#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DBN1	1627	broad.mit.edu	37	5	176893991	176893991	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:176893991G>A	ENST00000309007.5	-	7	847	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	DBN1_ENST00000393565.1_Missense_Mutation_p.R210W|DBN1_ENST00000292385.5_Missense_Mutation_p.R212W	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	210					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCCATCCGCTCCTGCTCG	0.667																																						uc003mgx.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(634-636)Cgg>Tgg		Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.							59.0	60.0	60.0					5																	176893991		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176893991G>A		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.628C>T	5.37:g.176893991G>A	ENSP00000308532:p.Arg210Trp		Somatic				DBN1_uc003mgy.2_Missense_Mutation_p.R210W|DBN1_uc010jkn.1_Missense_Mutation_p.R160W|DBN1_uc003mgz.1_Missense_Mutation_p.R147W	p.R212W	NM_080881	NP_543157	WXS	Illumina GAIIx	Phase_I	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	916	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	210					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.634C>T	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351460	0.95830	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391	T;T;T	0.44083	0.93;0.93;1.54	4.99	4.99	0.66335	.	0.128515	0.52532	D	0.000062	T	0.67059	0.2853	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.995;0.998;0.999	T	0.71477	-0.4581	10	0.87932	D	0	-23.6691	18.0729	0.89417	0.0:0.0:1.0:0.0	.	160;210;210;212	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	W	210;212;210;209	ENSP00000308532:R210W;ENSP00000292385:R212W;ENSP00000377195:R210W	ENSP00000292385:R212W	R	-	1	2	DBN1	176826597	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.416000	0.59815	2.586000	0.87340	0.655000	0.94253	CGG		0.667	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		3	70	0	0	0	1	0	3	70				
ARHGDIG	398	broad.mit.edu	37	16	332688	332688	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:332688G>A	ENST00000219409.3	+	6	627	c.552G>A	c.(550-552)gaG>gaA	p.E184E	PDIA2_ENST00000219406.6_5'Flank|PDIA2_ENST00000404312.1_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	184					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCCGGTGGAGGAAGCGCCGA	0.642																																						uc002cgm.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)	3						c.(550-552)gaG>gaA		Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.							34.0	32.0	33.0					16																	332688		2200	4298	6498	SO:0001819	synonymous_variant	398				Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr16:332688G>A	U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"""RhoGDI gamma"""	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.552G>A	16.37:g.332688G>A			Somatic				LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'UTR|PDIA2_uc010bqt.1_5'UTR	p.E184E	NM_001176	NP_001167	WXS	Illumina GAIIx	Phase_I	Q99819	GDIR3_HUMAN			5	627	+		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	184					Q4TT69|Q96S29	Silent	SNP	ENST00000219409.3	37	c.552G>A	CCDS10404.1																																																																																				0.642	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139321.1			3	36	0	0	0	1	0	3	36				
GRB7	2886	broad.mit.edu	37	17	37901566	37901566	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:37901566C>T	ENST00000309156.4	+	10	1339	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	GRB7_ENST00000309185.3_Missense_Mutation_p.S361F|GRB7_ENST00000394209.2_Missense_Mutation_p.S361F|GRB7_ENST00000445327.2_Missense_Mutation_p.S384F|GRB7_ENST00000394204.1_Missense_Mutation_p.S361F|GRB7_ENST00000394211.3_Missense_Mutation_p.S361F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	361					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTTGGGCTCCCCACCCTTG	0.592																																						uc021twu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1150-1152)tCc>tTc		Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 4, mRNA.							65.0	58.0	60.0					17																	37901566		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding	g.chr17:37901566C>T	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1082C>T	17.37:g.37901566C>T	ENSP00000310771:p.Ser361Phe		Somatic				GRB7_uc002hsr.3_Missense_Mutation_p.S361F|GRB7_uc002hss.3_Missense_Mutation_p.S361F|GRB7_uc010cwc.3_Missense_Mutation_p.S361F|GRB7_uc002hst.3_Missense_Mutation_p.S361F	p.S384F	NM_001242442	NP_001229371	WXS	Illumina GAIIx	Phase_I	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		9	1286	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		361					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1151C>T	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	9.750	1.167274	0.21621	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.58210	0.35;1.5;1.5;1.5;1.48;0.35	5.84	5.84	0.93424	.	0.401285	0.30109	N	0.010391	T	0.53981	0.1830	L	0.39147	1.195	0.20703	N	0.999866	D;B	0.54964	0.969;0.002	P;B	0.47827	0.558;0.01	T	0.54330	-0.8310	10	0.66056	D	0.02	-37.4214	17.916	0.88950	0.0:1.0:0.0:0.0	.	361;361	Q14451-2;Q14451	.;GRB7_HUMAN	F	361;361;361;361;384;361	ENSP00000311752:S361F;ENSP00000310771:S361F;ENSP00000377761:S361F;ENSP00000377759:S361F;ENSP00000403459:S384F;ENSP00000377754:S361F	ENSP00000310771:S361F	S	+	2	0	GRB7	35155092	0.316000	0.24580	0.887000	0.34795	0.103000	0.19146	2.583000	0.46094	2.768000	0.95171	0.561000	0.74099	TCC		0.592	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310		21	90	0	0	0	1	0	21	90				
CRELD2	79174	broad.mit.edu	37	22	50315381	50315381	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:50315381C>T	ENST00000328268.4	+	5	638	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CRELD2_ENST00000403427.3_Silent_p.L188L|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000404488.3_Silent_p.L188L|CRELD2_ENST00000407217.3_Silent_p.L188L	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	188						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCTCGCTCCGGAACGAGA	0.677																																						uc010hal.2																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(562-564)ctC>ctT		Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.							82.0	83.0	82.0					22																	50315381		2203	4300	6503	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315381C>T	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.564C>T	22.37:g.50315381C>T			Somatic				CRELD2_uc003biz.3_Silent_p.L188L|CRELD2_uc010haj.3_Silent_p.L188L|CRELD2_uc003bja.2_Silent_p.L188L|CRELD2_uc010hak.2_Silent_p.L188L|CRELD2_uc010ham.2_Silent_p.L188L	p.L188L	NM_001135101	NP_001128573	WXS	Illumina GAIIx	Phase_I	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	4	699	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	188					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.564C>T	CCDS14082.1																																																																																				0.677	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		6	177	0	0	0	1	0	6	177				
MAGEB10	139422	broad.mit.edu	37	X	27839566	27839566	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:27839566A>G	ENST00000356790.2	+	3	388	c.143A>G	c.(142-144)gAt>gGt	p.D48G		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	48										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGTTTGAAGGATGTTTTCCAG	0.522																																						uc004dbw.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(142-144)gAt>gGt		Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.							58.0	50.0	53.0					X																	27839566		2202	4300	6502	SO:0001583	missense	139422							g.chrX:27839566A>G		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.143A>G	X.37:g.27839566A>G	ENSP00000368304:p.Asp48Gly		Somatic				MAGEB10_uc022bud.1_Missense_Mutation_p.D48G	p.D48G	NM_182506	NP_872312	WXS	Illumina GAIIx	Phase_I	Q96LZ2	MAGBA_HUMAN			2	388	+			48					Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	c.143A>G	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	A	2.692	-0.272835	0.05716	.	.	ENSG00000177689	ENST00000356790	T	0.04083	3.71	2.37	-4.74	0.03249	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.03053	0.0090	L	0.39898	1.24	0.09310	N	1	B	0.16802	0.019	B	0.22880	0.042	T	0.49194	-0.8965	9	0.11485	T	0.65	.	1.2836	0.02046	0.2117:0.1623:0.4629:0.1631	.	48	Q96LZ2	MAGBA_HUMAN	G	48	ENSP00000368304:D48G	ENSP00000368304:D48G	D	+	2	0	MAGEB10	27749487	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.238000	0.00545	-1.662000	0.01482	0.345000	0.21793	GAT		0.522	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		13	30	0	0	0	1	0	13	30				
SETDB1	9869	broad.mit.edu	37	1	150936158	150936158	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:150936158G>A	ENST00000271640.5	+	20	3800	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.E1204K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1204	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATGATGGCGAGGAGTCTTG	0.517																																						uc001evu.2																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3610-3612)Gag>Aag		Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.							146.0	134.0	138.0					1																	150936158		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936158G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3610G>A	1.37:g.150936158G>A	ENSP00000271640:p.Glu1204Lys		Somatic				SETDB1_uc001evv.2_Missense_Mutation_p.E1204K|SETDB1_uc009wmg.2_Missense_Mutation_p.E1204K	p.E1204K	NM_001145415	NP_001138887	WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3800	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1204			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3610G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	36	5.836373	0.97009	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.82255	-1.59;-1.59;-1.59	5.65	5.65	0.86999	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	L	0.35542	1.07	0.80722	D	1	D;P;D	0.89917	1.0;0.938;0.999	D;P;D	0.83275	0.996;0.719;0.995	T	0.82041	-0.0654	10	0.31617	T	0.26	.	19.7163	0.96122	0.0:0.0:1.0:0.0	.	1204;1204;1204	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	K	1204	ENSP00000271640:E1204K;ENSP00000357965:E1204K;ENSP00000432348:E1204K	ENSP00000271640:E1204K	E	+	1	0	SETDB1	149202782	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	9.806000	0.99153	2.667000	0.90743	0.455000	0.32223	GAG		0.517	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			129	148	0	0	0	1	0	129	148				
PSG8	440533	broad.mit.edu	37	19	43269731	43269731	+	Start_Codon_SNP	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:43269731C>T	ENST00000306511.4	-	1	100	c.3G>A	c.(1-3)atG>atA	p.M1I	PSG8_ENST00000404209.4_Start_Codon_SNP_p.M1I|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Start_Codon_SNP_p.M1I	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	1						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGAGGAGCCCCATGGTCTCTG	0.597																																						uc002ouo.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1-3)atG>atA		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.							131.0	118.0	122.0					19																	43269731		1511	2709	4220	SO:0001582	initiator_codon_variant	440533					extracellular region		g.chr19:43269731C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.3G>A	19.37:g.43269731C>T	ENSP00000305005:p.Met1Ile		Somatic				PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.M1I|PSG8_uc010ein.3_Missense_Mutation_p.M1I|PSG3_uc002oun.3_Intron	p.M1I	NM_182707	NP_874366	WXS	Illumina GAIIx	Phase_I	Q9UQ74	PSG8_HUMAN			0	101	-		Prostate(69;0.00899)	1					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.3G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	12.05	1.820785	0.32145	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T;T	0.27256	2.26;1.68;3.39;2.27	1.35	1.35	0.21983	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	D;D;D	0.67145	0.986;0.958;0.996	D;D;D	0.70935	0.971;0.943;0.913	T	0.41052	-0.9530	8	0.87932	D	0	.	6.1568	0.20342	0.0:1.0:0.0:0.0	.	1;1;1	Q9UQ74-2;Q9UQ74;A5PKV3	.;PSG8_HUMAN;.	I	1	ENSP00000385869:M1I;ENSP00000385081:M1I;ENSP00000386090:M1I;ENSP00000305005:M1I	ENSP00000305005:M1I	M	-	3	0	PSG8	47961571	0.692000	0.27719	0.020000	0.16555	0.022000	0.10575	1.782000	0.38654	1.063000	0.40649	0.184000	0.17185	ATG		0.597	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		Missense_Mutation	34	52	0	0	0	1	0	34	52				
CPT1C	126129	broad.mit.edu	37	19	50215184	50215184	+	Missense_Mutation	SNP	G	G	A	rs548745420		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:50215184G>A	ENST00000392518.4	+	17	2357	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	CPT1C_ENST00000323446.5_Missense_Mutation_p.R662Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R662Q|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000405931.2_Missense_Mutation_p.R651Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	662					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCGTGTCCCGATTCCTCCAC	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19746	0.0		0.0	False		,,,				2504	0.0					uc010eng.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1984-1986)cGa>cAa		Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.							108.0	85.0	93.0					19																	50215184		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50215184G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1985G>A	19.37:g.50215184G>A	ENSP00000376303:p.Arg662Gln		Somatic				CPT1C_uc002ppl.4_3'UTR|CPT1C_uc002ppi.3_Missense_Mutation_p.R579Q|CPT1C_uc002ppk.3_Missense_Mutation_p.R651Q|CPT1C_uc010enh.3_Missense_Mutation_p.R662Q|CPT1C_uc002ppj.3_Missense_Mutation_p.R662Q|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Intron	p.R662Q	NM_001199753	NP_001186682	WXS	Illumina GAIIx	Phase_I	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	16	2301	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	662					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1985G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366734	0.41902	.	.	ENSG00000169169	ENST00000392518;ENST00000405931;ENST00000323446	D;D;D	0.88818	-2.43;-2.43;-2.43	4.46	-0.156	0.13391	.	0.184288	0.26207	N	0.025720	T	0.77039	0.4072	N	0.24115	0.695	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.61598	-0.7030	10	0.23891	T	0.37	-8.7398	8.1707	0.31254	0.7473:0.0:0.2527:0.0	.	651;662	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	Q	662;651;662	ENSP00000376303:R662Q;ENSP00000384465:R651Q;ENSP00000319343:R662Q	ENSP00000319343:R662Q	R	+	2	0	CPT1C	54906996	0.796000	0.28864	0.135000	0.22099	0.798000	0.45092	1.626000	0.37039	0.157000	0.19338	-0.125000	0.14975	CGA		0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		24	104	0	0	0	1	0	24	104				
FANCD2	2177	broad.mit.edu	37	3	10106529	10106529	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:10106529G>A	ENST00000419585.1	+	23	2299	c.2138G>A	c.(2137-2139)gGt>gAt	p.G713D	FANCD2_ENST00000383807.1_Missense_Mutation_p.G713D|FANCD2_ENST00000383806.1_Missense_Mutation_p.G713D|FANCD2_ENST00000287647.3_Missense_Mutation_p.G713D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	713					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGATGGGGGTCCGGTGACC	0.463			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2137-2139)gGt>gAt	Involved in tolerance or repair of DNA crosslinks	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.							98.0	108.0	105.0					3																	10106529		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10106529G>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2138G>A	3.37:g.10106529G>A	ENSP00000398754:p.Gly713Asp		Somatic				FANCD2_uc003bux.1_Missense_Mutation_p.G713D|FANCD2_uc003buy.1_Missense_Mutation_p.G713D|FANCD2_uc010hcw.1_Non-coding_Transcript	p.G713D	NM_033084	NP_149075	WXS	Illumina GAIIx	Phase_I	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	22	2216	+			713					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2138G>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	3.692	-0.063396	0.07273	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.65	3.78	0.43462	.	0.608262	0.19262	N	0.118659	T	0.27419	0.0673	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.004;0.006	T	0.13361	-1.0512	10	0.12103	T	0.63	.	14.1836	0.65590	0.0:0.311:0.689:0.0	.	713;713	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	713	ENSP00000287647:G713D;ENSP00000373318:G713D;ENSP00000373317:G713D;ENSP00000398754:G713D	ENSP00000287647:G713D	G	+	2	0	FANCD2	10081529	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.182000	0.16900	0.794000	0.33899	0.585000	0.79938	GGT		0.463	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			4	243	0	0	0	1	0	4	243				
MYH7B	57644	broad.mit.edu	37	20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T	rs369138767		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:33582119C>T	ENST00000262873.7	+	25	2833	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	872						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672																																						uc002xbi.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2740-2742)gCg>gTg		Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.		C	VAL/ALA	0,4014		0,0,2007	29.0	38.0	35.0		2741	3.3	0.0	20		35	2,8314		0,2,4156	no	missense	MYH7B	NM_020884.3	64	0,2,6163	TT,TC,CC		0.0241,0.0,0.0162	benign	914/1984	33582119	2,12328	2007	4158	6165	SO:0001583	missense	57644					membrane|myosin filament	ATP binding|actin binding|motor activity	g.chr20:33582119C>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2741C>T	20.37:g.33582119C>T	ENSP00000262873:p.Ala914Val		Somatic					p.A914V	NM_020884	NP_065935	WXS	Illumina GAIIx	Phase_I	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		26	3058	+			872					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2741C>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150006	0.57151	0.0	2.41E-4	ENSG00000078814	ENST00000262873	D	0.83163	-1.69	4.32	3.3	0.37823	.	0.425278	0.17358	N	0.177128	T	0.73521	0.3597	L	0.38175	1.15	0.22412	N	0.999123	B	0.23806	0.091	B	0.04013	0.001	T	0.67256	-0.5716	10	0.72032	D	0.01	.	10.038	0.42139	0.4003:0.5997:0.0:0.0	.	872	A7E2Y1	MYH7B_HUMAN	V	914	ENSP00000262873:A914V	ENSP00000262873:A914V	A	+	2	0	MYH7B	33045780	0.867000	0.29959	0.006000	0.13384	0.854000	0.48673	4.412000	0.59787	2.409000	0.81822	0.655000	0.94253	GCG		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		3	66	0	0	0	1	0	3	66				
SEPT6	23157	broad.mit.edu	37	X	118771054	118771054	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:118771054A>C	ENST00000343984.5	-	7	1156	c.892T>G	c.(892-894)Tat>Gat	p.Y298D	SEPT6_ENST00000394610.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000354228.4_Missense_Mutation_p.Y298D|SEPT6_ENST00000394617.2_Missense_Mutation_p.Y328D|SEPT6_ENST00000489216.1_Missense_Mutation_p.Y298D|SEPT6_ENST00000360156.7_Missense_Mutation_p.Y298D|SEPT6_ENST00000354416.3_Missense_Mutation_p.Y298D|SEPT6_ENST00000394616.4_Missense_Mutation_p.Y240D	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	298	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CAGCGGCGATACAGCTCATAG	0.612			T	MLL	AML																																	uc011mtw.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0		p.R328R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(982-984)Tat>Gat		Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.							125.0	93.0	104.0					X																	118771054		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118771054A>C	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.892T>G	X.37:g.118771054A>C	ENSP00000341524:p.Tyr298Asp		Somatic				SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.Y298D|SEPT6_uc004ert.3_Missense_Mutation_p.Y298D|SEPT6_uc004eru.3_Missense_Mutation_p.Y298D|SEPT6_uc004erv.3_Missense_Mutation_p.Y298D|SEPT6_uc004erw.3_Missense_Mutation_p.Y240D|SEPT6_uc011mtv.1_Missense_Mutation_p.Y240D	p.Y328D	NM_145800	NP_665799	WXS	Illumina GAIIx	Phase_I	Q14141	SEPT6_HUMAN			7	1055	-			298					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.982T>G	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483104	0.84747	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	T;T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.84804	0.5553	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.999;0.997	D	0.90245	0.4289	10	0.87932	D	0	.	13.4229	0.61009	1.0:0.0:0.0:0.0	.	328;240;298;298	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	D	298;298;298;298;298;298;240;328	ENSP00000353278:Y298D;ENSP00000346169:Y298D;ENSP00000418715:Y298D;ENSP00000346397:Y298D;ENSP00000378108:Y298D;ENSP00000341524:Y298D;ENSP00000378114:Y240D;ENSP00000378115:Y328D	ENSP00000341524:Y298D	Y	-	1	0	SEPT6	118655082	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.962000	0.93254	1.763000	0.52060	0.481000	0.45027	TAT		0.612	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		50	137	0	0	0	1	0	50	137				
NAV2	89797	broad.mit.edu	37	11	19955323	19955323	+	Silent	SNP	G	G	A	rs375524165		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:19955323G>A	ENST00000396087.3	+	8	1701	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	NAV2_ENST00000540292.1_Silent_p.T465T|NAV2_ENST00000349880.4_Silent_p.T511T|NAV2_ENST00000527559.2_Silent_p.T463T|NAV2_ENST00000396085.1_Silent_p.T511T|NAV2_ENST00000360655.4_Silent_p.T447T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	534					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.T534T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTGTGACGGAGAGGCTGG	0.517																																						uc010rdm.2																			1	Substitution - coding silent(1)	p.T534T(2)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1600-1602)acG>acA		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.		G	,,	1,4397	2.1+/-5.4	0,1,2198	95.0	110.0	105.0		1341,1533,1533	-10.3	0.0	11		105	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	NAV2	NM_001111018.1,NM_145117.4,NM_182964.5	,,	0,2,6490	AA,AG,GG		0.0116,0.0227,0.0154	,,	447/2366,511/2430,511/2433	19955323	2,12982	2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955323G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1602G>A	11.37:g.19955323G>A			Somatic				NAV2_uc001mpp.3_Silent_p.T447T|NAV2_uc001mpr.4_Silent_p.T511T|NAV2_uc021qew.1_Silent_p.T511T	p.T534T	NM_001244963	NP_001231892	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			7	1963	+			534					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.1602G>A	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		3	102	0	0	0	1	0	3	102				
PDCD11	22984	broad.mit.edu	37	10	105165806	105165806	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:105165806G>A	ENST00000369797.3	+	6	723	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	210	S1 motif 2. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGTTGATGGGACCAGAGCT	0.512																																						uc001kwy.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(628-630)gGg>gAg		Homo sapiens programmed cell death 11 (PDCD11), mRNA.							150.0	140.0	144.0					10																	105165806		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105165806G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.629G>A	10.37:g.105165806G>A	ENSP00000358812:p.Gly210Glu		Somatic					p.G210E	NM_014976	NP_055791	WXS	Illumina GAIIx	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	5	716	+		Colorectal(252;0.0747)|Breast(234;0.128)	210			S1 motif 2.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.629G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372943	0.82573	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.51574	0.7	5.4	4.49	0.54785	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.047340	0.85682	D	0.000000	T	0.55114	0.1900	L	0.58101	1.795	0.80722	D	1	P	0.49862	0.929	P	0.55087	0.768	T	0.55885	-0.8070	10	0.54805	T	0.06	-26.2267	9.756	0.40504	0.0778:0.1429:0.7793:0.0	.	210	Q14690	RRP5_HUMAN	E	210	ENSP00000358812:G210E	ENSP00000358812:G210E	G	+	2	0	PDCD11	105155796	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.772000	0.62324	2.537000	0.85549	0.555000	0.69702	GGG		0.512	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	176	0	0	0	1	0	3	176				
SLC22A2	6582	broad.mit.edu	37	6	160679691	160679691	+	Silent	SNP	G	G	A	rs568261775		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:160679691G>A	ENST00000366953.3	-	1	357	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SLC22A2_ENST00000366952.1_Silent_p.F12F|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	33					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AGATGGGCGCGAAGGTAGCCG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17835	0.0		0.0	False		,,,				2504	0.001					uc003qtf.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(97-99)ttC>ttT		Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.							41.0	44.0	43.0					6																	160679691		2203	4298	6501	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679691G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.99C>T	6.37:g.160679691G>A			Somatic				SLC22A2_uc003qth.2_Silent_p.F33F	p.F33F	NM_003058	NP_003049	WXS	Illumina GAIIx	Phase_I	O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	0	273	-		Breast(66;0.000776)|Ovarian(120;0.0303)	33					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.99C>T	CCDS5276.1																																																																																				0.612	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		33	71	0	0	0	1	0	33	71				
BNC2	54796	broad.mit.edu	37	9	16436640	16436640	+	Missense_Mutation	SNP	C	C	T	rs377315626		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:16436640C>T	ENST00000380672.4	-	6	1609	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	BNC2_ENST00000380666.2_Missense_Mutation_p.A518T|BNC2_ENST00000545497.1_Missense_Mutation_p.A423T|BNC2_ENST00000380667.2_Missense_Mutation_p.A451T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGGGTGGCAGCTCCTGAG	0.512																																						uc003zml.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1552-1554)Gcc>Acc		Homo sapiens basonuclin 2 (BNC2), mRNA.							71.0	77.0	75.0					9																	16436640		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436640C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1552G>A	9.37:g.16436640C>T	ENSP00000370047:p.Ala518Thr		Somatic				BNC2_uc011lmw.2_Missense_Mutation_p.A423T|BNC2_uc003zmm.3_Missense_Mutation_p.A476T|BNC2_uc003zmq.1_Missense_Mutation_p.A532T|BNC2_uc003zmr.1_Missense_Mutation_p.A555T|BNC2_uc003zmp.1_Missense_Mutation_p.A546T|BNC2_uc010mij.1_Missense_Mutation_p.A440T|BNC2_uc011lmv.2_Missense_Mutation_p.A344T|BNC2_uc003zmo.1_Missense_Mutation_p.A440T|BNC2_uc003zmj.3_Missense_Mutation_p.A283T|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.A283T|BNC2_uc003zmn.1_Missense_Mutation_p.A283T	p.A518T	NM_017637	NP_060107	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	1692	-			518						Missense_Mutation	SNP	ENST00000380672.4	37	c.1552G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228353	0.79576	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.33438	1.42;1.41;1.44;1.44;1.41	5.88	5.88	0.94601	.	0.048681	0.85682	D	0.000000	T	0.45175	0.1329	L	0.58101	1.795	0.80722	D	1	D;P;P;P;P;P;P;P;P	0.56035	0.974;0.849;0.906;0.734;0.906;0.849;0.849;0.941;0.849	P;B;P;P;P;B;B;P;B	0.51701	0.647;0.378;0.677;0.466;0.582;0.378;0.378;0.616;0.378	T	0.09443	-1.0674	10	0.33940	T	0.23	-18.0475	20.2422	0.98381	0.0:1.0:0.0:0.0	.	423;451;518;344;518;475;518;423;283	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	T	518;475;451;423;344;518;518	ENSP00000370047:A518T;ENSP00000408370:A475T;ENSP00000370042:A451T;ENSP00000444640:A423T;ENSP00000370041:A518T	ENSP00000370041:A518T	A	-	1	0	BNC2	16426640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.567000	0.82357	2.782000	0.95742	0.655000	0.94253	GCC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		49	102	0	0	0	1	0	49	102				
FOXR2	139628	broad.mit.edu	37	X	55650393	55650393	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:55650393C>T	ENST00000339140.3	+	1	561	c.249C>T	c.(247-249)gaC>gaT	p.D83D		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	83					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTGGGTGGACCCCAATATCC	0.552																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(247-249)gaC>gaT		Homo sapiens forkhead box R2 (FOXR2), mRNA.							68.0	61.0	64.0					X																	55650393		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650393C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.249C>T	X.37:g.55650393C>T			Somatic					p.D83D	NM_198451	NP_940853	WXS	Illumina GAIIx	Phase_I	Q6PJQ5	FOXR2_HUMAN			0	561	+			83						Silent	SNP	ENST00000339140.3	37	c.249C>T	CCDS35308.1																																																																																				0.552	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		32	50	0	0	0	1	0	32	50				
ELOVL1	64834	broad.mit.edu	37	1	43830608	43830608	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:43830608C>G	ENST00000372458.3	-	4	426	c.309G>C	c.(307-309)gaG>gaC	p.E103D	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Intron	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	103					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTAAGTGCCTCAGGGCTGT	0.557																																						uc001cjb.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(307-309)gaG>gaC		Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.							50.0	47.0	48.0					1																	43830608		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830608C>G	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.309G>C	1.37:g.43830608C>G	ENSP00000361536:p.Glu103Asp		Somatic				ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Intron	p.E103D	NM_022821	NP_073732	WXS	Illumina GAIIx	Phase_I	Q9BW60	ELOV1_HUMAN			3	437	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	103					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.309G>C	CCDS485.1	.	.	.	.	.	.	.	.	.	.	C	6.398	0.441551	0.12164	.	.	ENSG00000066322	ENST00000372458	T	0.22336	1.96	5.77	2.89	0.33648	.	0.208186	0.51477	D	0.000086	T	0.10465	0.0256	N	0.11313	0.125	0.80722	D	1	B	0.29805	0.257	B	0.36030	0.216	T	0.21621	-1.0240	10	0.13470	T	0.59	.	6.4151	0.21712	0.128:0.665:0.0:0.207	.	103	Q9BW60	ELOV1_HUMAN	D	103	ENSP00000361536:E103D	ENSP00000361536:E103D	E	-	3	2	ELOVL1	43603195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.990000	0.29642	0.357000	0.24183	-0.793000	0.03317	GAG		0.557	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		15	30	0	0	0	1	0	15	30				
POLR2B	5431	broad.mit.edu	37	4	57889901	57889901	+	Missense_Mutation	SNP	T	T	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:57889901T>G	ENST00000381227.1	+	21	3253	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	POLR2B_ENST00000314595.5_Missense_Mutation_p.I947S|POLR2B_ENST00000441246.2_Missense_Mutation_p.I940S|POLR2B_ENST00000431623.2_Missense_Mutation_p.I872S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	947					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGGTATTCAGTATAGA	0.333																																						uc003hcl.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(2839-2841)aTt>aGt		Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.							89.0	88.0	88.0					4																	57889901		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889901T>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2840T>G	4.37:g.57889901T>G	ENSP00000370625:p.Ile947Ser		Somatic				POLR2B_uc011cae.1_Missense_Mutation_p.I940S|POLR2B_uc011caf.1_Missense_Mutation_p.I872S|POLR2B_uc003hcm.1_Missense_Mutation_p.I440S	p.I947S	NM_000938	NP_000929	WXS	Illumina GAIIx	Phase_I	P30876	RPB2_HUMAN			19	2883	+	Glioma(25;0.08)|all_neural(26;0.181)		947					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2840T>G	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068974	0.76301	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.86	5.86	0.93980	DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.85682	D	0.000000	D	0.88036	0.6329	M	0.90019	3.08	0.80722	D	1	P;P	0.42620	0.589;0.785	P;P	0.56474	0.799;0.799	D	0.89751	0.3940	10	0.87932	D	0	.	11.3568	0.49620	0.1353:0.0:0.0:0.8647	.	872;947	C9J4M6;P30876	.;RPB2_HUMAN	S	947;872;940;947	ENSP00000370625:I947S;ENSP00000391096:I872S;ENSP00000391452:I940S;ENSP00000312735:I947S	ENSP00000312735:I947S	I	+	2	0	POLR2B	57584658	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.029000	0.88807	2.237000	0.73441	0.460000	0.39030	ATT		0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		60	98	0	0	0	1	0	60	98				
LGR5	8549	broad.mit.edu	37	12	71978313	71978313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:71978313G>A	ENST00000266674.5	+	18	2834	c.2523G>A	c.(2521-2523)tgG>tgA	p.W841*	LGR5_ENST00000540815.2_Nonsense_Mutation_p.W817*|LGR5_ENST00000536515.1_Nonsense_Mutation_p.W769*|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	841					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTACGTCTGGACAAGATCAA	0.448																																						uc001swl.3																		NUP107/LGR5(2)	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(2521-2523)tgG>tgA		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.							132.0	126.0	128.0					12																	71978313		2203	4300	6503	SO:0001587	stop_gained	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71978313G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2523G>A	12.37:g.71978313G>A	ENSP00000266674:p.Trp841*		Somatic				LGR5_uc001swm.3_Nonsense_Mutation_p.W817*|LGR5_uc021rar.1_Nonsense_Mutation_p.W769*|LGR5_uc001swn.1_Non-coding_Transcript	p.W841*	NM_003667	NP_003658	WXS	Illumina GAIIx	Phase_I	O75473	LGR5_HUMAN			17	2571	+			841					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Nonsense_Mutation	SNP	ENST00000266674.5	37	c.2523G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	36	5.783628	0.96937	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	.	.	.	X	841;769;817	.	ENSP00000266674:W841X	W	+	3	0	LGR5	70264580	1.000000	0.71417	0.931000	0.37212	0.554000	0.35429	5.417000	0.66423	2.812000	0.96745	0.557000	0.71058	TGG		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		25	51	0	0	0	1	0	25	51				
KRTAP20-2	337976	broad.mit.edu	37	21	32007755	32007755	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:32007755G>T	ENST00000330798.2	+	1	201	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	58						intermediate filament (GO:0005882)		p.R58T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507																																						uc011adg.2																			1	Substitution - Missense(1)	p.R58T(2)|p.G57G(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(172-174)aGa>aTa		Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.							162.0	140.0	148.0					21																	32007755		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007755G>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.173G>T	21.37:g.32007755G>T	ENSP00000330746:p.Arg58Ile		Somatic					p.R58I	NM_181616	NP_853647	WXS	Illumina GAIIx	Phase_I	Q3LI61	KR202_HUMAN			0	173	+			58						Missense_Mutation	SNP	ENST00000330798.2	37	c.173G>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034310	0.19590	.	.	ENSG00000184032	ENST00000330798	T	0.11169	2.8	4.62	3.73	0.42828	.	0.000000	0.43919	U	0.000520	T	0.23410	0.0566	.	.	.	0.09310	N	0.999999	D	0.53462	0.96	P	0.57776	0.827	T	0.02226	-1.1192	9	0.87932	D	0	.	10.908	0.47092	0.0:0.1897:0.8103:0.0	.	58	Q3LI61	KR202_HUMAN	I	58	ENSP00000330746:R58I	ENSP00000330746:R58I	R	+	2	0	KRTAP20-2	30929626	0.004000	0.15560	0.008000	0.14137	0.003000	0.03518	0.926000	0.28804	1.295000	0.44724	0.650000	0.86243	AGA		0.507	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			8	192	0	0	0	1	0	8	192				
ZNHIT3	9326	broad.mit.edu	37	17	34842567	34842567	+	Silent	SNP	C	C	T	rs139241535	byFrequency	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34842567C>T	ENST00000225410.4	+	1	89	c.24C>T	c.(22-24)acC>acT	p.T8T	ZNHIT3_ENST00000592616.1_Silent_p.T8T|ZNHIT3_ENST00000590858.1_5'UTR|ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000588253.1_5'UTR	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	8					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		AATGTAGCACCGTCGTCTGCG	0.657													C|||	5	0.000998403	0.0038	0.0	5008	,	,		14163	0.0		0.0	False		,,,				2504	0.0				Pancreas(89;112 2361 26810)	uc002hms.1																			0		p.S7I(1)		lung(1)|pancreas(1)|prostate(1)	3						c.(22-24)acC>acT		Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.		C		19,4387		0,19,2184	124.0	117.0	119.0		24	-8.6	0.0	17	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	ZNHIT3	NM_004773.2		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		8/156	34842567	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	9326				regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	g.chr17:34842567C>T	L40410	CCDS11312.1, CCDS62156.1	17q21.1	2014-04-10	2010-09-15	2005-09-08	ENSG00000108278	ENSG00000273611		"""Zinc fingers, HIT-type"""	12309	protein-coding gene	gene with protein product		604500	"""thyroid hormone receptor interactor 3"", ""zinc finger, HIT type 3"""	TRIP3		7776974	Standard	NM_004773		Approved		uc002hms.1	Q15649	OTTHUMG00000188436	ENST00000225410.4:c.24C>T	17.37:g.34842567C>T			Somatic				ZNHIT3_uc010cus.1_Silent_p.T8T|ZNHIT3_uc002hmt.1_Non-coding_Transcript|ZNHIT3_uc010cut.1_Non-coding_Transcript	p.T8T	NM_004773	NP_004764	WXS	Illumina GAIIx	Phase_I	Q15649	ZNHI3_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)	0	95	+		Breast(25;0.00957)|Ovarian(249;0.17)	8					A8K493|K7EQP1|Q8WVJ3	Silent	SNP	ENST00000225410.4	37	c.24C>T	CCDS11312.1																																																																																				0.657	ZNHIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256697.1	NM_004773		11	401	0	0	0	1	0	11	401				
NUDT17	200035	broad.mit.edu	37	1	145588735	145588735	+	Intron	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:145588735G>A	ENST00000334513.5	-	3	388				NUDT17_ENST00000444015.2_Intron	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACACAGAgggagttgcagtc	0.537											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001eof.1																			0				endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9						c.(691-693)ctC>ctT		Homo sapiens cDNA FLJ34433 fis, clone HLUNG2000926.																																				SO:0001627	intron_variant	200035						hydrolase activity|metal ion binding	g.chr1:145588735G>A	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.377-100C>T	1.37:g.145588735G>A			Somatic	OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1695	NUDT17_uc001eoe.3_Intron	p.L231L			WXS	Illumina GAIIx	Phase_I	P0C025	NUD17_HUMAN			0	1727	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		0			Nudix hydrolase.			Silent	SNP	ENST00000334513.5	37	c.693C>T	CCDS30830.1																																																																																				0.537	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038541.3	XM_496395		5	12	0	0	0	1	0	5	12				
IL1R1	3554	broad.mit.edu	37	2	102781357	102781357	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:102781357G>A	ENST00000410023.1	+	4	503	c.185G>A	c.(184-186)aGc>aAc	p.S62N	IL1R1_ENST00000409929.1_Missense_Mutation_p.S62N|IL1R1_ENST00000424272.1_Missense_Mutation_p.S62N|IL1R1_ENST00000233946.3_Missense_Mutation_p.S62N|IL1R1_ENST00000409288.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409329.1_Missense_Mutation_p.S62N|IL1R1_ENST00000409589.1_Missense_Mutation_p.S62N			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	62	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAAGATGACAGCAAGACACCT	0.383																																						uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(184-186)aGc>aAc		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)						114.0	104.0	107.0					2																	102781357		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102781357G>A	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.185G>A	2.37:g.102781357G>A	ENSP00000386380:p.Ser62Asn		Somatic				IL1R1_uc010fix.3_Missense_Mutation_p.S62N|IL1R1_uc002tbr.3_Missense_Mutation_p.S62N	p.S62N	NM_000877	NP_000868	WXS	Illumina GAIIx	Phase_I	P14778	IL1R1_HUMAN			3	503	+			62			Ig-like C2-type 1.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.185G>A	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	8.646	0.897012	0.17686	.	.	ENSG00000115594	ENST00000452403;ENST00000409929;ENST00000424272;ENST00000409589;ENST00000409329;ENST00000450319;ENST00000442590;ENST00000409288;ENST00000410023;ENST00000233946;ENST00000430171	T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;0.23;-0.4;-0.4;0.23;-0.4;-0.4;-0.4;0.23	5.63	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220091	0.56097	N	0.000038	T	0.64724	0.2624	M	0.74258	2.255	0.09310	N	0.999999	B;B;P	0.36171	0.043;0.039;0.541	B;B;B	0.37480	0.021;0.017;0.251	T	0.59500	-0.7443	10	0.36615	T	0.2	.	9.1598	0.37016	0.1662:0.0:0.8338:0.0	.	62;62;62	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	N	62	ENSP00000386776:S62N;ENSP00000415366:S62N;ENSP00000386555:S62N;ENSP00000387131:S62N;ENSP00000411627:S62N;ENSP00000393296:S62N;ENSP00000386478:S62N;ENSP00000386380:S62N;ENSP00000233946:S62N;ENSP00000408101:S62N	ENSP00000233946:S62N	S	+	2	0	IL1R1	102147789	0.159000	0.22864	0.508000	0.27688	0.310000	0.27922	1.405000	0.34635	1.532000	0.49169	0.655000	0.94253	AGC		0.383	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			3	92	0	0	0	1	0	3	92				
IGSF1	3547	broad.mit.edu	37	X	130416966	130416966	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:130416966T>A	ENST00000361420.3	-	6	1019	c.940A>T	c.(940-942)Atc>Ttc	p.I314F	IGSF1_ENST00000370903.3_Missense_Mutation_p.I314F|IGSF1_ENST00000370910.1_Missense_Mutation_p.I305F|IGSF1_ENST00000370904.1_Missense_Mutation_p.I305F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	314					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCACCCAGATTTTCAGGACA	0.433																																						uc004ewe.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(940-942)Atc>Ttc		Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.							106.0	87.0	93.0					X																	130416966		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416966T>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.940A>T	X.37:g.130416966T>A	ENSP00000355010:p.Ile314Phe		Somatic				IGSF1_uc004ewd.3_Missense_Mutation_p.I314F|IGSF1_uc022cdv.1_Missense_Mutation_p.I305F|IGSF1_uc004ewf.2_Missense_Mutation_p.I294F	p.I314F	NM_001170961	NP_001164432	WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			5	1223	-			314					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.940A>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154942	0.57259	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00986	5.47;5.47;5.47;5.47	4.14	2.98	0.34508	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.136068	0.34200	N	0.004174	T	0.02767	0.0083	M	0.84773	2.715	0.38150	D	0.938707	B;P	0.46784	0.029;0.884	B;P	0.49887	0.022;0.625	T	0.37126	-0.9719	10	0.87932	D	0	.	5.332	0.15938	0.0:0.1283:0.0:0.8717	.	305;314	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	F	305;314;305;314	ENSP00000359947:I305F;ENSP00000355010:I314F;ENSP00000359941:I305F;ENSP00000359940:I314F	ENSP00000355010:I314F	I	-	1	0	IGSF1	130244647	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.751000	0.26348	0.746000	0.32786	0.481000	0.45027	ATC		0.433	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			49	89	0	0	0	1	0	49	89				
DMXL1	1657	broad.mit.edu	37	5	118556676	118556676	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:118556676C>A	ENST00000311085.8	+	36	8194	c.8114C>A	c.(8113-8115)aCa>aAa	p.T2705K	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.T2726K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2705										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GATGATTTAACAGCTGTTCAA	0.388																																						uc010jcl.1																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(8176-8178)aCa>aAa		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							102.0	96.0	98.0					5																	118556676		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118556676C>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8114C>A	5.37:g.118556676C>A	ENSP00000309690:p.Thr2705Lys		Somatic				DMXL1_uc003ksd.2_Missense_Mutation_p.T2705K|DMXL1_uc021ycw.1_Missense_Mutation_p.T2532K	p.T2726K	NM_005509	NP_005500	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	36	8358	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2705						Missense_Mutation	SNP	ENST00000311085.8	37	c.8177C>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	8.596	0.885651	0.17540	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09255	3.01;3.0	5.15	4.28	0.50868	.	0.296401	0.36200	N	0.002723	T	0.04543	0.0124	N	0.03608	-0.345	0.25894	N	0.983435	B;B	0.21309	0.054;0.018	B;B	0.23574	0.047;0.021	T	0.36286	-0.9754	10	0.28530	T	0.3	-2.2964	6.8607	0.24066	0.0:0.6836:0.1469:0.1696	.	2726;2705	F5H269;Q9Y485	.;DMXL1_HUMAN	K	2705;2726	ENSP00000309690:T2705K;ENSP00000439479:T2726K	ENSP00000309690:T2705K	T	+	2	0	DMXL1	118584575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.805000	0.27112	1.178000	0.42870	0.563000	0.77884	ACA		0.388	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	100	0	0	0	1	0	3	100				
SUV420H1	51111	broad.mit.edu	37	11	67925361	67925361	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67925361A>G	ENST00000304363.4	-	11	2805	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	818					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACTGACTATAGTCATCCACC	0.448																																						uc001onm.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2452-2454)Tat>Cat		Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.							141.0	149.0	147.0					11																	67925361		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925361A>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2452T>C	11.37:g.67925361A>G	ENSP00000305899:p.Tyr818His		Somatic				SUV420H1_uc009yse.1_Missense_Mutation_p.Y404H|SUV420H1_uc001onn.1_Missense_Mutation_p.Y646H|SUV420H1_uc009ysf.2_Missense_Mutation_p.Y578H	p.Y818H	NM_017635	NP_060105	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			10	2708	-			818					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2452T>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387423	0.42308	.	.	ENSG00000110066	ENST00000304363	T	0.46819	0.86	5.71	5.71	0.89125	.	0.381500	0.28989	N	0.013489	T	0.50051	0.1593	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.43956	-0.9359	10	0.31617	T	0.26	-20.6141	15.9773	0.80079	1.0:0.0:0.0:0.0	.	818	Q4FZB7	SV421_HUMAN	H	818	ENSP00000305899:Y818H	ENSP00000305899:Y818H	Y	-	1	0	SUV420H1	67681937	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	6.373000	0.73128	2.189000	0.69895	0.402000	0.26972	TAT		0.448	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		62	106	0	0	0	1	0	62	106				
COL20A1	57642	broad.mit.edu	37	20	61947922	61947922	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:61947922G>A	ENST00000358894.6	+	21	2642	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	COL20A1_ENST00000326996.6_Missense_Mutation_p.A848T|COL20A1_ENST00000435874.1_Missense_Mutation_p.A855T|COL20A1_ENST00000422202.1_Missense_Mutation_p.A855T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	848	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGATGGTGGCCTTCAGCCT	0.652																																						uc011aau.2																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(2542-2544)Gcc>Acc		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							28.0	31.0	30.0					20																	61947922		2020	4163	6183	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61947922G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2542G>A	20.37:g.61947922G>A	ENSP00000351767:p.Ala848Thr		Somatic				COL20A1_uc011aav.2_Missense_Mutation_p.A669T	p.A848T	NM_020882	NP_065933	WXS	Illumina GAIIx	Phase_I	Q9P218	COKA1_HUMAN			20	2642	+	all_cancers(38;1.39e-10)		848			TSP N-terminal.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.2542G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099723	0.20552	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.02280	4.36;4.36;4.36;4.36	4.04	2.07	0.26955	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.064438	0.64402	D	0.000008	T	0.03564	0.0102	M	0.77103	2.36	0.31770	N	0.632265	B;B	0.19073	0.033;0.021	B;B	0.21360	0.034;0.024	T	0.14615	-1.0466	10	0.19147	T	0.46	.	7.9111	0.29791	0.2022:0.0:0.7978:0.0	.	855;848	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	848;848;855;855	ENSP00000351767:A848T;ENSP00000323077:A848T;ENSP00000408690:A855T;ENSP00000414753:A855T	ENSP00000323077:A848T	A	+	1	0	COL20A1	61418367	0.863000	0.29885	0.504000	0.27639	0.197000	0.23852	2.947000	0.49058	0.318000	0.23185	-0.498000	0.04607	GCC		0.652	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	10	0	0	0	1	0	7	10				
MYO19	80179	broad.mit.edu	37	17	34870998	34870998	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34870998T>A	ENST00000431794.3	-	8	1097	c.575A>T	c.(574-576)aAc>aTc	p.N192I	MYO19_ENST00000544606.1_Missense_Mutation_p.N58I|MYO19_ENST00000586007.1_Missense_Mutation_p.N192I|MYO19_ENST00000268852.9_Missense_Mutation_p.N192I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	192	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGACTGCTGTTGTTATTCCT	0.517																																						uc010wcy.2																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(574-576)aAc>aTc		Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.							127.0	118.0	121.0					17																	34870998		1976	4146	6122	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity	g.chr17:34870998T>A	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.575A>T	17.37:g.34870998T>A	ENSP00000409936:p.Asn192Ile		Somatic				MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.N192I|MYO19_uc010wcz.1_Intron|MYO19_uc010wda.1_Missense_Mutation_p.N58I|MYO19_uc002hmx.2_Missense_Mutation_p.N192I	p.N192I	NM_001163735	NP_001157207	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	8	1567	-		Breast(25;0.00957)|Ovarian(249;0.17)	192			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.575A>T	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.034666	0.93575	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.97041	-4.22;-4.22;-4.22	5.92	5.92	0.95590	Myosin head, motor domain (3);	0.000000	0.46442	D	0.000283	D	0.99133	0.9701	H	0.98487	4.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99010	1.0814	10	0.87932	D	0	.	15.1902	0.73038	0.0:0.0:0.0:1.0	.	58;192;192;192	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	I	192;192;58	ENSP00000409936:N192I;ENSP00000268852:N192I;ENSP00000438365:N58I	ENSP00000268852:N192I	N	-	2	0	MYO19	31945111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.448000	0.80631	2.274000	0.75844	0.533000	0.62120	AAC		0.517	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		10	34	0	0	0	1	0	10	34				
ZNF804A	91752	broad.mit.edu	37	2	185801992	185801992	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:185801992G>C	ENST00000302277.6	+	4	2463	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	623							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGAAGCAGAGAATAGTTACA	0.338																																						uc002uph.3																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(1867-1869)gaG>gaC		Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.							93.0	102.0	99.0					2																	185801992		2203	4298	6501	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801992G>C	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1869G>C	2.37:g.185801992G>C	ENSP00000303252:p.Glu623Asp		Somatic					p.E623D	NM_194250	NP_919226	WXS	Illumina GAIIx	Phase_I	Q7Z570	Z804A_HUMAN			3	2463	+			623					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1869G>C	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	1.725	-0.495507	0.04291	.	.	ENSG00000170396	ENST00000302277	T	0.06768	3.26	5.51	-4.13	0.03904	.	0.867750	0.09913	N	0.739495	T	0.04861	0.0131	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44314	-0.9336	10	0.21014	T	0.42	0.3984	5.3017	0.15781	0.2526:0.5183:0.1294:0.0998	.	623	Q7Z570	Z804A_HUMAN	D	623	ENSP00000303252:E623D	ENSP00000303252:E623D	E	+	3	2	ZNF804A	185510237	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.171000	0.09883	-0.729000	0.04875	-0.176000	0.13171	GAG		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		5	262	0	0	0	1	0	5	262				
ZNF160	90338	broad.mit.edu	37	19	53572532	53572532	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:53572532G>A	ENST00000429604.1	-	7	1670	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF160_ENST00000599056.1_Missense_Mutation_p.H419Y|ZNF160_ENST00000601421.1_Missense_Mutation_p.H383Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H419Y	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	419					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTGTGGATTGTCTGA	0.428																																						uc010eqk.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(1255-1257)Cac>Tac		Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.							134.0	135.0	135.0					19																	53572532		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572532G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1255C>T	19.37:g.53572532G>A	ENSP00000406201:p.His419Tyr		Somatic				ZNF160_uc002qaq.4_Missense_Mutation_p.H419Y|ZNF160_uc002qar.4_Missense_Mutation_p.H419Y	p.H419Y	NM_001102603	NP_942596	WXS	Illumina GAIIx	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	6	1671	-			419					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1255C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623158	0.46840	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.67523	-0.27;-0.27	2.47	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83496	0.5267	M	0.91920	3.255	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.86693	0.1924	9	0.87932	D	0	.	12.0276	0.53380	0.0:0.0:1.0:0.0	.	419	Q9HCG1	ZN160_HUMAN	Y	419	ENSP00000406201:H419Y;ENSP00000409597:H419Y	ENSP00000409597:H419Y	H	-	1	0	ZNF160	58264344	0.795000	0.28851	0.300000	0.25030	0.596000	0.36781	3.801000	0.55545	1.361000	0.45981	0.561000	0.74099	CAC		0.428	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		5	196	0	0	0	1	0	5	196				
LCMT1	51451	broad.mit.edu	37	16	25175977	25175977	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:25175977G>A	ENST00000399069.3	+	7	783	c.628G>A	c.(628-630)Gca>Aca	p.A210T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.A155T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	210					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGAGCAGTCCGCAAACCTCCT	0.428																																					Colon(200;565 2072 24396 47922 50898)	uc002dnx.1																			0											c.(628-630)Gca>Aca		Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	L-Leucine(DB00149)						106.0	100.0	102.0					16																	25175977		1921	4151	6072	SO:0001583	missense	51451						S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding	g.chr16:25175977G>A	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.628G>A	16.37:g.25175977G>A	ENSP00000382021:p.Ala210Thr		Somatic				LCMT1_uc002dny.1_Missense_Mutation_p.A155T	p.A210T	NM_016309	NP_057393	WXS	Illumina GAIIx	Phase_I	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	6	786	+			210					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.628G>A	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008454	0.35415	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.23754	1.93;1.89	5.83	4.87	0.63330	.	0.054809	0.85682	D	0.000000	T	0.21590	0.0520	L	0.56769	1.78	0.49051	D	0.999742	B;P	0.36683	0.31;0.565	B;B	0.27715	0.041;0.082	T	0.04103	-1.0977	10	0.16420	T	0.52	-14.865	13.0896	0.59160	0.0783:0.0:0.9217:0.0	.	155;210	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	210;155;227	ENSP00000382021:A210T;ENSP00000370353:A155T	ENSP00000370349:A227T	A	+	1	0	LCMT1	25083478	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	5.359000	0.66074	1.449000	0.47699	0.563000	0.77884	GCA		0.428	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		3	131	0	0	0	1	0	3	131				
TSTD2	158427	broad.mit.edu	37	9	100364973	100364973	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:100364973G>A	ENST00000341170.4	-	10	1711	c.1329C>T	c.(1327-1329)acC>acT	p.T443T		NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	443										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCAGGGCAGGTCAAAACGA	0.527																																						uc004axn.3																			0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1327-1329)acC>acT		Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.							150.0	132.0	138.0					9																	100364973		2203	4300	6503	SO:0001819	synonymous_variant	158427							g.chr9:100364973G>A	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.1329C>T	9.37:g.100364973G>A			Somatic				TSTD2_uc004axo.3_Silent_p.T217T	p.T443T	NM_139246	NP_640339	WXS	Illumina GAIIx	Phase_I	Q5T7W7	TSTD2_HUMAN			9	1817	-			443					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Silent	SNP	ENST00000341170.4	37	c.1329C>T	CCDS6727.2																																																																																				0.527	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	NM_139246		3	126	0	0	0	1	0	3	126				
CPZ	8532	broad.mit.edu	37	4	8605771	8605771	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:8605771T>A	ENST00000360986.4	+	4	739	c.565T>A	c.(565-567)Tcc>Acc	p.S189T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.S178T|CPZ_ENST00000382480.2_Missense_Mutation_p.S52T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	189					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCCACCACTCCTACGCCCA	0.697																																						uc003glm.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(565-567)Tcc>Acc		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.							29.0	24.0	26.0					4																	8605771		2169	4264	6433	SO:0001583	missense	8532				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605771T>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.565T>A	4.37:g.8605771T>A	ENSP00000354255:p.Ser189Thr		Somatic				CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.S178T|CPZ_uc003gln.3_Missense_Mutation_p.S52T	p.S189T	NM_001014447	NP_001014448	WXS	Illumina GAIIx	Phase_I	Q66K79	CBPZ_HUMAN			3	739	+			189					O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.565T>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711953	0.30322	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.03386	3.95;3.95;3.95	3.86	2.68	0.31781	.	0.481325	0.23556	N	0.046902	T	0.05547	0.0146	M	0.65498	2.005	0.80722	D	1	B;B	0.33904	0.423;0.431	B;B	0.37422	0.249;0.178	T	0.28870	-1.0030	10	0.51188	T	0.08	-27.092	4.4065	0.11411	0.1733:0.0955:0.0:0.7311	.	178;189	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	189;52;178	ENSP00000354255:S189T;ENSP00000371920:S52T;ENSP00000315074:S178T	ENSP00000315074:S178T	S	+	1	0	CPZ	8656671	0.997000	0.39634	1.000000	0.80357	0.611000	0.37282	1.520000	0.35899	0.555000	0.29079	0.454000	0.30748	TCC		0.697	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	67	0	0	0	1	0	5	67				
PRR35	146325	broad.mit.edu	37	16	613508	613508	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:613508C>G	ENST00000409413.3	+	2	493	c.214C>G	c.(214-216)Cca>Gca	p.P72A		NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		72										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCTAGACTCCCCAGACTGGGC	0.662																																						uc002chk.3																			0				central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(214-216)Cca>Gca		Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.							78.0	83.0	81.0					16																	613508		2067	4183	6250	SO:0001583	missense	146325							g.chr16:613508C>G																												ENST00000409413.3:c.214C>G	16.37:g.613508C>G	ENSP00000386499:p.Pro72Ala		Somatic					p.P72A	NM_145270	NP_660313	WXS	Illumina GAIIx	Phase_I	P0CG20	CP011_HUMAN			1	493	+			72					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000409413.3	37	c.214C>G	CCDS45365.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238020	0.39598	.	.	ENSG00000161992	ENST00000409413	.	.	.	5.19	4.02	0.46733	.	0.164918	0.29165	N	0.012955	T	0.50292	0.1607	M	0.62723	1.935	0.27116	N	0.962257	D	0.56035	0.974	P	0.54270	0.747	T	0.46105	-0.9215	9	0.62326	D	0.03	.	9.5396	0.39244	0.0:0.8866:0.0:0.1134	.	72	P0CG20	CP011_HUMAN	A	72	.	ENSP00000386499:P72A	P	+	1	0	C16orf11	553509	0.831000	0.29352	0.957000	0.39632	0.147000	0.21601	0.535000	0.23114	2.422000	0.82143	0.557000	0.71058	CCA		0.662	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			15	35	0	0	0	1	0	15	35				
SLC1A5	6510	broad.mit.edu	37	19	47281988	47281988	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:47281988G>A	ENST00000542575.2	-	5	1630	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC1A5_ENST00000434726.2_Silent_p.Y132Y|SLC1A5_ENST00000594991.1_Silent_p.Y158Y|SLC1A5_ENST00000412532.2_Silent_p.Y106Y	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	334					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGAAGCGGTAGGGGTTTT	0.597																																						uc002pfs.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1000-1002)taC>taT		Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	L-Asparagine(DB00174)|L-Glutamine(DB00130)						95.0	88.0	90.0					19																	47281988		2203	4300	6503	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47281988G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1002C>T	19.37:g.47281988G>A			Somatic				SLC1A5_uc010xyh.2_Silent_p.Y132Y|SLC1A5_uc002pfq.3_Silent_p.Y158Y|SLC1A5_uc002pfr.3_Silent_p.Y106Y	p.Y334Y	NM_005628	NP_001138616	WXS	Illumina GAIIx	Phase_I	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	4	1622	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	334					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.1002C>T	CCDS12692.1																																																																																				0.597	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			3	63	0	0	0	1	0	3	63				
KDM2A	22992	broad.mit.edu	37	11	67012703	67012703	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67012703C>T	ENST00000529006.2	+	14	2053	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KDM2A_ENST00000308783.5_5'UTR|KDM2A_ENST00000398645.2_Missense_Mutation_p.P536L|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.P97L	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	536					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCTACCATCCCCATTACGAAG	0.527																																						uc001ojw.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(1606-1608)cCc>cTc		Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.							153.0	159.0	157.0					11																	67012703		1968	4122	6090	SO:0001583	missense	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67012703C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1607C>T	11.37:g.67012703C>T	ENSP00000432786:p.Pro536Leu		Somatic				KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.P230L|KDM2A_uc010rpn.2_Missense_Mutation_p.P97L|KDM2A_uc001ojz.1_5'UTR	p.P536L	NM_012308	NP_036440	WXS	Illumina GAIIx	Phase_I	Q9Y2K7	KDM2A_HUMAN			13	2471	+			536					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	c.1607C>T	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413809	0.83449	.	.	ENSG00000173120	ENST00000398645;ENST00000529006;ENST00000530342;ENST00000446134	T;T;T	0.48522	0.81;2.12;1.74	5.36	5.36	0.76844	.	0.107024	0.64402	D	0.000003	T	0.30916	0.0780	N	0.14661	0.345	0.80722	D	1	P	0.35383	0.498	B	0.26864	0.074	T	0.17228	-1.0376	10	0.46703	T	0.11	-16.3043	17.461	0.87620	0.0:1.0:0.0:0.0	.	536	Q9Y2K7	KDM2A_HUMAN	L	536;536;97;97	ENSP00000381640:P536L;ENSP00000432786:P536L;ENSP00000435776:P97L	ENSP00000381640:P536L	P	+	2	0	KDM2A	66769279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.075000	0.50073	2.793000	0.96121	0.650000	0.86243	CCC		0.527	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		109	203	0	0	0	1	0	109	203				
DNTTIP1	116092	broad.mit.edu	37	20	44432018	44432018	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:44432018G>A	ENST00000372622.3	+	8	671		c.e8+1			NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1							nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCCCCAAGGTATGATTATG	0.507																																						uc002xpk.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e8+1		Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.							77.0	65.0	69.0					20																	44432018		2203	4300	6503	SO:0001630	splice_region_variant	116092					nucleus		g.chr20:44432018G>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.603+1G>A	20.37:g.44432018G>A			Somatic					p.K201_splice	NM_052951	NP_443183	WXS	Illumina GAIIx	Phase_I	Q9H147	TDIF1_HUMAN			8	671	+		Myeloproliferative disorder(115;0.0122)	201					B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	37	c.603_splice	CCDS13369.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085705	0.55861	.	.	ENSG00000101457	ENST00000372622;ENST00000456939;ENST00000435014	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.633	0.88114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNTTIP1	43865425	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	6.376000	0.73141	2.750000	0.94351	0.467000	0.42956	.		0.507	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	Intron	15	47	0	0	0	1	0	15	47				
ADAM30	11085	broad.mit.edu	37	1	120436924	120436924	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:120436924C>A	ENST00000369400.1	-	1	2194	c.2036G>T	c.(2035-2037)aGa>aTa	p.R679I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	679					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATCGCCCCTCTGAGCAGTCC	0.468																																						uc001eij.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2035-2037)aGa>aTa		Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.							63.0	62.0	62.0					1																	120436924		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436924C>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2036G>T	1.37:g.120436924C>A	ENSP00000358407:p.Arg679Ile		Somatic					p.R679I	NM_021794	NP_068566	WXS	Illumina GAIIx	Phase_I	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	0	2224	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	679					A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.2036G>T	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489260	0.26686	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01234	5.13	5.05	-10.1	0.00402	.	.	.	.	.	T	0.00356	0.0011	L	0.42245	1.32	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47886	-0.9082	9	0.39692	T	0.17	.	1.978	0.03420	0.2494:0.3937:0.0882:0.2687	.	679	Q9UKF2	ADA30_HUMAN	I	679	ENSP00000358407:R679I	ENSP00000358407:R679I	R	-	2	0	ADAM30	120238447	.	.	0.000000	0.03702	0.002000	0.02628	.	.	-1.750000	0.01328	-0.150000	0.13652	AGA		0.468	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		3	98	0	0	0	1	0	3	98				
POU2AF1	5450	broad.mit.edu	37	11	111228348	111228348	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:111228348G>A	ENST00000393067.3	-	4	792	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CAGGGTGGCCGGGGTGGGCTG	0.627			T	BCL6	NHL																																	uc001plg.4				Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(277-279)cCg>cTg		Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.							25.0	26.0	26.0					11																	111228348		2201	4296	6497	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111228348G>A		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.278C>T	11.37:g.111228348G>A	ENSP00000376786:p.Pro93Leu		Somatic					p.P93L	NM_006235	NP_006226	WXS	Illumina GAIIx	Phase_I	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	3	533	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	93					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.278C>T	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256272	0.59321	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.32753	1.44;1.44	5.16	4.24	0.50183	.	0.347372	0.30547	N	0.009398	T	0.25680	0.0625	L	0.43152	1.355	0.47214	D	0.999352	P	0.44090	0.826	B	0.35859	0.212	T	0.05162	-1.0902	10	0.52906	T	0.07	-25.191	14.7413	0.69458	0.0:0.0:0.854:0.146	.	93	Q16633	OBF1_HUMAN	L	93;95	ENSP00000376786:P93L;ENSP00000433527:P95L	ENSP00000376786:P93L	P	-	2	0	POU2AF1	110733558	1.000000	0.71417	0.991000	0.47740	0.493000	0.33554	3.462000	0.53042	1.162000	0.42619	0.498000	0.49722	CCG		0.627	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		3	68	0	0	0	1	0	3	68				
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:69424816C>A	ENST00000333026.3	+	7	974	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	292					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463																																						uc004dxx.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(874-876)Cca>Aca		Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.							72.0	62.0	65.0					X																	69424816		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69424816C>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.874C>A	X.37:g.69424816C>A	ENSP00000328036:p.Pro292Thr		Somatic					p.P292T	NM_198512	NP_940914	WXS	Illumina GAIIx	Phase_I	Q6ZPD8	DG2L6_HUMAN			6	971	+			292					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.874C>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963458	0.34659	.	.	ENSG00000184210	ENST00000333026	D	0.93076	-3.16	4.74	4.74	0.60224	.	0.209758	0.33712	N	0.004629	D	0.93400	0.7895	L	0.45051	1.395	0.36801	D	0.885337	D	0.63880	0.993	D	0.66716	0.946	D	0.92002	0.5611	10	0.22109	T	0.4	-16.5379	9.3478	0.38120	0.2129:0.7871:0.0:0.0	.	292	Q6ZPD8	DG2L6_HUMAN	T	292	ENSP00000328036:P292T	ENSP00000328036:P292T	P	+	1	0	DGAT2L6	69341541	1.000000	0.71417	0.995000	0.50966	0.727000	0.41649	4.436000	0.59948	2.202000	0.70862	0.600000	0.82982	CCA		0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		7	21	0	0	0	1	0	7	21				
ARMC1	55156	broad.mit.edu	37	8	66525624	66525624	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:66525624T>C	ENST00000276569.3	-	4	564	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	ARMC1_ENST00000458464.2_Intron|ARMC1_ENST00000523384.1_5'UTR	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	107					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGAATGTCATAGATTTCAGA	0.348																																						uc003xvl.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(319-321)tAt>tGt		Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.							132.0	127.0	129.0					8																	66525624		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66525624T>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.320A>G	8.37:g.66525624T>C	ENSP00000276569:p.Tyr107Cys		Somatic				ARMC1_uc011leo.2_Intron	p.Y107C	NM_018120	NP_060590	WXS	Illumina GAIIx	Phase_I	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		3	575	-			107					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.320A>G	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224115	0.79576	.	.	ENSG00000104442	ENST00000276569;ENST00000518908;ENST00000519352	T;T;T	0.46451	0.87;0.87;0.87	6.02	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.58934	-0.7548	10	0.56958	D	0.05	.	12.2416	0.54546	0.0:0.0663:0.0:0.9337	.	107	Q9NVT9	ARMC1_HUMAN	C	107	ENSP00000276569:Y107C;ENSP00000429191:Y107C;ENSP00000429715:Y107C	ENSP00000276569:Y107C	Y	-	2	0	ARMC1	66688178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.094000	0.41399	0.533000	0.62120	TAT		0.348	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		52	77	0	0	0	1	0	52	77				
SYTL3	94120	broad.mit.edu	37	6	159178397	159178397	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:159178397A>G	ENST00000297239.9	+	13	1486	c.1292A>G	c.(1291-1293)cAt>cGt	p.H431R	SYTL3_ENST00000360448.3_Missense_Mutation_p.H363R|SYTL3_ENST00000367081.3_Missense_Mutation_p.H157R			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	431					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCCGCTGGCATCCGCTCCGG	0.527																																						uc003qrp.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20						c.(1291-1293)cAt>cGt		Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.							90.0	77.0	82.0					6																	159178397		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159178397A>G	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1292A>G	6.37:g.159178397A>G	ENSP00000297239:p.His431Arg		Somatic				SYTL3_uc003qrr.3_Missense_Mutation_p.H431R|SYTL3_uc003qro.3_Missense_Mutation_p.H363R|SYTL3_uc003qrs.3_Missense_Mutation_p.H363R|SYTL3_uc011efq.2_Missense_Mutation_p.H157R	p.H431R	NM_001242384	NP_001229313	WXS	Illumina GAIIx	Phase_I	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	14	1691	+		Breast(66;0.000776)|Ovarian(120;0.0303)	431					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.1292A>G	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675109	0.29783	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.07567	3.18;3.18;3.18	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.320887	0.29892	N	0.010939	T	0.03348	0.0097	N	0.22421	0.69	0.23795	N	0.996827	B;B;B	0.25667	0.12;0.023;0.131	B;B;B	0.33960	0.104;0.009;0.173	T	0.34925	-0.9809	10	0.48119	T	0.1	.	14.812	0.70003	1.0:0.0:0.0:0.0	.	157;431;363	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	R	363;431;431;157	ENSP00000353631:H363R;ENSP00000297239:H431R;ENSP00000356048:H157R	ENSP00000297239:H431R	H	+	2	0	SYTL3	159098385	1.000000	0.71417	0.023000	0.16930	0.141000	0.21300	8.231000	0.89794	1.909000	0.55274	0.402000	0.26972	CAT		0.527	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			18	83	0	0	0	1	0	18	83				
HEATR1	55127	broad.mit.edu	37	1	236729279	236729279	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:236729279G>C	ENST00000366582.3	-	31	4489	c.4375C>G	c.(4375-4377)Cag>Gag	p.Q1459E	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q1378E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1459					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGTATCTGATGCTGGACA	0.378																																						uc001hyd.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(4375-4377)Cag>Gag		Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.							125.0	118.0	120.0					1																	236729279		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236729279G>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4375C>G	1.37:g.236729279G>C	ENSP00000355541:p.Gln1459Glu		Somatic				HEATR1_uc009xgh.2_Missense_Mutation_p.Q621E	p.Q1459E	NM_018072	NP_060542	WXS	Illumina GAIIx	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		30	4527	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1459					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.4375C>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486495	0.84854	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.65178	-0.14;1.53	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.66506	2.035	0.80722	D	1	P;D	0.76494	0.895;0.999	P;D	0.71656	0.57;0.974	T	0.80144	-0.1505	10	0.66056	D	0.02	.	17.8195	0.88645	0.0:0.0:1.0:0.0	.	1378;1459	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	E	1459;1378	ENSP00000355541:Q1459E;ENSP00000355540:Q1378E	ENSP00000355540:Q1378E	Q	-	1	0	HEATR1	234795902	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	8.240000	0.89813	2.423000	0.82170	0.655000	0.94253	CAG		0.378	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		34	58	0	0	0	1	0	34	58				
NFAT5	10725	broad.mit.edu	37	16	69726422	69726422	+	Silent	SNP	G	G	A	rs369235958		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:69726422G>A	ENST00000354436.2	+	12	2958	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NFAT5_ENST00000349945.1_Silent_p.Q804Q|NFAT5_ENST00000566899.1_Silent_p.Q804Q|NFAT5_ENST00000393742.2_Silent_p.Q804Q|NFAT5_ENST00000432919.1_Silent_p.Q898Q|NFAT5_ENST00000567239.1_Silent_p.Q897Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	880	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478																																						uc002exl.2																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2692-2694)caG>caA		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							44.0	43.0	43.0					16																	69726422		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726422G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2640G>A	16.37:g.69726422G>A			Somatic				NFAT5_uc002exj.2_Silent_p.Q804Q|NFAT5_uc002exk.2_Silent_p.Q804Q|NFAT5_uc002exn.2_Silent_p.Q897Q|NFAT5_uc002exm.2_Silent_p.Q880Q|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Silent_p.Q804Q	p.Q898Q	NM_138713	NP_775322	WXS	Illumina GAIIx	Phase_I	O94916	NFAT5_HUMAN			12	3030	+			880					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.2694G>A	CCDS10881.1																																																																																				0.478	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		3	63	0	0	0	1	0	3	63				
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:2129435T>C	ENST00000345016.5	-	7	845	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.N205S|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000356926.4_Intron	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGACATTGACGGCAGC	0.577																																						uc002lva.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(613-615)aAt>aGt		Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.							99.0	105.0	103.0					19																	2129435		1983	4162	6145	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity	g.chr19:2129435T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.614A>G	19.37:g.2129435T>C	ENSP00000344055:p.Asn205Ser		Somatic				AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.N205S	p.N205S	NM_003938	NP_003929	WXS	Illumina GAIIx	Phase_I	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	837	-		Hepatocellular(1079;0.137)	205					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.614A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586684	0.66105	.	.	ENSG00000065000	ENST00000345016;ENST00000355272;ENST00000343722	T;T	0.12039	2.72;2.72	4.58	4.58	0.56647	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.33030	0.0849	M	0.62154	1.92	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.80764	0.994;0.896	T	0.03121	-1.1070	10	0.48119	T	0.1	-50.3823	13.4298	0.61049	0.0:0.0:0.0:1.0	.	205;205	O14617-5;O14617	.;AP3D1_HUMAN	S	205	ENSP00000344055:N205S;ENSP00000347416:N205S	ENSP00000341579:N205S	N	-	2	0	AP3D1	2080435	1.000000	0.71417	0.975000	0.42487	0.298000	0.27526	7.775000	0.85489	1.828000	0.53243	0.533000	0.62120	AAT		0.577	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			11	82	0	0	0	1	0	11	82				
ATP4A	495	broad.mit.edu	37	19	36045884	36045884	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:36045884G>A	ENST00000262623.3	-	16	2449	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	807					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGCACGCTGACGGTGATGT	0.547																																						uc002oal.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2419-2421)gtC>gtT		Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						259.0	194.0	216.0					19																	36045884		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36045884G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2421C>T	19.37:g.36045884G>A			Somatic				ATP4A_uc010eee.1_5'UTR	p.V807V	NM_000704	NP_000695	WXS	Illumina GAIIx	Phase_I	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2450	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		807					O00738	Silent	SNP	ENST00000262623.3	37	c.2421C>T	CCDS12467.1																																																																																				0.547	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		47	59	0	0	0	1	0	47	59				
HNRNPUL2	221092	broad.mit.edu	37	11	62494174	62494174	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:62494174C>T	ENST00000301785.5	-	1	647	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TTC9C_ENST00000532583.1_5'Flank|TTC9C_ENST00000316461.4_5'Flank|TTC9C_ENST00000513247.2_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.R152K	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	152	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCTTCCTCCCTCTTGCCGAG	0.706																																						uc001nuw.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(454-456)aGg>aAg		Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.							18.0	22.0	21.0					11																	62494174		1958	4147	6105	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62494174C>T		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.455G>A	11.37:g.62494174C>T	ENSP00000301785:p.Arg152Lys		Somatic				HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	p.R152K	NM_001079559	NP_001073027	WXS	Illumina GAIIx	Phase_I	Q1KMD3	HNRL2_HUMAN			0	684	-			152			Glu-rich.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.455G>A	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237388	0.10023	.	.	ENSG00000214753	ENST00000301785	T	0.63096	-0.02	4.11	3.18	0.36537	.	0.310182	0.30446	N	0.009616	T	0.31513	0.0799	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.26467	-1.0102	10	0.02654	T	1	-2.225	6.2835	0.21021	0.0:0.7029:0.192:0.1051	.	152	Q1KMD3	HNRL2_HUMAN	K	152	ENSP00000301785:R152K	ENSP00000301785:R152K	R	-	2	0	HNRNPUL2	62250750	0.004000	0.15560	0.939000	0.37840	0.457000	0.32468	0.695000	0.25527	1.019000	0.39547	0.462000	0.41574	AGG		0.706	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		17	34	0	0	0	1	0	17	34				
DNAH8	1769	broad.mit.edu	37	6	38749066	38749066	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:38749066C>T	ENST00000359357.3	+	14	1779	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R726C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R509C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	509					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTCTTGCTCGCAACATGCC	0.383																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2176-2178)Cgc>Tgc		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							76.0	79.0	78.0					6																	38749066		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38749066C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1525C>T	6.37:g.38749066C>T	ENSP00000352312:p.Arg509Cys		Somatic				DNAH8_uc003ooe.2_Missense_Mutation_p.R509C	p.R726C	NM_001206927	NP_001193856	WXS	Illumina GAIIx	Phase_I					15	2285	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.2176C>T		.	.	.	.	.	.	.	.	.	.	C	19.71	3.877486	0.72294	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60040	0.22;0.22;0.22	5.57	4.62	0.57501	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.86864	2.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.79502	-0.1777	10	0.87932	D	0	.	15.5155	0.75822	0.1471:0.8529:0.0:0.0	.	509	Q96JB1	DYH8_HUMAN	C	714;714;509;509	ENSP00000333363:R714C;ENSP00000352312:R509C;ENSP00000402294:R509C	ENSP00000333363:R714C	R	+	1	0	DNAH8	38857044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.010000	0.49559	2.627000	0.88993	0.543000	0.68304	CGC		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		50	108	0	0	0	1	0	50	108				
ASH1L	55870	broad.mit.edu	37	1	155307970	155307970	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:155307970T>C	ENST00000368346.3	-	27	9367	c.8728A>G	c.(8728-8730)Acc>Gcc	p.T2910A	ASH1L_ENST00000392403.3_Missense_Mutation_p.T2905A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2910					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGGTACAGGTTGACTGGGGT	0.488																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8728-8730)Acc>Gcc		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							220.0	181.0	194.0					1																	155307970		2203	4300	6503	SO:0001583	missense	55870				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155307970T>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8728A>G	1.37:g.155307970T>C	ENSP00000357330:p.Thr2910Ala		Somatic				ASH1L_uc001fkt.3_Missense_Mutation_p.T2905A	p.T2910A	NM_018489	NP_060959	WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		26	9208	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2910					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.8728A>G		.	.	.	.	.	.	.	.	.	.	T	0.040	-1.289941	0.01387	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.87571	-2.27;-2.27	5.53	3.53	0.40419	.	0.896397	0.09979	N	0.731268	T	0.46737	0.1408	N	0.08118	0	0.34129	D	0.665037	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41502	-0.9505	10	0.02654	T	1	.	3.3304	0.07082	0.1635:0.5333:0.2088:0.0944	.	2910;2905	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	A	2910;2905	ENSP00000357330:T2910A;ENSP00000376204:T2905A	ENSP00000357330:T2910A	T	-	1	0	ASH1L	153574594	0.209000	0.23505	0.910000	0.35882	0.418000	0.31294	0.442000	0.21628	1.540000	0.49301	-0.242000	0.12053	ACC		0.488	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		34	89	0	0	0	1	0	34	89				
FUT10	84750	broad.mit.edu	37	8	33247184	33247184	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:33247184G>A	ENST00000327671.5	-	4	1140	c.509C>T	c.(508-510)aCt>aTt	p.T170I	FUT10_ENST00000335589.3_Missense_Mutation_p.T108I|FUT10_ENST00000524021.1_Missense_Mutation_p.T142I|FUT10_ENST00000518672.1_Missense_Mutation_p.T142I|FUT10_ENST00000518076.1_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	170					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAACGTGGCAGTGTAGTTGAA	0.463																																						uc011lbi.2																			0		p.D220N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29						c.(658-660)aCt>aTt		Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.							148.0	124.0	132.0					8																	33247184		2203	4300	6503	SO:0001583	missense	84750				L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr8:33247184G>A	AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.509C>T	8.37:g.33247184G>A	ENSP00000332757:p.Thr170Ile		Somatic				FUT10_uc003xjc.3_Missense_Mutation_p.T177I|FUT10_uc003xjd.3_Missense_Mutation_p.T142I|FUT10_uc003xje.3_Missense_Mutation_p.T170I|FUT10_uc003xjf.3_Missense_Mutation_p.T108I|FUT10_uc003xjg.3_Missense_Mutation_p.T142I|FUT10_uc003xjh.3_Missense_Mutation_p.T170I	p.T220I			WXS	Illumina GAIIx	Phase_I	Q6P4F1	FUT10_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)	3	825	-			170					A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	c.659C>T	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	g	23.5	4.422331	0.83559	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.17	5.17	0.71159	.	0.062472	0.64402	D	0.000006	T	0.76169	0.3950	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.983;1.0;0.996	D;D;D;P;D;D	0.87578	0.998;0.979;0.998;0.885;0.998;0.992	T	0.82499	-0.0427	10	0.87932	D	0	-16.3317	16.5555	0.84484	0.0:0.0:1.0:0.0	.	220;170;142;108;170;212	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	I	170;212;142;142;108	ENSP00000332757:T170I;ENSP00000430428:T142I;ENSP00000429870:T142I;ENSP00000334997:T108I	ENSP00000332757:T170I	T	-	2	0	FUT10	33366726	1.000000	0.71417	0.965000	0.40720	0.959000	0.62525	9.782000	0.99034	2.562000	0.86427	0.552000	0.68991	ACT		0.463	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664		3	154	0	0	0	1	0	3	154				
DEPDC5	9681	broad.mit.edu	37	22	32215193	32215193	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:32215193A>G	ENST00000382112.3	+	21	1922	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	DEPDC5_ENST00000382105.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.M618V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.M618V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.M618V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.M590V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	618					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGCGCTGGATGCACACTTT	0.557																																						uc011alu.2																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1852-1854)Atg>Gtg		Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.							105.0	103.0	104.0					22																	32215193		2003	4177	6180	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32215193A>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1852A>G	22.37:g.32215193A>G	ENSP00000371546:p.Met618Val		Somatic				DEPDC5_uc011als.2_Missense_Mutation_p.M618V|DEPDC5_uc003als.3_Missense_Mutation_p.M618V|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.M618V|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.M58V|DEPDC5_uc011alt.2_Missense_Mutation_p.M590V	p.M618V	NM_001242896	NP_001229825	WXS	Illumina GAIIx	Phase_I	O75140	DEPD5_HUMAN			21	2054	+			618					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1852A>G	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.949|7.949	0.744424|0.744424	0.15710|0.15710	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T;T	.|0.28895	.|1.61;1.61;2.0;2.07;1.99;1.59;2.07;1.99;2.07	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.41373|0.41373	0.1156|0.1156	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|B;P;P;B;B;B	.|0.48911	.|0.091;0.917;0.865;0.119;0.041;0.073	.|B;D;P;B;B;B	.|0.63488	.|0.011;0.915;0.824;0.019;0.011;0.008	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.16420	.|T	.|0.52	.|.	15.3408|15.3408	0.74296|0.74296	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|618;590;618;618;618;618	.|B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	G|V	15|618;590;618;618;618;618;618;618;618;618	.|ENSP00000440210:M618V;ENSP00000441358:M590V;ENSP00000266091:M618V;ENSP00000383108:M618V;ENSP00000383105:M618V;ENSP00000371539:M618V;ENSP00000371546:M618V;ENSP00000371545:M618V;ENSP00000383107:M618V	.|ENSP00000266091:M618V	D|M	+|+	2|1	0|0	DEPDC5|DEPDC5	30545193|30545193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.198000|6.198000	0.72106|0.72106	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		26	100	0	0	0	1	0	26	100				
OR2Z1	284383	broad.mit.edu	37	19	8842269	8842269	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8842269G>A	ENST00000324060.2	+	1	954	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGTCTGAGGAATCCGGAGG	0.522																																						uc010xkg.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(877-879)agG>agA		Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.							123.0	108.0	113.0					19																	8842269		2203	4300	6503	SO:0001819	synonymous_variant	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842269G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.879G>A	19.37:g.8842269G>A			Somatic					p.R293R	NM_001004699	NP_001004699	WXS	Illumina GAIIx	Phase_I	Q8NG97	OR2Z1_HUMAN			0	879	+			293					B9EH50|Q6IFK0|Q96R25	Silent	SNP	ENST00000324060.2	37	c.879G>A	CCDS32895.1																																																																																				0.522	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			5	119	0	0	0	1	0	5	119				
MUC16	94025	broad.mit.edu	37	19	9065420	9065420	+	Silent	SNP	T	T	G	rs537879149		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:9065420T>G	ENST00000397910.4	-	3	22229	c.22026A>C	c.(22024-22026)acA>acC	p.T7342T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7344	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCTAATGTAAAGGTAC	0.458																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(22024-22026)acA>acC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							129.0	129.0	129.0					19																	9065420		1972	4156	6128	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065420T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22026A>C	19.37:g.9065420T>G			Somatic					p.T7342T	NM_024690	NP_078966	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			2	22230	-			7344			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22026A>C	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		33	57	0	0	0	1	0	33	57				
FLG	2312	broad.mit.edu	37	1	152275908	152275908	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:152275908C>T	ENST00000368799.1	-	3	11489	c.11454G>A	c.(11452-11454)caG>caA	p.Q3818Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3818	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGACTGTTCCTCAT	0.582									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11452-11454)caG>caA		Homo sapiens filaggrin (FLG), mRNA.							353.0	347.0	349.0					1																	152275908		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275908C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11454G>A	1.37:g.152275908C>T			Somatic					p.Q3818Q	NM_002016	NP_002007	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11490	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3818			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11454G>A	CCDS30860.1																																																																																				0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	611	0	0	0	1	0	5	611				
ARID1B	57492	broad.mit.edu	37	6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:157528133G>A	ENST00000350026.5	+	19	5820	c.5819G>A	c.(5818-5820)cGt>cAt	p.R1940H	ARID1B_ENST00000367148.1_Missense_Mutation_p.R1993H|ARID1B_ENST00000275248.4_Missense_Mutation_p.R1935H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1953H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1940					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1935H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATATTGTCCGTAGCTTGTCA	0.557																																						uc003qqn.3																			1	Substitution - Missense(1)	p.R1935H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5977-5979)cGt>cAt		Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.							130.0	127.0	128.0					6																	157528133		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528133G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5819G>A	6.37:g.157528133G>A	ENSP00000055163:p.Arg1940His		Somatic				ARID1B_uc003qqo.3_Missense_Mutation_p.R1953H|ARID1B_uc003qqp.3_Missense_Mutation_p.R1940H	p.R1993H	NM_020732	NP_059989	WXS	Illumina GAIIx	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5978	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1940					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5978G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550387	0.65311	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.74051	-0.3789	10	0.87932	D	0	.	18.182	0.89781	0.0:0.0:1.0:0.0	.	1940;1953;1935	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1953;1940;1993;1935;1462	ENSP00000344546:R1953H;ENSP00000055163:R1940H;ENSP00000356116:R1993H;ENSP00000275248:R1935H;ENSP00000412835:R1462H	ENSP00000275248:R1935H	R	+	2	0	ARID1B	157569825	1.000000	0.71417	0.920000	0.36463	0.849000	0.48306	9.813000	0.99286	2.347000	0.79759	0.563000	0.77884	CGT		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		5	263	0	0	0	1	0	5	263				
GNAS	2778	broad.mit.edu	37	20	57428474	57428474	+	Missense_Mutation	SNP	G	G	A	rs527488103		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:57428474G>A	ENST00000371100.4	+	1	706	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.E52K|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.E52K	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GATGGAGACCGAACCGCCTCA	0.652			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		12823	0.0		0.0	False		,,,				2504	0.0				Colon(117;935 1597 6045 8307 46442)	uc002xzw.3				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(154-156)Gaa>Aaa		Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.							17.0	20.0	19.0					20																	57428474		1878	4111	5989	SO:0001583	missense	2778				G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428474G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.154G>A	20.37:g.57428474G>A	ENSP00000360141:p.Glu52Lys	TSP Lung(22;0.16)	Somatic				GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	p.E52K	NM_080425	NP_001070958	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		0	439	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.154G>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573898	0.45902	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.90133	-2.62;-2.61	4.56	-9.12	0.00707	.	.	.	.	.	D	0.83225	0.5208	L	0.51422	1.61	0.45035	D	0.998054	P	0.34587	0.458	B	0.20184	0.028	T	0.63571	-0.6607	9	0.29301	T	0.29	.	17.8853	0.88852	0.0704:0.7712:0.1584:0.0	.	52	Q5JWF2	GNAS1_HUMAN	K	52	ENSP00000360141:E52K;ENSP00000360143:E52K	ENSP00000360140:E52K	E	+	1	0	GNAS	56861869	0.321000	0.24625	0.085000	0.20634	0.950000	0.60333	-0.906000	0.04071	-1.973000	0.00999	-0.300000	0.09419	GAA		0.652	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		2	6	0	0	0	1	0	2	6				
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:227945177T>C	ENST00000396625.3	-	24	1992	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_ENST00000329662.7_Silent_p.K595K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	595	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(1783-1785)aaA>aaG		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							126.0	126.0	126.0					2																	227945177		1858	4099	5957	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227945177T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1785A>G	2.37:g.227945177T>C			Somatic				COL4A4_uc021vxs.1_Silent_p.K595K	p.K595K	NM_000092	NP_000083	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	22	1886	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	595			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.1785A>G	CCDS42828.1																																																																																				0.463	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	221	0	0	0	1	0	3	221				
SNAPC5	10302	broad.mit.edu	37	15	66782756	66782756	+	3'UTR	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr15:66782756T>C	ENST00000563480.2	-	0	636				SNAPC5_ENST00000395589.2_3'UTR|MAP2K1_ENST00000307102.5_Intron|CTD-3185P2.2_ENST00000602360.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA|MAP2K1_ENST00000566326.1_Intron			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa						gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						GCTCTAGACCTGAAACTCTTG	0.493																																						uc002apt.1																			0				breast(1)|large_intestine(1)	2						c.(325-327)tcA>tcG		Homo sapiens small nuclear RNA activating complex, polypeptide 5, 19kDa (SNAPC5), mRNA.																																				SO:0001624	3_prime_UTR_variant	10302				transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr15:66782756T>C	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000563480.2:c.*321A>G	15.37:g.66782756T>C			Somatic				MAP2K1_uc010bhq.3_Intron|MAP2K1_uc010ujp.2_Intron|SNAPC5_uc002apu.1_3'UTR	p.S109S			WXS	Illumina GAIIx	Phase_I	O75971	SNPC5_HUMAN			1	367	-			16					A8K7N6|Q96CF3	Silent	SNP	ENST00000563480.2	37	c.327A>G	CCDS10217.1																																																																																				0.493	SNAPC5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420727.2			11	19	0	0	0	1	0	11	19				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		52	83	0	0	0	1	0	52	83				
ERRFI1	54206	broad.mit.edu	37	1	8074413	8074413	+	Silent	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:8074413T>A	ENST00000377482.5	-	4	469	c.246A>T	c.(244-246)gcA>gcT	p.A82A	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_Nonsense_Mutation_p.R57*|ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	82					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GACCATTTTCTGCAAAGCAGT	0.443																																						uc001aoz.3																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(244-246)gcA>gcT		Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.							114.0	119.0	117.0					1																	8074413		2200	4292	6492	SO:0001819	synonymous_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding	g.chr1:8074413T>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.246A>T	1.37:g.8074413T>A			Somatic				ERRFI1_uc001apa.1_Silent_p.A7A	p.A82A	NM_018948	NP_061821	WXS	Illumina GAIIx	Phase_I	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	495	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	82					B2RDX9|Q9NTG9|Q9UD05	Silent	SNP	ENST00000377482.5	37	c.246A>T	CCDS94.1																																																																																				0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		4	256	0	0	0	1	0	4	256				
KIAA1958	158405	broad.mit.edu	37	9	115337082	115337082	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:115337082A>G	ENST00000337530.6	+	2	1018	c.722A>G	c.(721-723)cAc>cGc	p.H241R	KIAA1958_ENST00000374244.3_Missense_Mutation_p.H241R|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H241R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	241										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCAGACTCACGCTGGTCCC	0.532																																						uc011lwx.1																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(721-723)cAc>cGc		Homo sapiens KIAA1958 (KIAA1958), mRNA.							141.0	120.0	127.0					9																	115337082		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115337082A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.722A>G	9.37:g.115337082A>G	ENSP00000336940:p.His241Arg		Somatic				KIAA1958_uc004bgf.1_Missense_Mutation_p.H241R	p.H241R	NM_133465	NP_597722	WXS	Illumina GAIIx	Phase_I	Q8N8K9	K1958_HUMAN			1	897	+			241					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.722A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.688461	0.29962	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.39056	1.1;1.1;1.1	6.07	6.07	0.98685	.	0.074603	0.56097	D	0.000029	T	0.24236	0.0587	N	0.14661	0.345	0.35834	D	0.825546	P;B	0.42827	0.791;0.396	B;B	0.37650	0.255;0.043	T	0.32241	-0.9914	10	0.44086	T	0.13	-7.9383	8.2071	0.31463	0.7311:0.1373:0.0:0.1316	.	241;241	B7ZKW6;Q8N8K9	.;K1958_HUMAN	R	241	ENSP00000336940:H241R;ENSP00000363362:H241R;ENSP00000440504:H241R	ENSP00000336940:H241R	H	+	2	0	KIAA1958	114376903	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.007000	0.57093	2.326000	0.78906	0.533000	0.62120	CAC		0.532	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		50	132	0	0	0	1	0	50	132				
SIGLEC1	6614	broad.mit.edu	37	20	3675022	3675022	+	Silent	SNP	G	G	A	rs551720638		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:3675022G>A	ENST00000344754.4	-	12	3101	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SIGLEC1_ENST00000202578.4_Silent_p.P1034P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1034	Ig-like C2-type 10.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTGCCTTCGGGTCCCCCCA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		17030	0.0		0.0	False		,,,				2504	0.001					uc002wja.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3100-3102)ccC>ccT		Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.							55.0	57.0	57.0					20																	3675022		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3675022G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3102C>T	20.37:g.3675022G>A			Somatic				SIGLEC1_uc002wiz.4_Silent_p.P1034P|SIGLEC1_uc002wjb.1_5'Flank	p.P1034P	NM_023068	NP_075556	WXS	Illumina GAIIx	Phase_I	Q9BZZ2	SN_HUMAN			11	3102	-			1034			Ig-like C2-type 10.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3102C>T	CCDS13060.1																																																																																				0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		39	92	0	0	0	1	0	39	92				
FBN3	84467	broad.mit.edu	37	19	8146248	8146248	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8146248A>G	ENST00000600128.1	-	58	7744	c.7330T>C	c.(7330-7332)Tgc>Cgc	p.C2444R	FBN3_ENST00000601739.1_Missense_Mutation_p.C2444R|FBN3_ENST00000270509.2_Missense_Mutation_p.C2444R			Q75N90	FBN3_HUMAN	fibrillin 3	2444	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTTGCAGGTCCTGCCA	0.587																																						uc002mjf.3																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7330-7332)Tgc>Cgc		Homo sapiens fibrillin 3 (FBN3), mRNA.							78.0	71.0	73.0					19																	8146248		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8146248A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7330T>C	19.37:g.8146248A>G	ENSP00000470498:p.Cys2444Arg		Somatic				FBN3_uc002mje.3_Missense_Mutation_p.C283R	p.C2444R	NM_032447	NP_115823	WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			56	7347	-			2444			EGF-like 39; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.7330T>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126670	0.56721	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99914	-7.98	4.82	4.82	0.62117	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.114302	0.64402	U	0.000009	D	0.99953	0.9980	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.96008	0.8999	10	0.87932	D	0	.	14.3687	0.66823	1.0:0.0:0.0:0.0	.	2444;550	Q75N90;Q6ZNB8	FBN3_HUMAN;.	R	2444;550	ENSP00000270509:C2444R	ENSP00000270509:C2444R	C	-	1	0	FBN3	8052248	1.000000	0.71417	0.952000	0.39060	0.338000	0.28826	8.872000	0.92352	1.810000	0.52873	0.391000	0.25812	TGC		0.587	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	54	0	0	0	1	0	3	54				
MRPL4	51073	broad.mit.edu	37	19	10369175	10369175	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10369175G>A	ENST00000253099.6	+	7	926	c.639G>A	c.(637-639)ggG>ggA	p.G213G	MRPL4_ENST00000590669.1_Silent_p.G213G|MRPL4_ENST00000588502.1_Silent_p.G212G|MRPL4_ENST00000307422.5_Silent_p.G213G|MRPL4_ENST00000393733.2_Silent_p.G213G|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.4_ENST00000587088.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	213					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G213G(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GCCGCTGGGGGGACTCCGTAC	0.647																																						uc002mnm.3																			1	Substitution - coding silent(1)	p.G213G(2)	large_intestine(1)	breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(637-639)ggG>ggA		Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							64.0	70.0	68.0					19																	10369175		2203	4300	6503	SO:0001819	synonymous_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369175G>A	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.639G>A	19.37:g.10369175G>A			Somatic				MRPL4_uc002mnn.3_Silent_p.G213G|MRPL4_uc002mno.3_Silent_p.G213G	p.G213G	NM_146387	NP_666499	WXS	Illumina GAIIx	Phase_I	Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	7	793	+		Renal(1328;0.0112)	213					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	ENST00000253099.6	37	c.639G>A	CCDS12230.1																																																																																				0.647	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			3	124	0	0	0	1	0	3	124				
ZCCHC16	340595	broad.mit.edu	37	X	111698774	111698774	+	Missense_Mutation	SNP	G	G	A	rs368859857		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:111698774G>A	ENST00000340433.2	+	1	1048	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	273							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGAGCCCGCCAGCAAGAA	0.552																																						uc004epo.1																			0		p.A272A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(817-819)cGc>cAc		Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.		G	HIS/ARG	0,3835		0,0,0,1632,571	66.0	68.0	67.0		818	-2.8	0.2	X		67	2,6726		0,1,1,2427,1871	no	missense	ZCCHC16	NM_001004308.2	29	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	possibly-damaging	273/311	111698774	2,10561	2203	4300	6503	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698774G>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.818G>A	X.37:g.111698774G>A	ENSP00000340590:p.Arg273His		Somatic				ZCCHC16_uc022cct.1_Missense_Mutation_p.R273H	p.R273H	NM_001004308	NP_001004308	WXS	Illumina GAIIx	Phase_I	Q6ZR62	ZCH16_HUMAN			2	1259	+			273					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.818G>A	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	G	3.910	-0.020201	0.07634	0.0	2.97E-4	ENSG00000187823	ENST00000340433	T	0.77229	-1.08	4.12	-2.82	0.05787	.	0.205055	0.24678	N	0.036493	T	0.69611	0.3130	M	0.64567	1.98	0.09310	N	0.999998	B	0.18013	0.025	B	0.11329	0.006	T	0.57723	-0.7762	10	0.52906	T	0.07	-8.2136	10.5022	0.44813	0.7109:0.0:0.2891:0.0	.	273	Q6ZR62	ZCH16_HUMAN	H	273	ENSP00000340590:R273H	ENSP00000340590:R273H	R	+	2	0	ZCCHC16	111585430	0.010000	0.17322	0.152000	0.22495	0.116000	0.19942	-1.221000	0.02968	-0.976000	0.03542	-2.157000	0.00329	CGC		0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		4	161	0	0	0	1	0	4	161				
PSD2	84249	broad.mit.edu	37	5	139216458	139216458	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:139216458C>T	ENST00000274710.3	+	10	1671	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	489					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGGCACGAAGAAGGTG	0.592																																						uc003leu.1																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38						c.(1465-1467)aCg>aTg		Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.							171.0	153.0	159.0					5																	139216458		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216458C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1466C>T	5.37:g.139216458C>T	ENSP00000274710:p.Thr489Met		Somatic					p.T489M	NM_032289	NP_115665	WXS	Illumina GAIIx	Phase_I	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1671	+			489					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1466C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800130	0.50208	.	.	ENSG00000146005	ENST00000274710	T	0.12465	2.68	5.37	3.5	0.40072	.	0.368838	0.31041	N	0.008370	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	0.999997	D	0.61697	0.99	P	0.49361	0.608	T	0.09840	-1.0656	10	0.42905	T	0.14	.	11.0402	0.47827	0.0:0.8407:0.0:0.1593	.	489	Q9BQI7	PSD2_HUMAN	M	489	ENSP00000274710:T489M	ENSP00000274710:T489M	T	+	2	0	PSD2	139196642	0.967000	0.33354	0.775000	0.31657	0.778000	0.44026	2.568000	0.45965	0.576000	0.29452	-0.378000	0.06908	ACG		0.592	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		6	201	0	0	0	1	0	6	201				
RRP7B	91695	broad.mit.edu	37	22	42976253	42976253	+	RNA	DEL	A	A	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:42976253delA	ENST00000357802.2	-	0	222							Q9NSQ0	RRP7B_HUMAN	ribosomal RNA processing 7 homolog B (S. cerevisiae)																		CATTGAAGACAAAAAGAGTCC	0.557																																						uc003bcs.3																			0													Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.																																						91695							g.chr22:42976253delA			22q13.2	2011-05-25				ENSG00000182841			30454	pseudogene	pseudogene							Standard	NR_002184		Approved	dJ222E13.2	uc003bcs.3	Q9NSQ0			22.37:g.42976253delA			Somatic				RRP7B_uc003bct.3_Non-coding_Transcript				WXS	Illumina GAIIx	Phase_I					1		-									RNA	DEL	ENST00000357802.2	37	c.196delT																																																																																					0.557	RRP7B-001	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000320446.1	NM_170698		9	9						9	9	---	---	---	---
