGCTGGAGCAT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18284	0.0		0.001	False		,,,				2504	0.0					ENST00000359930.4																			0				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						c.(841-843)cGg>cAg		sulfatase 2		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	126.0	94.0	105.0		842,842,842	4.8	1.0	20	dbSNP_132	105	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	SULF2	NM_001161841.1,NM_018837.3,NM_198596.2	43,43,43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	281/871,281/871,281/868	46313221	3,13003	2203	4300	6503	SO:0001583	missense	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.chr20:46313221C>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.842G>A	20.37:g.46313221C>T	ENSP00000353007:p.Arg281Gln					SULF2_ENST00000484875.1_Missense_Mutation_p.R281Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R281Q|SULF2_ENST00000361612.4_Missense_Mutation_p.R281Q|CTD-2653D5.1_ENST00000526566.2_RNA	p.R281Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			6	1693	-			281					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.842G>A	CCDS13408.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	20.9	4.066014	0.76187	0.0	3.49E-4	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	4.76	4.76	0.60689	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	M	0.61703	1.905	0.50813	D	0.999891	B;B	0.34103	0.437;0.203	B;B	0.25759	0.063;0.036	D	0.92648	0.6130	10	0.41790	T	0.15	-21.3566	12.4607	0.55731	0.0:0.9192:0.0:0.0808	.	281;281	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	Q	281	ENSP00000353007:R281Q;ENSP00000418290:R281Q;ENSP00000354662:R281Q;ENSP00000418442:R281Q	ENSP00000353007:R281Q	R	-	2	0	SULF2	45746628	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	4.784000	0.62411	2.489000	0.83994	0.537000	0.68136	CGG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		4	9	0	0	0	1	0	4	9				
AKT3	10000	broad.mit.edu	37	1	243809322	243809322	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:243809322G>C	ENST00000366539.1	-	5	502	c.302C>G	c.(301-303)gCt>gGt	p.A101G	AKT3_ENST00000366540.1_Missense_Mutation_p.A101G|AKT3_ENST00000336199.5_Missense_Mutation_p.A101G|AKT3_ENST00000263826.5_Missense_Mutation_p.A101G			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	101	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGCCTGGATAGCTTCTGTCCA	0.333																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(301-303)gCt>gGt		v-akt murine thymoma viral oncogene homolog 3							112.0	105.0	108.0					1																	243809322		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243809322G>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.302C>G	1.37:g.243809322G>C	ENSP00000355497:p.Ala101Gly					AKT3_ENST00000366540.1_Missense_Mutation_p.A101G|AKT3_ENST00000336199.5_Missense_Mutation_p.A101G|AKT3_ENST00000263826.5_Missense_Mutation_p.A101G	p.A101G			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		5	502	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	101			PH.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.302C>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401431	0.83120	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	4.78	4.78	0.61160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89487	0.6729	H	0.94183	3.505	0.80722	D	1	D;D	0.59357	0.985;0.981	D;P	0.63113	0.911;0.856	D	0.91465	0.5192	10	0.66056	D	0.02	.	11.3414	0.49535	0.0836:0.0:0.9164:0.0	.	101;101	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	G	101	ENSP00000336943:A101G;ENSP00000355498:A101G;ENSP00000355497:A101G;ENSP00000263826:A101G;ENSP00000447820:A101G	ENSP00000263826:A101G	A	-	2	0	AKT3	241875945	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.061000	0.89467	2.187000	0.69744	0.491000	0.48974	GCT		0.333	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		11	26	0	0	0	1	0	11	26				
KDM5A	5927	broad.mit.edu	37	12	416934	416934	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:416934T>A	ENST00000399788.2	-	23	3978	c.3616A>T	c.(3616-3618)Aaa>Taa	p.K1206*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.K1206*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1206					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTTACTTCTTTAGCTTGCCAG	0.463			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3616-3618)Aaa>Taa		lysine (K)-specific demethylase 5A							100.0	98.0	99.0					12																	416934		1896	4103	5999	SO:0001587	stop_gained	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:416934T>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3616A>T	12.37:g.416934T>A	ENSP00000382688:p.Lys1206*					KDM5A_ENST00000382815.4_Nonsense_Mutation_p.K1206*	p.K1206*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3978	-			1206					A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	c.3616A>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	46	12.753091	0.99693	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	.	.	.	5.66	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.8667	12.3132	0.54940	0.127:0.0:0.0:0.873	.	.	.	.	X	1206	.	ENSP00000372265:K1206X	K	-	1	0	KDM5A	287195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	1.047000	0.40274	0.477000	0.44152	AAA		0.463	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		30	75	0	0	0	1	0	30	75				
CCT8	10694	broad.mit.edu	37	21	30439992	30439992	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:30439992G>A	ENST00000286788.4	-	4	472	c.266C>T	c.(265-267)gCt>gTt	p.A89V	CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.A70V|CCT8_ENST00000540844.1_Missense_Mutation_p.A16V	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	89					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CATATGAGAAGCCATTACAAT	0.388																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.(265-267)gCt>gTt		chaperonin containing TCP1, subunit 8 (theta)							89.0	84.0	85.0					21																	30439992		2203	4300	6503	SO:0001583	missense	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30439992G>A	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.266C>T	21.37:g.30439992G>A	ENSP00000286788:p.Ala89Val					CCT8_ENST00000542732.1_Missense_Mutation_p.A70V|CCT8_ENST00000540844.1_Missense_Mutation_p.A16V|CCT8_ENST00000470450.1_5'UTR	p.A89V	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			4	472	-			89					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.266C>T	CCDS33528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.625653|5.625653	0.96671|0.96671	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844|ENST00000431234	T;T;T|.	0.79940|.	-1.32;-1.32;-1.32|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68915|0.68915	0.3053|0.3053	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.998;0.988;0.998;0.998;0.995|.	D;D;D;D;P|.	0.73708|.	0.981;0.942;0.974;0.957;0.898|.	T|T	0.63301|0.63301	-0.6668|-0.6668	10|5	0.25106|.	T|.	0.35|.	-11.2948|-11.2948	19.8683|19.8683	0.96840|0.96840	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	16;70;89;89;89|.	B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990|.	.;.;.;.;TCPQ_HUMAN|.	V|F	89;89;70;16|81	ENSP00000286788:A89V;ENSP00000444984:A70V;ENSP00000442730:A16V|.	ENSP00000286788:A89V|.	A|L	-|-	2|1	0|0	CCT8|CCT8	29361863|29361863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.466000|9.466000	0.97665|0.97665	2.753000|2.753000	0.94483|0.94483	0.655000|0.655000	0.94253|0.94253	GCT|CTT		0.388	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			10	47	0	0	0	1	0	10	47				
PALD1	27143	broad.mit.edu	37	10	72289648	72289648	+	Missense_Mutation	SNP	C	C	T	rs373966854		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:72289648C>T	ENST00000263563.6	+	4	560	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	98						cytosol (GO:0005829)											CTGCCAGGGCCGCTACTTCCT	0.642																																						ENST00000263563.6																			0											c.(292-294)Cgc>Tgc		phosphatase domain containing, paladin 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	39.0	37.0	38.0		292	4.4	1.0	10		38	0,8600		0,0,4300	no	missense	KIAA1274	NM_014431.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	98/857	72289648	1,13005	2203	4300	6503	SO:0001583	missense	27143							g.chr10:72289648C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.292C>T	10.37:g.72289648C>T	ENSP00000263563:p.Arg98Cys						p.R98C	NM_014431.2	NP_055246.2					4	560	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.292C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608633	0.66558	2.27E-4	0.0	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.31769	1.48	5.35	4.39	0.52855	.	0.246377	0.37809	N	0.001938	T	0.49098	0.1537	M	0.73962	2.25	0.45139	D	0.99815	D	0.76494	0.999	P	0.59424	0.857	T	0.52041	-0.8628	10	0.87932	D	0	-31.821	11.6504	0.51286	0.3301:0.6699:0.0:0.0	.	98	Q9ULE6	PALD_HUMAN	C	98	ENSP00000263563:R98C	ENSP00000263563:R98C	R	+	1	0	KIAA1274	71959654	0.991000	0.36638	1.000000	0.80357	0.691000	0.40173	2.717000	0.47227	2.677000	0.91161	0.563000	0.77884	CGC		0.642	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		14	17	0	0	0	1	0	14	17				
AATK	9625	broad.mit.edu	37	17	79092217	79092217	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:79092217C>G	ENST00000326724.4	-	14	4134	c.4110G>C	c.(4108-4110)gaG>gaC	p.E1370D	AATK_ENST00000417379.1_Missense_Mutation_p.E1267D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1370					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTCTTTACTCTCACCCCCGG	0.647																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(4108-4110)gaG>gaC		apoptosis-associated tyrosine kinase							27.0	35.0	32.0					17																	79092217		2003	4156	6159	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79092217C>G	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.4110G>C	17.37:g.79092217C>G	ENSP00000324196:p.Glu1370Asp					AATK_ENST00000417379.1_Missense_Mutation_p.E1267D	p.E1370D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		14	4134	-	all_neural(118;0.101)		1370					O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.4110G>C	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.843|8.843	0.942633|0.942633	0.18281|0.18281	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000326724|ENST00000417379	T|.	0.77229|.	-1.08|.	3.65|3.65	-2.9|-2.9	0.05648|0.05648	.|.	3.473090|.	0.01205|.	N|.	0.007694|.	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.31392|0.31392	-0.9945|-0.9945	10|5	0.56958|.	D|.	0.05|.	.|.	8.9717|8.9717	0.35910|0.35910	0.0:0.3307:0.5526:0.1167|0.0:0.3307:0.5526:0.1167	.|.	1370|.	Q6ZMQ8|.	LMTK1_HUMAN|.	D|T	1370|1323	ENSP00000324196:E1370D|.	ENSP00000324196:E1370D|.	E|R	-|-	3|2	2|0	AATK|AATK	76706812|76706812	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.186000|-1.186000	0.03070|0.03070	-0.648000|-0.648000	0.05437|0.05437	-0.133000|-0.133000	0.14855|0.14855	GAG|AGA		0.647	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		5	8	0	0	0	1	0	5	8				
TMEM180	79847	broad.mit.edu	37	10	104228878	104228878	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:104228878A>C	ENST00000238936.4	+	3	329	c.92A>C	c.(91-93)aAt>aCt	p.N31T	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.N31T	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	31						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ATCCTGCACAATGTCTTCCTG	0.577																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(91-93)aAt>aCt		transmembrane protein 180							147.0	119.0	129.0					10																	104228878		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104228878A>C	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.92A>C	10.37:g.104228878A>C	ENSP00000238936:p.Asn31Thr					TMEM180_ENST00000369931.3_Missense_Mutation_p.N31T|TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR	p.N31T	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	329	+		Colorectal(252;0.122)	31					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.92A>C	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339628	0.81911	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.85955	-2.05	5.73	5.73	0.89815	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91099	0.7198	M	0.66939	2.045	0.80722	D	1	D;D;P	0.69078	0.997;0.993;0.947	D;D;P	0.73380	0.98;0.956;0.777	D	0.90793	0.4688	9	.	.	.	-1.8335	15.9997	0.80285	1.0:0.0:0.0:0.0	.	31;31;31	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	T	31	ENSP00000238936:N31T	.	N	+	2	0	TMEM180	104218868	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.331000	0.96430	2.189000	0.69895	0.391000	0.25812	AAT		0.577	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		10	41	0	0	0	1	0	10	41				
PPAPDC1A	196051	broad.mit.edu	37	10	122348981	122348981	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:122348981G>T	ENST00000398250.1	+	7	1135	c.783G>T	c.(781-783)ttG>ttT	p.L261F	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L198F|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L251F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	261					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CACCCAGCTTGCCTCTGGAGG	0.572																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(781-783)ttG>ttT		phosphatidic acid phosphatase type 2 domain containing 1A							50.0	57.0	55.0					10																	122348981		2054	4198	6252	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122348981G>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.783G>T	10.37:g.122348981G>T	ENSP00000381302:p.Leu261Phe					PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.L198F|PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.L251F	p.L261F	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	7	1135	+		Lung NSC(174;0.1)|all_lung(145;0.132)	261					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.783G>T	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527699	0.64860	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000369073	T;T;T	0.51325	0.73;0.71;0.73	5.36	4.46	0.54185	.	0.282649	0.27659	N	0.018382	T	0.34542	0.0901	L	0.29908	0.895	0.80722	D	1	P;B	0.39131	0.661;0.087	B;B	0.38755	0.281;0.033	T	0.06826	-1.0805	10	0.09338	T	0.73	-8.5035	14.1979	0.65684	0.0726:0.0:0.9274:0.0	.	198;261	Q5VZY2-2;Q5VZY2	.;PPC1A_HUMAN	F	198;261;261;251	ENSP00000381302:L261F;ENSP00000407979:L261F;ENSP00000358069:L251F	ENSP00000358069:L251F	L	+	3	2	PPAPDC1A	122338971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.460000	0.45031	1.262000	0.44165	-0.150000	0.13652	TTG		0.572	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		15	32	1	0	0.000219431	1	0.00025454	15	32				
SLC8A3	6547	broad.mit.edu	37	14	70634287	70634287	+	Missense_Mutation	SNP	T	T	A	rs143972110	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:70634287T>A	ENST00000381269.2	-	2	1606	c.853A>T	c.(853-855)Att>Ttt	p.I285F	SLC8A3_ENST00000356921.2_Missense_Mutation_p.I285F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I285F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000534137.1_Missense_Mutation_p.I285F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	285					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCATCTCAATGCCCTTAGGG	0.473																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(853-855)Att>Ttt		solute carrier family 8 (sodium/calcium exchanger), member 3							140.0	126.0	131.0					14																	70634287		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634287T>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.853A>T	14.37:g.70634287T>A	ENSP00000370669:p.Ile285Phe					SLC8A3_ENST00000534137.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000528359.1_Missense_Mutation_p.I285F|SLC8A3_ENST00000357887.3_Missense_Mutation_p.I285F|SLC8A3_ENST00000356921.2_Missense_Mutation_p.I285F	p.I285F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1606	-			285					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.853A>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.386961	0.61956	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.37235	1.29;1.21;1.35;1.29;1.35	5.71	5.71	0.89125	.	0.053568	0.85682	N	0.000000	T	0.61388	0.2343	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.968;0.983	D;D;D;D	0.70935	0.962;0.917;0.971;0.971	T	0.64647	-0.6358	10	0.54805	T	0.06	.	15.9916	0.80208	0.0:0.0:0.0:1.0	.	285;285;285;285	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	F	285	ENSP00000349392:I285F;ENSP00000370669:I285F;ENSP00000350560:I285F;ENSP00000436688:I285F;ENSP00000433531:I285F	ENSP00000349392:I285F	I	-	1	0	SLC8A3	69704040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.033000	0.88852	2.168000	0.68352	0.459000	0.35465	ATT		0.473	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			7	45	0	0	0	1	0	7	45				
SLC2A3	6515	broad.mit.edu	37	12	8086490	8086490	+	Silent	SNP	T	T	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:8086490T>A	ENST00000075120.7	-	2	264	c.24A>T	c.(22-24)ccA>ccT	p.P8P		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	8					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P8P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATATCAGAGCTGGGGTGACCT	0.453																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			1	Substitution - coding silent(1)	p.P8P(1)	ovary(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(22-24)ccA>ccT		solute carrier family 2 (facilitated glucose transporter), member 3							83.0	78.0	79.0					12																	8086490		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8086490T>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.24A>T	12.37:g.8086490T>A							p.P8P	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	2	264	-			8					B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.24A>T	CCDS8586.1																																																																																				0.453	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		10	39	0	0	0	1	0	10	39				
SPEM1	374768	broad.mit.edu	37	17	7324689	7324689	+	Missense_Mutation	SNP	C	C	A	rs371446830		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr17:7324689C>A	ENST00000323675.3	+	3	720	c.695C>A	c.(694-696)gCg>gAg	p.A232E	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	232					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GAGGCAGAGGCGGCTCAGTAC	0.647																																						ENST00000323675.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12						c.(694-696)gCg>gAg		spermatid maturation 1							25.0	30.0	29.0					17																	7324689		1983	4132	6115	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324689C>A	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.695C>A	17.37:g.7324689C>A	ENSP00000315554:p.Ala232Glu					RP11-104H15.7_ENST00000575310.1_RNA	p.A232E	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN			3	720	+		Prostate(122;0.173)	232						Missense_Mutation	SNP	ENST00000323675.3	37	c.695C>A	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339673	0.24339	.	.	ENSG00000181323	ENST00000323675	.	.	.	4.8	-6.0	0.02206	.	2.586560	0.01618	N	0.022881	T	0.24198	0.0586	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10132	-1.0643	9	0.29301	T	0.29	0.5794	5.2798	0.15668	0.4713:0.1809:0.0:0.3478	.	232	Q8N4L4	SPEM1_HUMAN	E	232	.	ENSP00000315554:A232E	A	+	2	0	SPEM1	7265413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.803000	0.00759	-1.000000	0.03438	-0.749000	0.03505	GCG		0.647	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		9	20	1	0	0.00621372	1	0.00655265	9	20				
IGDCC4	57722	broad.mit.edu	37	15	65703655	65703655	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr15:65703655G>T	ENST00000352385.2	-	2	333	c.124C>A	c.(124-126)Cca>Aca	p.P42T		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	42	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						ACTTGCAGTGGCCCCACTCCA	0.647																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(124-126)Cca>Aca		immunoglobulin superfamily, DCC subclass, member 4							37.0	36.0	36.0					15																	65703655		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65703655G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.124C>A	15.37:g.65703655G>T	ENSP00000319623:p.Pro42Thr						p.P42T	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			2	333	-			42			Ig-like C2-type 1.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.124C>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089513	0.55968	.	.	ENSG00000103742	ENST00000352385	T	0.67523	-0.27	5.19	5.19	0.71726	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.066369	0.64402	D	0.000010	D	0.85309	0.5667	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88493	0.3077	10	0.66056	D	0.02	-13.7141	16.5052	0.84270	0.0:0.0:1.0:0.0	.	42	Q8TDY8	IGDC4_HUMAN	T	42	ENSP00000319623:P42T	ENSP00000319623:P42T	P	-	1	0	IGDCC4	63490708	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	8.149000	0.89632	2.415000	0.81967	0.563000	0.77884	CCA		0.647	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	15	1	0	0.217242	1	0.217242	5	15				
CXorf56	63932	broad.mit.edu	37	X	118678353	118678353	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:118678353G>A	ENST00000371594.4	-	4	464	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CXorf56_ENST00000320339.4_Missense_Mutation_p.T80M|CXorf56_ENST00000536133.1_Missense_Mutation_p.T115M|CXorf56_ENST00000469448.1_5'Flank	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	129										cervix(1)|endometrium(2)|lung(7)	10						ATATATGTTCGTTTTCCCAAA	0.423																																						ENST00000320339.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(238-240)aCg>aTg		chromosome X open reading frame 56							128.0	110.0	116.0					X																	118678353		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118678353G>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.386C>T	X.37:g.118678353G>A	ENSP00000360652:p.Thr129Met					CXorf56_ENST00000486230.1_Missense_Mutation_p.T129M|CXorf56_ENST00000371594.4_Missense_Mutation_p.T129M|CXorf56_ENST00000476164.1_Missense_Mutation_p.T129M|CXorf56_ENST00000536133.1_Missense_Mutation_p.T115M	p.T80M	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN			4	510	-			129					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.239C>T	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856904	0.51376	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.19087	0.0458	L	0.36672	1.1	0.80722	D	1	P;P	0.41929	0.765;0.765	B;B	0.30572	0.117;0.117	T	0.04140	-1.0974	10	0.46703	T	0.11	-16.2225	16.069	0.80909	0.0:0.0:1.0:0.0	.	115;129	F5GWL7;Q9H5V9	.;CX056_HUMAN	M	129;80;129;115;129	ENSP00000420787:T129M;ENSP00000320345:T80M;ENSP00000360652:T129M;ENSP00000441786:T115M;ENSP00000420635:T129M	ENSP00000320345:T80M	T	-	2	0	CXorf56	118562381	1.000000	0.71417	0.863000	0.33907	0.868000	0.49771	8.959000	0.93110	1.987000	0.57996	0.544000	0.68410	ACG		0.423	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		28	66	0	0	0	1	0	28	66				
GCFC2	6936	broad.mit.edu	37	2	75917824	75917824	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:75917824C>G	ENST00000321027.3	-	8	1299	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.S351T	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	389					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										GAAGTTTCCACTTGTGGATGT	0.289																																						ENST00000321027.3																			0											c.(1165-1167)aGt>aCt		GC-rich sequence DNA-binding factor 2							85.0	93.0	90.0					2																	75917824		2203	4296	6499	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75917824C>G	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1166G>C	2.37:g.75917824C>G	ENSP00000318690:p.Ser389Thr					MRPL19_ENST00000358788.6_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.S351T|GCFC2_ENST00000541687.1_3'UTR	p.S389T	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN			8	1299	-			389					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.1166G>C	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	C	2.976	-0.211363	0.06140	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.14640	2.49;2.49	4.62	1.9	0.25705	.	0.847094	0.10670	N	0.647635	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44817	-0.9303	10	0.15499	T	0.54	-9.7323	4.5701	0.12205	0.0:0.1874:0.1645:0.6481	.	389	P16383	GCF_HUMAN	T	389;351	ENSP00000318690:S389T;ENSP00000386552:S351T	ENSP00000318690:S389T	S	-	2	0	C2orf3	75771332	1.000000	0.71417	0.124000	0.21820	0.008000	0.06430	0.830000	0.27462	0.302000	0.22762	-0.474000	0.04947	AGT		0.289	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		23	83	0	0	0	1	0	23	83				
MACF1	23499	broad.mit.edu	37	1	39815268	39815268	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:39815268C>G	ENST00000372915.3	+	41	11036	c.10949C>G	c.(10948-10950)tCt>tGt	p.S3650C	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.S3645C|MACF1_ENST00000539005.1_Missense_Mutation_p.S1583C|MACF1_ENST00000567887.1_Missense_Mutation_p.S3682C|MACF1_ENST00000545844.1_Missense_Mutation_p.S1583C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2085C|MACF1_ENST00000361689.2_Missense_Mutation_p.S1583C|MACF1_ENST00000317713.7_Missense_Mutation_p.S1583C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3650					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGATCTCTCTGCTTTGCAG	0.498																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(10933-10935)tCt>tGt		microtubule-actin crosslinking factor 1							100.0	105.0	104.0					1																	39815268		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39815268C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10949C>G	1.37:g.39815268C>G	ENSP00000362006:p.Ser3650Cys					MACF1_ENST00000361689.2_Missense_Mutation_p.S1583C|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S3682C|MACF1_ENST00000372915.3_Missense_Mutation_p.S3650C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2085C|MACF1_ENST00000539005.1_Missense_Mutation_p.S1583C|MACF1_ENST00000317713.7_Missense_Mutation_p.S1583C|MACF1_ENST00000545844.1_Missense_Mutation_p.S1583C	p.S3645C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		42	11711	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3650					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.10934C>G		.	.	.	.	.	.	.	.	.	.	C	20.8	4.048335	0.75846	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;T;T	0.63913	1.25;-0.07;1.25;1.25;1.25;1.25;1.03	5.87	5.87	0.94306	.	0.265186	0.29307	N	0.012529	T	0.68851	0.3046	L	0.50333	1.59	0.80722	D	1	D;B;B;B	0.58620	0.983;0.001;0.003;0.001	P;B;B;B	0.51866	0.682;0.007;0.012;0.012	T	0.70905	-0.4745	10	0.72032	D	0.01	.	18.3838	0.90459	0.0:1.0:0.0:0.0	.	3650;1583;1583;1548	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	C	1583;3650;1583;1583;1583;1732;2085	ENSP00000439537:S1583C;ENSP00000362006:S3650C;ENSP00000354573:S1583C;ENSP00000313438:S1583C;ENSP00000444364:S1583C;ENSP00000437059:S1732C;ENSP00000289893:S2085C	ENSP00000289893:S2085C	S	+	2	0	MACF1	39587855	0.012000	0.17670	0.996000	0.52242	0.920000	0.55202	1.517000	0.35867	2.779000	0.95612	0.655000	0.94253	TCT		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		16	31	0	0	0	1	0	16	31				
FBXO21	23014	broad.mit.edu	37	12	117603333	117603333	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:117603333A>C	ENST00000330622.5	-	9	1282	c.1283T>G	c.(1282-1284)cTc>cGc	p.L428R	FBXO21_ENST00000427718.2_Missense_Mutation_p.L428R			O94952	FBX21_HUMAN	F-box protein 21	428					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CCTGGCTTGGAGGAGGAGAAG	0.502																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1282-1284)cTc>cGc		F-box protein 21							125.0	118.0	121.0					12																	117603333		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117603333A>C	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1283T>G	12.37:g.117603333A>C	ENSP00000328187:p.Leu428Arg					FBXO21_ENST00000330622.5_Missense_Mutation_p.L428R	p.L428R	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	9	1357	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		428					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1283T>G	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.767773	0.90020	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	T;T	0.50001	0.78;0.76	6.08	6.08	0.98989	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.974;0.999;1.0	D;P;D;D	0.97110	0.998;0.571;0.996;1.0	T	0.47018	-0.9149	10	0.12766	T	0.61	-9.3825	16.6438	0.85155	1.0:0.0:0.0:0.0	.	284;178;428;428	Q8IUQ5;B3KQC8;O94952;O94952-1	.;.;FBX21_HUMAN;.	R	428;344;284;428;80	ENSP00000414468:L428R;ENSP00000328187:L428R	ENSP00000257563:L344R	L	-	2	0	FBXO21	116087716	1.000000	0.71417	0.964000	0.40570	0.996000	0.88848	8.953000	0.93041	2.333000	0.79357	0.533000	0.62120	CTC		0.502	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		24	55	0	0	0	1	0	24	55				
TOR1AIP2	163590	broad.mit.edu	37	1	179820467	179820467	+	Silent	SNP	T	T	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:179820467T>A	ENST00000367612.3	-	4	453	c.66A>T	c.(64-66)tcA>tcT	p.S22S	TOR1AIP2_ENST00000609928.1_Silent_p.S22S	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAGAATTTACTGATGGATCAT	0.368																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(64-66)tcA>tcT		torsin A interacting protein 2							90.0	89.0	89.0					1																	179820467		2202	4300	6502	SO:0001819	synonymous_variant	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820467T>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.66A>T	1.37:g.179820467T>A							p.S22S	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	453	-			22					Q05BU2	Silent	SNP	ENST00000367612.3	37	c.66A>T	CCDS1334.1																																																																																				0.368	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		4	68	0	0	0	1	0	4	68				
FAT3	120114	broad.mit.edu	37	11	92590447	92590447	+	Silent	SNP	C	C	A	rs554596112		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:92590447C>A	ENST00000298047.6	+	19	11450	c.11433C>A	c.(11431-11433)gtC>gtA	p.V3811V	FAT3_ENST00000409404.2_Silent_p.V3811V|FAT3_ENST00000533797.1_Silent_p.V146V|FAT3_ENST00000525166.1_Silent_p.V3661V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3811	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCAGTGTGTCAGTTATGAAG	0.542										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				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						c.(11431-11433)gtC>gtA		FAT atypical cadherin 3							115.0	123.0	120.0					11																	92590447		2028	4192	6220	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92590447C>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.11433C>A	11.37:g.92590447C>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Silent_p.V146V|FAT3_ENST00000525166.1_Silent_p.V3661V|FAT3_ENST00000409404.2_Silent_p.V3811V	p.V3811V			Q8TDW7	FAT3_HUMAN			19	11450	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3811			EGF-like 1.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.11433C>A																																																																																					0.542	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	34	1	0	0.00621372	1	0.00655265	7	34				
TMEM8A	58986	broad.mit.edu	37	16	437314	437314	+	5'Flank	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:437314G>T	ENST00000476735.1	-	0	0				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						gccaagcatggtggcatgtgt	0.438																																						ENST00000412293.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:437314G>T	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996		16.37:g.437314G>T	Exception_encountered							NR_024453.2						0	521	+								D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	SNP	ENST00000476735.1	37																																																																																						0.438	TMEM8A-007	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000313680.1	NM_021259		3	6	1	0	6.4e-05	1	7.57551e-05	3	6				
NR3C2	4306	broad.mit.edu	37	4	149181195	149181195	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:149181195G>A	ENST00000358102.3	-	3	2194	c.1832C>T	c.(1831-1833)tCa>tTa	p.S611L	NR3C2_ENST00000355292.3_Missense_Mutation_p.S611L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S611L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S611L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S611L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	611					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGGCATCCTGAAGCCTCATC	0.403																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1831-1833)tCa>tTa		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						139.0	130.0	133.0					4																	149181195		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149181195G>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1832C>T	4.37:g.149181195G>A	ENSP00000350815:p.Ser611Leu					NR3C2_ENST00000342437.4_Missense_Mutation_p.S611L|NR3C2_ENST00000358102.3_Missense_Mutation_p.S611L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S611L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S611L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S611L	p.S611L			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	3	2194	-	all_hematologic(180;0.151)		611					B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.1832C>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834677	0.91036	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68;-4.68;-4.68	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98521	1.0623	9	.	.	.	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	611;611	B0ZBF5;B0ZBF6	.;.	L	611	ENSP00000341390:S611L;ENSP00000347441:S611L;ENSP00000350815:S611L;ENSP00000423510:S611L;ENSP00000343907:S611L;ENSP00000421481:S611L	.	S	-	2	0	NR3C2	149400645	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.869000	0.99810	2.838000	0.97847	0.591000	0.81541	TCA		0.403	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			13	78	0	0	0	1	0	13	78				
AXL	558	broad.mit.edu	37	19	41745622	41745622	+	Silent	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:41745622C>T	ENST00000301178.4	+	10	1499	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L	AXL_ENST00000593513.1_Silent_p.L169L|AXL_ENST00000359092.3_Intron	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	437					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGTCCACCAGCTGGGTAAGGG	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1309-1311)Ctg>Ttg		AXL receptor tyrosine kinase							283.0	232.0	249.0					19																	41745622		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41745622C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1309C>T	19.37:g.41745622C>T						AXL_ENST00000593513.1_Silent_p.L169L|AXL_ENST00000359092.3_Intron	p.L437L	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			10	1499	+			437					Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.1309C>T	CCDS12575.1																																																																																				0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			17	116	0	0	0	1	0	17	116				
ATF6	22926	broad.mit.edu	37	1	161789484	161789484	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr1:161789484G>A	ENST00000367942.3	+	8	1038	c.971G>A	c.(970-972)cGc>cAc	p.R324H		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	324	Basic motif.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGTCAGTCTCGCAAGAAGAAG	0.403																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(970-972)cGc>cAc		activating transcription factor 6							69.0	68.0	69.0					1																	161789484		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161789484G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.971G>A	1.37:g.161789484G>A	ENSP00000356919:p.Arg324His						p.R324H	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		8	1038	+	all_hematologic(112;0.156)		324					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.971G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914850	0.92178	.	.	ENSG00000118217	ENST00000367942	D	0.94232	-3.38	5.19	5.19	0.71726	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	H	0.97440	4.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99334	1.0910	9	0.87932	D	0	-21.4576	16.2232	0.82269	0.0:0.0:1.0:0.0	.	324;325	P18850;Q59H30	ATF6A_HUMAN;.	H	324	ENSP00000356919:R324H	ENSP00000356919:R324H	R	+	2	0	ATF6	160056108	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	8.517000	0.90555	2.408000	0.81797	0.650000	0.86243	CGC		0.403	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		6	58	0	0	0	1	0	6	58				
CNBD1	168975	broad.mit.edu	37	8	87878731	87878731	+	Missense_Mutation	SNP	T	T	C	rs113899610	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr8:87878731T>C	ENST00000518476.1	+	1	59	c.8T>C	c.(7-9)aTg>aCg	p.M3T		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	3										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGATGCCGATGTCTTCTCTT	0.458													T|||	2	0.000399361	0.0015	0.0	5008	,	,		20451	0.0		0.0	False		,,,				2504	0.0					ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(7-9)aTg>aCg		cyclic nucleotide binding domain containing 1		T	THR/MET	2,3914		0,2,1956	99.0	92.0	94.0		8	2.3	0.0	8	dbSNP_132	94	0,8306		0,0,4153	no	missense	CNBD1	NM_173538.2	81	0,2,6109	CC,CT,TT		0.0,0.0511,0.0164	benign	3/437	87878731	2,12220	1958	4153	6111	SO:0001583	missense	168975							g.chr8:87878731T>C	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.8T>C	8.37:g.87878731T>C	ENSP00000430073:p.Met3Thr						p.M3T	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			1	59	+			3						Missense_Mutation	SNP	ENST00000518476.1	37	c.8T>C	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	T	6.858	0.527618	0.13127	5.11E-4	0.0	ENSG00000176571	ENST00000518476	T	0.18016	2.24	4.78	2.29	0.28610	.	0.781667	0.11272	N	0.581321	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.20767	0.031	T	0.31586	-0.9938	10	0.52906	T	0.07	.	7.5714	0.27909	0.3418:0.0:0.0:0.6582	.	3	Q8NA66	CNBD1_HUMAN	T	3	ENSP00000430073:M3T	ENSP00000430073:M3T	M	+	2	0	CNBD1	87947847	0.002000	0.14202	0.017000	0.16124	0.904000	0.53231	0.670000	0.25157	0.363000	0.24346	0.460000	0.39030	ATG		0.458	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		5	20	0	0	0	1	0	5	20				
KIRREL2	84063	broad.mit.edu	37	19	36348367	36348367	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:36348367T>A	ENST00000360202.5	+	2	380	c.182T>A	c.(181-183)cTg>cAg	p.L61Q	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.L61Q|KIRREL2_ENST00000262625.7_Missense_Mutation_p.L61Q|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	61	Ig-like C2-type 1.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGAGTGGGCTGGCCCTAGGG	0.652																																						ENST00000360202.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(181-183)cTg>cAg		kin of IRRE like 2 (Drosophila)							45.0	53.0	50.0					19																	36348367		2203	4299	6502	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348367T>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.182T>A	19.37:g.36348367T>A	ENSP00000353331:p.Leu61Gln					KIRREL2_ENST00000262625.7_Missense_Mutation_p.L61Q|KIRREL2_ENST00000586102.2_Missense_Mutation_p.L61Q|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.L61Q|NPHS1_ENST00000591817.1_Intron	p.L61Q	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	380	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		61			Ig-like C2-type 1.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.182T>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683224	0.88542	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.64260	-0.09;-0.09	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37483	N	0.002062	T	0.76090	0.3939	M	0.67625	2.065	0.42095	D	0.991315	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.79067	-0.1955	10	0.87932	D	0	-11.5846	12.0611	0.53562	0.0:0.0:0.0:1.0	.	61;61;61	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	Q	61	ENSP00000262625:L61Q;ENSP00000353331:L61Q	ENSP00000262625:L61Q	L	+	2	0	KIRREL2	41040207	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.417000	0.73337	2.159000	0.67721	0.529000	0.55759	CTG		0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		16	58	0	0	0	1	0	16	58				
CTTNBP2	83992	broad.mit.edu	37	7	117432749	117432749	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:117432749G>T	ENST00000160373.3	-	4	592	c.501C>A	c.(499-501)aaC>aaA	p.N167K	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	167					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACCTGCTTGTTCTTGCCAC	0.522																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(499-501)aaC>aaA		cortactin binding protein 2							101.0	95.0	97.0					7																	117432749		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432749G>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.501C>A	7.37:g.117432749G>T	ENSP00000160373:p.Asn167Lys					CTTNBP2_ENST00000487820.1_5'UTR	p.N167K	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	592	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		167					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.501C>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568142	0.28003	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375	T;T;T	0.42900	0.96;0.96;0.96	5.77	2.97	0.34412	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	M	0.62723	1.935	0.45490	D	0.998458	D	0.89917	1.0	D	0.87578	0.998	T	0.56159	-0.8025	10	0.72032	D	0.01	-0.0647	7.3908	0.26909	0.412:0.0:0.588:0.0	.	167	Q8WZ74	CTTB2_HUMAN	K	167;125;125	ENSP00000160373:N167K;ENSP00000396014:N125K;ENSP00000405831:N125K	ENSP00000160373:N167K	N	-	3	2	CTTNBP2	117219985	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	0.715000	0.25822	0.920000	0.36970	-0.127000	0.14921	AAC		0.522	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		16	78	1	0	5.01169e-05	1	5.99337e-05	16	78				
SEC24C	9632	broad.mit.edu	37	10	75529481	75529481	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:75529481C>G	ENST00000339365.2	+	20	2834	c.2672C>G	c.(2671-2673)tCt>tGt	p.S891C	SEC24C_ENST00000540668.1_Missense_Mutation_p.S139C|SEC24C_ENST00000535742.1_Missense_Mutation_p.S139C|SEC24C_ENST00000411652.2_Missense_Mutation_p.S772C|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000345254.4_Missense_Mutation_p.S891C|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	891					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGCCCCTCCTCTGCAGGACAG	0.502																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(2671-2673)tCt>tGt		SEC24 family member C							71.0	71.0	71.0					10																	75529481		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75529481C>G	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2672C>G	10.37:g.75529481C>G	ENSP00000343405:p.Ser891Cys					SEC24C_ENST00000540668.1_Missense_Mutation_p.S139C|SEC24C_ENST00000535742.1_Missense_Mutation_p.S139C|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.S891C|SEC24C_ENST00000411652.2_Missense_Mutation_p.S772C	p.S891C	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			20	2834	+	Prostate(51;0.0112)		891					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2672C>G	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898294	0.72639	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66	5.58	5.58	0.84498	Sec23/Sec24, helical domain (2);	0.048251	0.85682	D	0.000000	D	0.96087	0.8725	M	0.88906	2.99	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.70016	0.91;0.967	D	0.95735	0.8778	10	0.49607	T	0.09	-6.124	19.5474	0.95305	0.0:1.0:0.0:0.0	.	772;891	E7EP00;P53992	.;SC24C_HUMAN	C	139;891;139;891;772	ENSP00000446174:S139C;ENSP00000321845:S891C;ENSP00000445023:S139C;ENSP00000343405:S891C;ENSP00000402913:S772C	ENSP00000343405:S891C	S	+	2	0	SEC24C	75199487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.029000	0.70895	2.629000	0.89072	0.484000	0.47621	TCT		0.502	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			6	52	0	0	0	1	0	6	52				
GNAI2	2771	broad.mit.edu	37	3	50290538	50290538	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:50290538G>A	ENST00000313601.6	+	4	770	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	GNAI2_ENST00000536647.1_Missense_Mutation_p.R48Q|GNAI2_ENST00000440628.1_Missense_Mutation_p.R77Q|GNAI2_ENST00000451956.1_Missense_Mutation_p.R92Q|GNAI2_ENST00000266027.5_Missense_Mutation_p.R113Q|GNAI2_ENST00000422163.1_Missense_Mutation_p.R113Q|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	129					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GGCGTCATCCGGAGGCTCTGG	0.642																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(385-387)cGg>cAg		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							164.0	151.0	156.0					3																	50290538		2203	4300	6503	SO:0001583	missense	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50290538G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.386G>A	3.37:g.50290538G>A	ENSP00000312999:p.Arg129Gln					GNAI2_ENST00000536647.1_Missense_Mutation_p.R48Q|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.R77Q|GNAI2_ENST00000266027.5_Missense_Mutation_p.R113Q|GNAI2_ENST00000422163.1_Missense_Mutation_p.R113Q|GNAI2_ENST00000451956.1_Missense_Mutation_p.R92Q	p.R129Q	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	770	+			129					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	ENST00000313601.6	37	c.386G>A	CCDS2813.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489981	0.64074	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.21	4.25	0.50352	G protein alpha subunit, helical insertion (2);	0.249150	0.41194	D	0.000923	T	0.78929	0.4361	N	0.12853	0.265	0.51233	D	0.999916	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.12156	0.004;0.003;0.007;0.004	T	0.74115	-0.3769	10	0.42905	T	0.14	.	12.7043	0.57051	0.0:0.0:0.8347:0.1653	.	92;129;113;113	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	Q	113;129;48;129;77;92;113	ENSP00000406871:R113Q;ENSP00000312999:R129Q;ENSP00000444360:R48Q;ENSP00000395736:R77Q;ENSP00000406369:R92Q;ENSP00000266027:R113Q	ENSP00000266027:R113Q	R	+	2	0	GNAI2	50265542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.251000	0.43187	2.815000	0.96918	0.561000	0.74099	CGG		0.642	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		57	127	0	0	0	1	0	57	127				
PLA2G7	7941	broad.mit.edu	37	6	46678365	46678365	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:46678365C>T	ENST00000274793.7	-	8	890	c.694G>A	c.(694-696)Gct>Act	p.A232T	PLA2G7_ENST00000537365.1_Missense_Mutation_p.A232T|PLA2G7_ENST00000541026.1_Missense_Mutation_p.A105T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A187T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	232					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGACTGAGAGCTTGGGAACAT	0.313																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(694-696)Gct>Act		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							108.0	106.0	107.0					6																	46678365		2203	4299	6502	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678365C>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.694G>A	6.37:g.46678365C>T	ENSP00000274793:p.Ala232Thr					PLA2G7_ENST00000541026.1_Missense_Mutation_p.A105T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A232T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A187T	p.A232T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		8	890	-			232					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.694G>A	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393470	0.96009	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.68593	2.085	0.80722	D	1	D;P;D;D	0.89917	1.0;0.953;1.0;1.0	D;P;D;D	0.97110	1.0;0.649;1.0;1.0	T	0.62576	-0.6825	10	0.29301	T	0.29	.	20.1672	0.98154	0.0:1.0:0.0:0.0	.	105;187;232;232	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	T	232;232;187;105	ENSP00000274793:A232T;ENSP00000445666:A232T;ENSP00000441416:A187T;ENSP00000444164:A105T	ENSP00000274793:A232T	A	-	1	0	PLA2G7	46786324	1.000000	0.71417	0.969000	0.41365	0.862000	0.49288	7.034000	0.76511	2.861000	0.98227	0.655000	0.94253	GCT		0.313	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			16	39	0	0	0	1	0	16	39				
RNF32	140545	broad.mit.edu	37	7	156469181	156469181	+	Silent	SNP	C	C	T	rs373560241		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:156469181C>T	ENST00000405335.1	+	10	1330	c.921C>T	c.(919-921)cgC>cgT	p.R307R	LMBR1_ENST00000430825.2_5'UTR|RNF32_ENST00000317955.5_Silent_p.R307R|RNF32_ENST00000392743.2_Silent_p.R307R|RNF32_ENST00000432459.2_Silent_p.R307R|RNF32_ENST00000343665.4_Silent_p.R283R|RNF32_ENST00000311822.8_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	307			R -> C (in dbSNP:rs2302146).			aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GCGGTCAGCGCGTGGGTGCAG	0.667																																						ENST00000405335.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(919-921)cgC>cgT		ring finger protein 32		C	,,	0,4406		0,0,2203	47.0	41.0	43.0		921,921,921	-7.8	0.0	7		43	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	RNF32	NM_001184996.1,NM_001184997.1,NM_030936.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	307/363,307/363,307/363	156469181	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156469181C>T		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.921C>T	7.37:g.156469181C>T						RNF32_ENST00000392743.2_Silent_p.R307R|RNF32_ENST00000343665.4_Silent_p.R283R|RNF32_ENST00000317955.5_Silent_p.R307R|RNF32_ENST00000311822.8_3'UTR|RNF32_ENST00000432459.2_Silent_p.R307R|AC005534.9_ENST00000430825.1_RNA	p.R307R			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	10	1330	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	307		R -> C (in dbSNP:rs2302146).			Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Silent	SNP	ENST00000405335.1	37	c.921C>T	CCDS5944.1																																																																																				0.667	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		6	20	0	0	0	1	0	6	20				
CNTN3	5067	broad.mit.edu	37	3	74315728	74315728	+	Silent	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:74315728G>A	ENST00000263665.6	-	21	2917	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	964	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.L964M(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTAATGGGCAGCACAAGTTCA	0.393																																						ENST00000263665.6																			1	Substitution - Missense(1)	p.L964M(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2890-2892)Ctg>Ttg		contactin 3 (plasmacytoma associated)							263.0	239.0	247.0					3																	74315728		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74315728G>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2890C>T	3.37:g.74315728G>A						CNTN3_ENST00000477856.1_5'UTR	p.L964L	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	21	2917	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	964			Fibronectin type-III 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2890C>T	CCDS33790.1																																																																																				0.393	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		4	140	0	0	0	1	0	4	140				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	155	0	0	0	1	0	5	155				
MUC5B	727897	broad.mit.edu	37	11	1271515	1271515	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:1271515G>A	ENST00000529681.1	+	31	13463	c.13405G>A	c.(13405-13407)Gcc>Acc	p.A4469T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4472T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4469	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACGGCCACCGCCTCCTCCAC	0.672																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13414-13416)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming							43.0	53.0	49.0					11																	1271515		1987	4100	6087	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271515G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13405G>A	11.37:g.1271515G>A	ENSP00000436812:p.Ala4469Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4469T	p.A4472T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13472	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4469			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13414G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	7.670	0.686753	0.14973	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16897	2.31;2.5	1.68	-3.36	0.04913	.	.	.	.	.	T	0.09598	0.0236	L	0.27053	0.805	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.04013	0.001;0.001	T	0.33163	-0.9879	9	0.87932	D	0	.	3.6418	0.08170	0.0:0.1991:0.5134:0.2875	.	4942;4472	A7Y9J9;E9PBJ0	.;.	T	4469;4472;4413;4319;248	ENSP00000436812:A4469T;ENSP00000415793:A4472T	ENSP00000343037:A4413T	A	+	1	0	MUC5B	1228091	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-1.443000	0.02405	-0.754000	0.04715	0.121000	0.15741	GCC		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		19	63	0	0	0	1	0	19	63				
SCG2	7857	broad.mit.edu	37	2	224462648	224462648	+	Silent	SNP	C	C	T	rs143843249	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:224462648C>T	ENST00000305409.2	-	2	1585	c.1353G>A	c.(1351-1353)tcG>tcA	p.S451S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGGAAAATACGACGTTTTCT	0.488													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19932	0.0		0.0	False		,,,				2504	0.0					ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1351-1353)tcG>tcA		secretogranin II		C		4,4402	8.1+/-20.4	0,4,2199	106.0	107.0	107.0		1353	-2.9	0.5	2	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCG2	NM_003469.4		0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384		451/618	224462648	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462648C>T	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1353G>A	2.37:g.224462648C>T							p.S451S	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1585	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	451					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.1353G>A	CCDS2457.1																																																																																				0.488	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		26	61	0	0	0	1	0	26	61				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	56	0	0	0	1	0	3	56				
FAT4	79633	broad.mit.edu	37	4	126370935	126370935	+	Missense_Mutation	SNP	G	G	T	rs553689367		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:126370935G>T	ENST00000394329.3	+	9	8777	c.8764G>T	c.(8764-8766)Gcc>Tcc	p.A2922S	FAT4_ENST00000335110.5_Missense_Mutation_p.A1220S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2922	Cadherin 28. {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						CAGGATTAATGCCACCACTGG	0.348																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(8764-8766)Gcc>Tcc		FAT atypical cadherin 4							58.0	62.0	61.0					4																	126370935		2203	4297	6500	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370935G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8764G>T	4.37:g.126370935G>T	ENSP00000377862:p.Ala2922Ser					FAT4_ENST00000335110.5_Missense_Mutation_p.A1220S	p.A2922S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	8777	+			2922			Cadherin 28.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8764G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151742	0.57151	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.000000	0.34110	U	0.004256	T	0.01592	0.0051	N	0.04335	-0.225	0.48901	D	0.999723	B;D;P	0.54047	0.141;0.964;0.955	B;P;P	0.49276	0.041;0.605;0.6	T	0.74691	-0.3580	10	0.10111	T	0.7	.	14.2825	0.66221	0.0:0.0:0.8513:0.1487	.	1220;2922;2922	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	2922;1220	ENSP00000377862:A2922S;ENSP00000335169:A1220S	ENSP00000335169:A1220S	A	+	1	0	FAT4	126590385	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.937000	0.63513	2.664000	0.90586	0.655000	0.94253	GCC		0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		27	54	1	0	1.77063e-15	1	2.25707e-15	27	54				
MUT	4594	broad.mit.edu	37	6	49425723	49425723	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:49425723C>A	ENST00000274813.3	-	3	561	c.434G>T	c.(433-435)gGc>gTc	p.G145V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	145			G -> S (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAATCATAGCCACGATGTGT	0.403																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(433-435)gGc>gTc		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68.0	69.0	69.0					6																	49425723		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425723C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.434G>T	6.37:g.49425723C>A	ENSP00000274813:p.Gly145Val						p.G145V	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			3	561	-	Lung NSC(77;0.0376)		145		G -> S (in MMAM; mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.434G>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605891	0.87157	.	.	ENSG00000146085	ENST00000274813	D	0.99494	-6.01	5.55	5.55	0.83447	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	10	0.87932	D	0	-13.2808	18.8429	0.92192	0.0:1.0:0.0:0.0	.	145	P22033	MUTA_HUMAN	V	145	ENSP00000274813:G145V	ENSP00000274813:G145V	G	-	2	0	MUT	49533682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.769000	0.95229	0.491000	0.48974	GGC		0.403	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			21	48	1	0	3.28513e-13	1	4.09758e-13	21	48				
ITPRIP	85450	broad.mit.edu	37	10	106075031	106075031	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr10:106075031G>T	ENST00000337478.1	-	2	950	c.779C>A	c.(778-780)aCc>aAc	p.T260N	ITPRIP_ENST00000358187.2_Missense_Mutation_p.T260N|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.T260N	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	260						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCCGAGCTTGGTCTTGCCGCA	0.642																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(778-780)aCc>aAc		inositol 1,4,5-trisphosphate receptor interacting protein							50.0	50.0	50.0					10																	106075031		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075031G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.779C>A	10.37:g.106075031G>T	ENSP00000337178:p.Thr260Asn					ITPRIP_ENST00000337478.1_Missense_Mutation_p.T260N|ITPRIP_ENST00000358187.2_Missense_Mutation_p.T260N	p.T260N	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1231	-			260					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.779C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648385	0.67358	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.22945	1.93;1.93;1.93	5.25	5.25	0.73442	.	0.107907	0.64402	D	0.000006	T	0.42539	0.1207	M	0.65975	2.015	0.42338	D	0.992322	D	0.57899	0.981	P	0.52267	0.694	T	0.30416	-0.9979	10	0.46703	T	0.11	-30.7722	19.2093	0.93747	0.0:0.0:1.0:0.0	.	260	Q8IWB1	IPRI_HUMAN	N	260	ENSP00000337178:T260N;ENSP00000278071:T260N;ENSP00000350915:T260N	ENSP00000278071:T260N	T	-	2	0	ITPRIP	106065021	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.366000	0.73095	2.601000	0.87937	0.467000	0.42956	ACC		0.642	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		5	47	1	0	3.59834e-05	1	4.34799e-05	5	47				
PI4KA	5297	broad.mit.edu	37	22	21167790	21167790	+	Silent	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr22:21167790G>A	ENST00000572273.1	-	8	917	c.687C>T	c.(685-687)tcC>tcT	p.S229S	PI4KA_ENST00000255882.6_Silent_p.S287S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	229					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGGGCAAGCAGGAGGCTGGTG	0.517																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(859-861)tcC>tcT		phosphatidylinositol 4-kinase, catalytic, alpha							56.0	58.0	57.0					22																	21167790		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21167790G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.687C>T	22.37:g.21167790G>A						PI4KA_ENST00000572273.1_Silent_p.S229S	p.S287S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		8	947	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	229					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.861C>T																																																																																					0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		3	31	0	0	0	1	0	3	31				
OR51A4	401666	broad.mit.edu	37	11	4967661	4967661	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:4967661T>C	ENST00000380373.2	-	1	695	c.670A>G	c.(670-672)Aag>Gag	p.K224E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTACAGTCTTGAGGATCAGG	0.423																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(670-672)Aag>Gag		olfactory receptor, family 51, subfamily A, member 4							99.0	85.0	90.0					11																	4967661		2201	4295	6496	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967661T>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.670A>G	11.37:g.4967661T>C	ENSP00000369731:p.Lys224Glu					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.K224E	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	695	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	224						Missense_Mutation	SNP	ENST00000380373.2	37	c.670A>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575168	0.45902	.	.	ENSG00000205497	ENST00000380373	T	0.38722	1.12	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68293	0.2985	M	0.93197	3.39	0.09310	N	1	D	0.67145	0.996	D	0.67900	0.954	T	0.59311	-0.7478	9	0.72032	D	0.01	.	7.9108	0.29789	0.0:0.0:0.2092:0.7907	.	224	Q8NGJ6	O51A4_HUMAN	E	224	ENSP00000369731:K224E	ENSP00000369731:K224E	K	-	1	0	OR51A4	4924237	0.000000	0.05858	0.011000	0.14972	0.949000	0.60115	-0.220000	0.09215	1.571000	0.49722	0.392000	0.25879	AAG		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		9	34	0	0	0	1	0	9	34				
MXRA5	25878	broad.mit.edu	37	X	3240713	3240713	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chrX:3240713G>T	ENST00000217939.6	-	5	3167	c.3013C>A	c.(3013-3015)Ccc>Acc	p.P1005T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1005						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGATGGTGGGGGTTGGAGTA	0.463																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3013-3015)Ccc>Acc		matrix-remodelling associated 5							189.0	149.0	162.0					X																	3240713		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240713G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3013C>A	X.37:g.3240713G>T	ENSP00000217939:p.Pro1005Thr						p.P1005T	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3167	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1005					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3013C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	2.033	-0.422021	0.04734	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61980	0.06	3.33	1.44	0.22558	.	0.899723	0.09141	N	0.842904	T	0.40839	0.1133	N	0.17082	0.46	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.23833	-1.0177	10	0.21014	T	0.42	.	5.4309	0.16452	0.1109:0.0:0.6898:0.1993	.	1005	Q9NR99	MXRA5_HUMAN	T	1005	ENSP00000217939:P1005T	ENSP00000217939:P1005T	P	-	1	0	MXRA5	3250713	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.006000	0.12833	0.402000	0.25451	0.529000	0.55759	CCC		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		16	39	1	0	6.94344e-10	1	8.5685e-10	16	39				
KCNE3	10008	broad.mit.edu	37	11	74168427	74168427	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:74168427A>T	ENST00000310128.4	-	3	601	c.182T>A	c.(181-183)aTt>aAt	p.I61N	RP11-702H23.6_ENST00000530510.1_RNA|RP11-702H23.4_ENST00000533008.1_RNA|KCNE3_ENST00000525550.1_Missense_Mutation_p.I61N	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	61					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GACAAAGAGAATGTACATGTA	0.557																																						ENST00000310128.4																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(181-183)aTt>aAt		potassium voltage-gated channel, Isk-related family, member 3							83.0	71.0	75.0					11																	74168427		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168427A>T	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.182T>A	11.37:g.74168427A>T	ENSP00000310557:p.Ile61Asn					KCNE3_ENST00000525550.1_Missense_Mutation_p.I61N|RP11-702H23.4_ENST00000533008.1_RNA	p.I61N	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	601	-	Breast(11;2.86e-06)		61						Missense_Mutation	SNP	ENST00000310128.4	37	c.182T>A	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328746	0.81690	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569	D;D;D	0.94330	-3.4;-3.4;-3.4	5.33	5.33	0.75918	.	0.070924	0.64402	D	0.000020	D	0.95351	0.8491	M	0.78456	2.415	0.47441	D	0.999421	P	0.51791	0.948	P	0.55455	0.776	D	0.95713	0.8759	10	0.87932	D	0	-39.3509	13.2999	0.60319	1.0:0.0:0.0:0.0	.	61	Q9Y6H6	KCNE3_HUMAN	N	61	ENSP00000310557:I61N;ENSP00000433633:I61N;ENSP00000431739:I61N	ENSP00000310557:I61N	I	-	2	0	KCNE3	73846075	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.836000	0.69375	2.237000	0.73441	0.459000	0.35465	ATT		0.557	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		9	28	0	0	0	1	0	9	28				
KIF21A	55605	broad.mit.edu	37	12	39760856	39760856	+	Silent	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:39760856G>A	ENST00000361418.5	-	5	726	c.711C>T	c.(709-711)acC>acT	p.T237T	KIF21A_ENST00000541463.2_Silent_p.T237T|KIF21A_ENST00000395670.3_Silent_p.T237T|KIF21A_ENST00000544797.2_Silent_p.T237T|KIF21A_ENST00000361961.3_Silent_p.T237T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	237	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GACACACTCTGGTTTGACACA	0.378																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(709-711)acC>acT		kinesin family member 21A							132.0	120.0	124.0					12																	39760856		2203	4300	6503	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760856G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.711C>T	12.37:g.39760856G>A						KIF21A_ENST00000361418.5_Silent_p.T237T|KIF21A_ENST00000541463.2_Silent_p.T237T|KIF21A_ENST00000544797.2_Silent_p.T237T|KIF21A_ENST00000361961.3_Silent_p.T237T	p.T237T			Q7Z4S6	KI21A_HUMAN			5	1130	-		Lung NSC(34;0.179)|all_lung(34;0.213)	237			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.711C>T	CCDS53776.1																																																																																				0.378	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		6	46	0	0	0	1	0	6	46				
LAMA2	3908	broad.mit.edu	37	6	129636711	129636711	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:129636711G>C	ENST00000421865.2	+	25	3695	c.3646G>C	c.(3646-3648)Gag>Cag	p.E1216Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1216	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAACATCCAGAGATTGTTGC	0.473																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3646-3648)Gag>Cag		laminin, alpha 2							142.0	130.0	134.0					6																	129636711		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129636711G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3646G>C	6.37:g.129636711G>C	ENSP00000400365:p.Glu1216Gln						p.E1216Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	25	3695	+			1216			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3646G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097819	0.56075	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34275	1.37	5.76	5.76	0.90799	Laminin B type IV (1);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	T	0.31668	-0.9935	10	0.36615	T	0.2	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	1216;1216	A6NF00;P24043	.;LAMA2_HUMAN	Q	1216	ENSP00000400365:E1216Q	ENSP00000346769:E1216Q	E	+	1	0	LAMA2	129678404	1.000000	0.71417	0.900000	0.35374	0.003000	0.03518	9.405000	0.97313	2.871000	0.98454	0.655000	0.94253	GAG		0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			3	73	0	0	0	1	0	3	73				
NFAM1	150372	broad.mit.edu	37	22	42807644	42807644	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr22:42807644G>T	ENST00000329021.5	-	2	257	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	74	Ig-like V-type.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						ACCTTGAATTGGGGAGTGTAT	0.542																																						ENST00000329021.5																			0				large_intestine(1)|lung(3)	4						c.(220-222)Caa>Aaa		NFAT activating protein with ITAM motif 1							142.0	127.0	132.0					22																	42807644		2203	4300	6503	SO:0001583	missense	150372				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chr22:42807644G>T	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.220C>A	22.37:g.42807644G>T	ENSP00000333680:p.Gln74Lys						p.Q74K	NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN			2	257	-			74			Ig-like V-type.		B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	ENST00000329021.5	37	c.220C>A	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.566073	0.00903	.	.	ENSG00000235568	ENST00000329021	T	0.41400	1.0	4.79	-9.58	0.00559	Immunoglobulin subtype (1);	3.801110	0.02020	N	0.047692	T	0.16599	0.0399	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25152	-1.0140	10	0.05833	T	0.94	2.1107	10.4868	0.44726	0.0:0.1327:0.2616:0.6056	.	74	Q8NET5	NFAM1_HUMAN	K	74	ENSP00000333680:Q74K	ENSP00000333680:Q74K	Q	-	1	0	NFAM1	41137588	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-6.877000	0.00051	-3.410000	0.00169	-0.479000	0.04858	CAA		0.542	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	NM_145912		5	58	1	0	0.0215528	1	0.022125	5	58				
COL4A3BP	10087	broad.mit.edu	37	5	74685512	74685512	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr5:74685512C>G	ENST00000405807.4	-	12	1610	c.1189G>C	c.(1189-1191)Gtt>Ctt	p.V397L	COL4A3BP_ENST00000380494.5_Splice_Site_p.V525L|COL4A3BP_ENST00000261415.7_Splice_Site_p.V371L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	397	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTCTTCAACCTTGAGAAGG	0.408																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.e13-1		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							107.0	95.0	99.0					5																	74685512		2203	4300	6503	SO:0001630	splice_region_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74685512C>G	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1189-1G>C	5.37:g.74685512C>G						COL4A3BP_ENST00000261415.7_Splice_Site_p.V371_splice|COL4A3BP_ENST00000405807.4_Splice_Site_p.V397_splice	p.V525_splice	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	13	1866	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	397			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	SNP	ENST00000405807.4	37	c.1572_splice	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837967	0.71373	.	.	ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415	D;D;D	0.83163	-1.69;-1.69;-1.69	5.14	4.28	0.50868	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	N	0.14661	0.345	0.54753	D	0.999986	B;P;B	0.35944	0.132;0.529;0.208	B;B;B	0.28385	0.024;0.089;0.039	T	0.63812	-0.6552	10	0.15066	T	0.55	-3.1345	13.9066	0.63839	0.0:0.926:0.0:0.074	.	397;525;371	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	2;397;525;371	ENSP00000383996:V397L;ENSP00000369862:V525L;ENSP00000261415:V371L	ENSP00000261415:V371L	V	-	1	0	COL4A3BP	74721268	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.671000	0.83941	1.310000	0.45006	0.563000	0.77884	GTT		0.408	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	Missense_Mutation	11	16	0	0	0	1	0	11	16				
EHBP1L1	254102	broad.mit.edu	37	11	65343824	65343824	+	Silent	SNP	G	G	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr11:65343824G>A	ENST00000309295.4	+	1	316	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	17						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCGGCCAAGTTCCAGTTCG	0.692																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(49-51)aaG>aaA		EH domain binding protein 1-like 1							28.0	34.0	32.0					11																	65343824		1932	4125	6057	SO:0001819	synonymous_variant	254102							g.chr11:65343824G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.51G>A	11.37:g.65343824G>A							p.K17K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			1	316	+			17					Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.51G>A	CCDS44649.1																																																																																				0.692	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		3	3	0	0	0	1	0	3	3				
MUT	4594	broad.mit.edu	37	6	49425724	49425724	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:49425724C>A	ENST00000274813.3	-	3	560	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	145			G -> S (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATCATAGCCACGATGTGTC	0.403																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CM060381	MUT	M		c.(433-435)Ggc>Tgc		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						68.0	69.0	68.0					6																	49425724		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425724C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.433G>T	6.37:g.49425724C>A	ENSP00000274813:p.Gly145Cys						p.G145C	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			3	560	-	Lung NSC(77;0.0376)		145		G -> S (in MMAM; mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.433G>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630421	0.87660	.	.	ENSG00000146085	ENST00000274813	D	0.99494	-6.01	5.55	5.55	0.83447	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	10	0.87932	D	0	-13.2808	18.8429	0.92192	0.0:1.0:0.0:0.0	.	145	P22033	MUTA_HUMAN	C	145	ENSP00000274813:G145C	ENSP00000274813:G145C	G	-	1	0	MUT	49533683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.398000	0.79919	2.769000	0.95229	0.491000	0.48974	GGC		0.403	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			21	47	1	0	1.64293e-13	1	2.07152e-13	21	47				
ARHGAP9	64333	broad.mit.edu	37	12	57866445	57866445	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:57866445C>T	ENST00000356411.2	-	18	2246	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R684H|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R774H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R500H|ARHGAP9_ENST00000424809.2_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	703	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGGTGTCATGCGATTCTTATC	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2320-2322)cGc>cAc		Rho GTPase activating protein 9							99.0	79.0	86.0					12																	57866445		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57866445C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2108G>A	12.37:g.57866445C>T	ENSP00000348782:p.Arg703His					ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R684H|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R500H|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R703H	p.R774H			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		21	2513	-			703					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2321G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.758617|4.758617	0.89843|0.89843	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000393797;ENST00000340423;ENST00000430041	.|T;T;T;T	.|0.20200	.|2.09;2.09;2.09;2.09	4.96|4.96	4.06|4.06	0.47325|0.47325	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.060640	.|0.64402	.|D	.|0.000003	T|T	0.41834|0.41834	0.1176|0.1176	M|M	0.62209|0.62209	1.925|1.925	0.53005|0.53005	D|D	0.999962|0.999962	.|D;D;D	.|0.89917	.|1.0;0.999;0.997	.|D;P;D	.|0.76071	.|0.95;0.87;0.987	T|T	0.32798|0.32798	-0.9893|-0.9893	5|10	.|0.72032	.|D	.|0.01	.|.	12.2591|12.2591	0.54640|0.54640	0.1705:0.8295:0.0:0.0|0.1705:0.8295:0.0:0.0	.|.	.|703;684;500	.|Q9BRR9;Q9BRR9-2;B4DVI3	.|RHG09_HUMAN;.;.	T|H	109|684;703;774;726;500	.|ENSP00000377380:R684H;ENSP00000348782:R703H;ENSP00000377386:R774H;ENSP00000397950:R500H	.|ENSP00000344852:R726H	A|R	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56152712|56152712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.099000|3.099000	0.50267|0.50267	1.223000|1.223000	0.43536|0.43536	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		15	33	0	0	0	1	0	15	33				
CEP120	153241	broad.mit.edu	37	5	122717825	122717825	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr5:122717825C>G	ENST00000306467.5	-	14	2387	c.2083G>C	c.(2083-2085)Gaa>Caa	p.E695Q	CEP120_ENST00000306481.6_Missense_Mutation_p.E669Q|CEP120_ENST00000328236.5_Missense_Mutation_p.E695Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	695					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ACTAGTGATTCTCTTTCTCGG	0.363																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(2083-2085)Gaa>Caa		centrosomal protein 120kDa							134.0	131.0	132.0					5																	122717825		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122717825C>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2083G>C	5.37:g.122717825C>G	ENSP00000303058:p.Glu695Gln					CEP120_ENST00000306481.6_Missense_Mutation_p.E669Q|CEP120_ENST00000328236.5_Missense_Mutation_p.E695Q	p.E695Q			Q8N960	CE120_HUMAN			14	2387	-			695					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2083G>C	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954521	0.92726	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69672	0.3137	M	0.79693	2.465	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.71258	-0.4646	10	0.44086	T	0.13	-22.2727	18.4683	0.90763	0.0:1.0:0.0:0.0	.	695	Q8N960	CE120_HUMAN	Q	695;695;669;669	ENSP00000303058:E695Q;ENSP00000327504:E695Q;ENSP00000307419:E669Q;ENSP00000421620:E669Q	ENSP00000303058:E695Q	E	-	1	0	CEP120	122745724	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.124000	0.77185	2.535000	0.85469	0.585000	0.79938	GAA		0.363	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		18	79	0	0	0	1	0	18	79				
CRIM1	51232	broad.mit.edu	37	2	36691745	36691745	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:36691745C>G	ENST00000280527.2	+	5	1305	c.938C>G	c.(937-939)tCt>tGt	p.S313C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	313					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCATAGTCTCTCGTGGCGAT	0.498																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(937-939)tCt>tGt		cysteine rich transmembrane BMP regulator 1 (chordin-like)							297.0	271.0	279.0					2																	36691745		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36691745C>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.938C>G	2.37:g.36691745C>G	ENSP00000280527:p.Ser313Cys						p.S313C	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			5	1305	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	313					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.938C>G	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800202	0.90538	.	.	ENSG00000150938	ENST00000280527;ENST00000426856	T	0.04809	3.55	5.94	5.94	0.96194	.	0.059663	0.64402	D	0.000002	T	0.16085	0.0387	L	0.43152	1.355	0.58432	D	0.999999	D	0.76494	0.999	D	0.68192	0.956	T	0.00258	-1.1871	10	0.39692	T	0.17	-17.6658	19.354	0.94404	0.0:1.0:0.0:0.0	.	313	Q9NZV1	CRIM1_HUMAN	C	313;205	ENSP00000280527:S313C	ENSP00000280527:S313C	S	+	2	0	CRIM1	36545249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.013000	0.70776	2.820000	0.97059	0.650000	0.86243	TCT		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		14	90	0	0	0	1	0	14	90				
SLC5A8	160728	broad.mit.edu	37	12	101587521	101587521	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr12:101587521G>C	ENST00000536262.2	-	5	1132	c.574C>G	c.(574-576)Caa>Gaa	p.Q192E		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCCCAACTTGAAAAACATCT	0.398																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(574-576)Caa>Gaa		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							175.0	161.0	165.0					12																	101587521		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101587521G>C	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.574C>G	12.37:g.101587521G>C	ENSP00000445340:p.Gln192Glu						p.Q192E	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			5	1132	-			192						Missense_Mutation	SNP	ENST00000536262.2	37	c.574C>G	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697756	0.88830	.	.	ENSG00000256870	ENST00000536262	D	0.90900	-2.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98977	1.0803	10	0.87932	D	0	.	18.9401	0.92601	0.0:0.0:1.0:0.0	.	192	Q8N695	SC5A8_HUMAN	E	192	ENSP00000445340:Q192E	ENSP00000445340:Q192E	Q	-	1	0	SLC5A8	100111652	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.471000	0.97696	2.451000	0.82905	0.655000	0.94253	CAA		0.398	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		4	88	0	0	0	1	0	4	88				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					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.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	25	0	0	0	1	0	3	25				
FANCM	57697	broad.mit.edu	37	14	45645392	45645392	+	Silent	SNP	C	C	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr14:45645392C>T	ENST00000267430.5	+	14	3520	c.3435C>T	c.(3433-3435)gaC>gaT	p.D1145D	FANCM_ENST00000542564.2_Silent_p.D1119D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1145					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGAGTTCGACGATGTGAGTC	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(3433-3435)gaC>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							102.0	109.0	106.0					14																	45645392		2203	4300	6503	SO:0001819	synonymous_variant	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45645392C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3435C>T	14.37:g.45645392C>T						FANCM_ENST00000542564.2_Silent_p.D1119D	p.D1145D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	3520	+			1145					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.3435C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.778416	0.00634	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.16	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8972	0.24262	0.0:0.4857:0.1554:0.359	.	.	.	.	X	78	.	.	R	+	1	2	FANCM	44715142	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.108000	0.10857	-0.200000	0.10300	-0.312000	0.09012	CGA		0.388	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		30	61	0	0	0	1	0	30	61				
LPIN1	23175	broad.mit.edu	37	2	11955224	11955224	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr2:11955224A>T	ENST00000256720.2	+	17	2245	c.2152A>T	c.(2152-2154)Aaa>Taa	p.K718*	LPIN1_ENST00000396099.1_Nonsense_Mutation_p.K760*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.K803*|LPIN1_ENST00000396097.1_Nonsense_Mutation_p.K448*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.K724*|LPIN1_ENST00000404113.2_Nonsense_Mutation_p.K219*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	718	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GAATGGATATAAATTTCTCTA	0.502																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2152-2154)Aaa>Taa		lipin 1							52.0	51.0	52.0					2																	11955224		2203	4300	6503	SO:0001587	stop_gained	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955224A>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2152A>T	2.37:g.11955224A>T	ENSP00000256720:p.Lys718*					LPIN1_ENST00000404113.2_Nonsense_Mutation_p.K219*|LPIN1_ENST00000396097.1_Nonsense_Mutation_p.K448*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.K803*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.K724*|LPIN1_ENST00000396099.1_Nonsense_Mutation_p.K760*	p.K718*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2245	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		718			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Nonsense_Mutation	SNP	ENST00000256720.2	37	c.2152A>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	41	8.571305	0.98868	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8249	14.1851	0.65601	1.0:0.0:0.0:0.0	.	.	.	.	X	803;760;724;718;448;219	.	ENSP00000256720:K718X	K	+	1	0	LPIN1	11872675	1.000000	0.71417	0.888000	0.34837	0.488000	0.33401	8.780000	0.91799	1.752000	0.51891	0.533000	0.62120	AAA		0.502	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		3	33	0	0	0	1	0	3	33				
PKHD1L1	93035	broad.mit.edu	37	8	110420367	110420367	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr8:110420367G>T	ENST00000378402.5	+	18	2007	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	635					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCCAACTTGGAGACATTCAC	0.413										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1903-1905)Gag>Tag		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							121.0	120.0	120.0					8																	110420367		1923	4134	6057	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110420367G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1903G>T	8.37:g.110420367G>T	ENSP00000367655:p.Glu635*	HNSCC(38;0.096)					p.E635*	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		18	2007	+			635					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.1903G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	40	7.967983	0.98585	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.85	5.85	0.93711	.	0.476561	0.20888	N	0.083869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	17.648	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	X	635	.	ENSP00000367655:E635X	E	+	1	0	PKHD1L1	110489543	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.432000	0.59922	2.767000	0.95098	0.563000	0.77884	GAG		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	49	1	0	0.0215528	1	0.022125	6	49				
CDH8	1006	broad.mit.edu	37	16	61689558	61689558	+	Silent	SNP	T	T	C			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr16:61689558T>C	ENST00000577390.1	-	11	2676	c.1722A>G	c.(1720-1722)ttA>ttG	p.L574L	CDH8_ENST00000299345.6_Silent_p.L574L|CDH8_ENST00000577730.1_Silent_p.L574L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	574	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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTATGATTGGTAAAAGATAGA	0.408																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1720-1722)ttA>ttG		cadherin 8, type 2							140.0	128.0	132.0					16																	61689558		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61689558T>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1722A>G	16.37:g.61689558T>C						CDH8_ENST00000577730.1_Silent_p.L574L|CDH8_ENST00000299345.6_Silent_p.L574L	p.L574L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2676	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	574			Cadherin 5.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1722A>G	CCDS10802.1																																																																																				0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		8	39	0	0	0	1	0	8	39				
SETD2	29072	broad.mit.edu	37	3	47084145	47084146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr3:47084145_47084146insG	ENST00000409792.3	-	17	7185_7186	c.7143_7144insC	c.(7141-7146)ccctctfs	p.S2382fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2382					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.P2380fs(2)|p.P1877fs(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGGGAGGAGAGGGGGGCGGCA	0.426			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		4	Complex(4)	p.P2380fs(2)|p.P1877fs(2)	central_nervous_system(4)	breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(7141-7146)ccctccfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47084145_47084146insG	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.7144dupC	3.37:g.47084151_47084151dupG	ENSP00000386759:p.Ser2382fs						p.S2382fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	17	7185_7186	-		Acute lymphoblastic leukemia(5;0.0169)	2382					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	c.7143_7144insC	CCDS2749.2																																																																																				0.426	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		16	61						16	61	---	---	---	---
RP11-297P16.3	0	broad.mit.edu	37	4	104493231	104493231	+	RNA	DEL	G	G	-			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr4:104493231delG	ENST00000502936.1	+	0	189				RP11-297P16.3_ENST00000512401.1_RNA																							GAAGACTCCTGGGTACTCTTC	0.448																																						ENST00000502936.1																			0																																																			0							g.chr4:104493231delG																													4.37:g.104493231delG						RP11-297P16.3_ENST00000512401.1_RNA								0	189	+									RNA	DEL	ENST00000502936.1	37																																																																																						0.448	RP11-297P16.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000363303.2			2	4						2	4	---	---	---	---
IL9	3578	broad.mit.edu	37	5	135231281	135231281	+	Splice_Site	DEL	T	T	-	rs370719672		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr5:135231281delT	ENST00000274520.1	-	2	125		c.e2-2		GS1-39E22.2_ENST00000522973.1_RNA	NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9						immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGATCTTCCTAAAGTAGATA	0.403																																						ENST00000274520.1																			0				large_intestine(3)|lung(2)|pancreas(1)	6						c.e2-2		interleukin 9							71.0	78.0	75.0					5																	135231281		2203	4300	6503	SO:0001630	splice_region_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135231281delT	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.115-2A>-	5.37:g.135231281delT								NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	125	-									Splice_Site	DEL	ENST00000274520.1	37		CCDS4189.1																																																																																				0.403	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590	Intron	12	119						12	119	---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88240657	88240657	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr6:88240657delA	ENST00000369536.5	-	9	661	c.616delT	c.(616-618)tatfs	p.Y206fs		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	206					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACTTGTACATAAACCTAAAAG	0.363																																						ENST00000369536.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(616-618)atfs		arginyl-tRNA synthetase 2, mitochondrial							111.0	109.0	110.0					6																	88240657		2203	4300	6503	SO:0001589	frameshift_variant	57038				arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr6:88240657delA	AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.616delT	6.37:g.88240657delA	ENSP00000358549:p.Tyr206fs						p.Y206fs	NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0456)	9	661	-		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	206					B2RDT7|Q96FU5|Q9H8K8	Frame_Shift_Del	DEL	ENST00000369536.5	37	c.616delT	CCDS5011.1																																																																																				0.363	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320		15	27						15	27	---	---	---	---
MPLKIP	136647	broad.mit.edu	37	7	40174134	40174134	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr7:40174134delA	ENST00000306984.6	-	1	124	c.33delT	c.(31-33)cctfs	p.P12fs	C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000540834.1_5'Flank|C7orf10_ENST00000401647.2_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	12					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											CAGGGTAAGGAGGAGTTGGGG	0.667																																						ENST00000306984.5																			0											c.(31-33)ccfs		M-phase specific PLK1 interacting protein							6.0	7.0	7.0					7																	40174134		1617	3589	5206	SO:0001589	frameshift_variant	136647				cell division|mitosis	microtubule organizing center|nucleus		g.chr7:40174134delA	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"""chromosome 7 open reading frame 11"""	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.33delT	7.37:g.40174134delA	ENSP00000304553:p.Pro12fs						p.P12fs	NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN			1	124	-			12						Frame_Shift_Del	DEL	ENST00000306984.6	37	c.33delT	CCDS5463.1																																																																																				0.667	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701		2	4						2	4	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		3	5						3	5	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139115851	139115855	+	Splice_Site	DEL	ACTGA	ACTGA	-			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr9:139115851_139115855delACTGA	ENST00000358701.5	-	4	619_622	c.582_585delTCAGT	c.(580-585)attcag>at	p.IQ194fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	194					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGAGCTACTCACTGAATGGGGTCTA	0.551																																						ENST00000358701.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22						c.e4+1		quiescin Q6 sulfhydryl oxidase 2																																				SO:0001630	splice_region_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139115851_139115855delACTGA	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.584+1TCAGT>-	9.37:g.139115851_139115855delACTGA							p.194_splice	NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	4	619_622	-		Myeloproliferative disorder(178;0.0511)	194					A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Splice_Site	DEL	ENST00000358701.5	37	c.584_splice	CCDS35178.1																																																																																				0.551	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	Frame_Shift_Del	23	59						23	59	---	---	---	---
RPS5	6193	broad.mit.edu	37	19	58907569	58907571	+	IGR	DEL	AGG	AGG	-			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr19:58907569_58907571delAGG	ENST00000596046.1	+	0	1520				AC012313.1_ENST00000601382.1_In_Frame_Del_p.E45del			P46782	RS5_HUMAN	ribosomal protein S5						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)|regulation of translational fidelity (GO:0006450)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGGGAAGACCaggaggaggagga	0.724																																						ENST00000601382.1																			0											c.(112-117)cag>c																																						SO:0001628	intergenic_variant	0							g.chr19:58907569_58907571delAGG	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782			19.37:g.58907578_58907580delAGG							p.38del	NM_001195135.1	NP_001182064.1					1	113_115	+								B2R4T2|Q96BN0	In_Frame_Del	DEL	ENST00000596046.1	37	c.113_115delAGG	CCDS12978.1																																																																																				0.724	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		2	4						2	4	---	---	---	---
MX2	4600	broad.mit.edu	37	21	42771265	42771268	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-ZG-A9NI-01A-11D-A41K-08	TCGA-ZG-A9NI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22868fe7-004f-48cc-ac4e-975a7ec1b9f9	110f12ed-ca50-4832-bba5-acdccedd3746	g.chr21:42771265_42771268delGTAA	ENST00000330714.3	+	10	1598		c.e10+1		MX2_ENST00000496774.1_Splice_Site	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2						cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ACCCAAAAAGGTAAGTTCTGGGCA	0.456																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.e10+1		myxovirus (influenza virus) resistance 2 (mouse)																																				SO:0001630	splice_region_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42771265_42771268delGTAA		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1414+1GTAA>-	21.37:g.42771265_42771268delGTAA						MX2_ENST00000496774.1_Splice_Site		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			10	1598	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)						B7Z5D3|D3DSI7	Splice_Site	DEL	ENST00000330714.3	37		CCDS13672.1																																																																																				0.456	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463	Intron	17	85						17	85	---	---	---	---
