#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(679-681)Gac>Aac		C1q and tumor necrosis factor related protein 1							133.0	104.0	114.0					17																	77044003		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77044003G>A	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.679G>A	17.37:g.77044003G>A	ENSP00000340864:p.Asp227Asn					C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N	p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		5	1234	+			227			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.679G>A	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331789	0.81801	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.977;0.977;1.0	P;P;D	0.74348	0.701;0.701;0.983	T	0.42632	-0.9440	10	0.49607	T	0.09	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	237;237;227	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	227;145;237;227;237	ENSP00000340864:D227N;ENSP00000311265:D145N;ENSP00000343230:D237N	ENSP00000311265:D145N	D	+	1	0	C1QTNF1	74555598	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	GAC		0.577	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		23	65	0	0	0	1	0	23	65				
HLA-DMB	3109	broad.mit.edu	37	6	32908535	32908535	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:32908535C>A	ENST00000418107.2	-	1	312	c.50G>T	c.(49-51)gGa>gTa	p.G17V	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G49V|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.G17V	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	17					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTTACCTGCTCCTGTGCAGCC	0.557																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(49-51)gGa>gTa		major histocompatibility complex, class II, DM beta							35.0	26.0	29.0					6																	32908535		1510	2709	4219	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32908535C>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.50G>T	6.37:g.32908535C>A	ENSP00000398890:p.Gly17Val					XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G49V|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G17V	p.G17V			P28068	DMB_HUMAN			1	244	-			17					O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.50G>T	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670745	0.47781	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.25250	5.41;5.18;1.81	5.37	2.59	0.31030	.	1.713730	0.03511	N	0.219533	T	0.08268	0.0206	L	0.38531	1.155	0.25817	N	0.984326	B;B;B	0.15930	0.005;0.001;0.015	B;B;B	0.17722	0.012;0.005;0.019	T	0.30119	-0.9989	10	0.66056	D	0.02	.	3.9227	0.09250	0.1688:0.5813:0.1628:0.0872	.	17;17;26	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	V	17;17;17;49	ENSP00000398890:G17V;ENSP00000391010:G17V;ENSP00000412457:G49V	ENSP00000391010:G17V	G	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33016513	0.217000	0.23597	0.170000	0.22879	0.676000	0.39594	0.381000	0.20619	0.380000	0.24823	0.643000	0.83706	GGA		0.557	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		11	18	1	0	3.07112e-06	1	3.18924e-06	11	18				
MYO1C	4641	broad.mit.edu	37	17	1371366	1371366	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:1371366G>A	ENST00000575158.1	-	28	2883	c.2707C>T	c.(2707-2709)Cgg>Tgg	p.R903W	MYO1C_ENST00000545534.2_Missense_Mutation_p.R914W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R903W|MYO1C_ENST00000438665.2_Missense_Mutation_p.R919W|MYO1C_ENST00000359786.5_Missense_Mutation_p.R938W			Q12965	MYO1E_HUMAN	myosin IC	782	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCAGCTGCCGGGAGCGAGGC	0.627																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(2812-2814)Cgg>Tgg		myosin IC							57.0	53.0	54.0					17																	1371366		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1371366G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2707C>T	17.37:g.1371366G>A	ENSP00000459174:p.Arg903Trp					MYO1C_ENST00000438665.2_Missense_Mutation_p.R919W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R903W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R914W|MYO1C_ENST00000575158.1_Missense_Mutation_p.R903W	p.R938W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	28	3136	-			938					Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.2812C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239817	0.58995	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.7	3.57	0.40892	Myosin tail 2 (1);	0.000000	0.85682	D	0.000000	T	0.75729	0.3889	M	0.90425	3.115	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81437	-0.0933	10	0.87932	D	0	.	12.8695	0.57957	0.0:0.0:0.5864:0.4136	.	938;919	O00159;O00159-3	MYO1C_HUMAN;.	W	938;919;919;903;914	ENSP00000352834:R938W;ENSP00000412197:R919W;ENSP00000354283:R903W;ENSP00000437685:R914W	ENSP00000352834:R938W	R	-	1	2	MYO1C	1318116	1.000000	0.71417	0.990000	0.47175	0.122000	0.20287	3.844000	0.55873	1.379000	0.46325	0.655000	0.94253	CGG		0.627	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			28	78	0	0	0	1	0	28	78				
OR9A2	135924	broad.mit.edu	37	7	142723328	142723328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142723328G>A	ENST00000350513.2	-	1	954	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R298G(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATCCCATCTCGGAGGGCCTCT	0.428																																						ENST00000350513.2																			1	Substitution - Missense(1)	p.R298G(1)	endometrium(1)	central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(892-894)Cga>Tga		olfactory receptor, family 9, subfamily A, member 2							85.0	91.0	89.0					7																	142723328		2203	4300	6503	SO:0001587	stop_gained	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723328G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.892C>T	7.37:g.142723328G>A	ENSP00000316518:p.Arg298*						p.R298*	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	954	-	Melanoma(164;0.059)		298					B9EH51|Q6IF71|Q8NGD9	Nonsense_Mutation	SNP	ENST00000350513.2	37	c.892C>T	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207798	0.39003	.	.	ENSG00000179468	ENST00000350513	.	.	.	4.46	-7.06	0.01568	.	1.445700	0.05463	U	0.551690	.	.	.	.	.	.	0.25176	N	0.990242	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	0.029	1.1875	0.01858	0.2442:0.3612:0.1832:0.2113	.	.	.	.	X	298	.	ENSP00000316518:R298X	R	-	1	2	OR9A2	142433450	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.113000	0.01331	-1.133000	0.02903	0.462000	0.41574	CGA		0.428	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			80	251	0	0	0	1	0	80	251				
BMS1P20	96610	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G	rs370670957		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TGTAAGTAAAATTCACTTTGG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22662971A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662971A>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	53	0	0	0	1	0	3	53				
POLD1	5424	broad.mit.edu	37	19	50906761	50906761	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:50906761C>T	ENST00000440232.2	+	10	1202	c.1149C>T	c.(1147-1149)acC>acT	p.T383T	POLD1_ENST00000599857.1_Silent_p.T383T|POLD1_ENST00000595904.1_Silent_p.T383T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	383					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTGGTCCACCTTCATCCGTA	0.597								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1147-1149)acC>acT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							221.0	189.0	200.0					19																	50906761		2203	4300	6503	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50906761C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1149C>T	19.37:g.50906761C>T						POLD1_ENST00000595904.1_Silent_p.T383T|POLD1_ENST00000599857.1_Silent_p.T383T	p.T383T	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	10	1202	+		all_neural(266;0.0571)	383					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.1149C>T	CCDS12795.1																																																																																				0.597	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			6	372	0	0	0	1	0	6	372				
KIR3DL1	3811	broad.mit.edu	37	19	55325146	55325146	+	Intron	SNP	T	T	C	rs200479581		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:55325146T>C	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000346587.4_Splice_Site_p.D141D|KIR2DL4_ENST00000357494.4_Splice_Site_p.D219D|KIR3DL1_ENST00000391728.4_5'Flank|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Splice_Site_p.D124D|KIR2DL4_ENST00000396284.2_Splice_Site_p.D291D|KIR3DL1_ENST00000358178.4_5'Flank|KIR3DL1_ENST00000326542.7_5'Flank|KIR2DL4_ENST00000359085.4_Splice_Site_p.M271T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000345540.5_Splice_Site_p.D236D|KIR2DL4_ENST00000463062.1_3'UTR			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTCCTACAGATGCTGCTGTAA	0.522																																						ENST00000396284.2																			0				NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.e7-1		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4							76.0	86.0	83.0					19																	55325146		2151	4138	6289	SO:0001627	intron_variant	0							g.chr19:55325146T>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-3843T>C	19.37:g.55325146T>C						KIR2DL4_ENST00000396293.1_Splice_Site_p.D124_splice|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Splice_Site_p.M271_splice|KIR2DL4_ENST00000346587.4_Splice_Site_p.D141_splice|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000345540.5_Splice_Site_p.D236_splice|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Splice_Site_p.D219_splice	p.D291_splice						GBM - Glioblastoma multiforme(193;0.0192)	7	873	+								O43473|Q14946|Q16541	Splice_Site	SNP	ENST00000538269.1	37	c.871_splice		.	.	.	.	.	.	.	.	.	.	T	3.752	-0.051347	0.07407	.	.	ENSG00000189013	ENST00000359085	T	0.00472	7.19	0.842	0.842	0.18927	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.21064	N	0.999795	.	.	.	.	.	.	T	0.46569	-0.9182	6	0.62326	D	0.03	.	3.968	0.09441	0.0:0.0:0.0:1.0	.	.	.	.	T	271	ENSP00000351988:M271T	ENSP00000351988:M271T	M	+	2	0	KIR2DL4	60016958	0.039000	0.19947	0.043000	0.18650	0.122000	0.20287	0.591000	0.23969	0.620000	0.30215	0.155000	0.16302	ATG		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		24	133	0	0	0	1	0	24	133				
UBE2H	7328	broad.mit.edu	37	7	129474885	129474885	+	Silent	SNP	G	G	A	rs375884538		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:129474885G>A	ENST00000355621.3	-	7	837	c.444C>T	c.(442-444)taC>taT	p.Y148Y	UBE2H_ENST00000473814.2_Silent_p.Y117Y	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	148					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCTCCGTGGCGTATTTCTGGA	0.567																																						ENST00000355621.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10						c.(442-444)taC>taT		ubiquitin-conjugating enzyme E2H		G	,,	0,4406		0,0,2203	79.0	73.0	75.0		234,444,351	-4.7	0.8	7		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	UBE2H	NM_001202498.1,NM_003344.3,NM_182697.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	78/114,148/184,117/153	129474885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7328				protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity	g.chr7:129474885G>A	BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.444C>T	7.37:g.129474885G>A						UBE2H_ENST00000473814.2_Silent_p.Y117Y	p.Y148Y	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN			7	837	-	Melanoma(18;0.0435)		148					A4D1L6|C9JY93|P37286|Q7Z6F4	Silent	SNP	ENST00000355621.3	37	c.444C>T	CCDS5814.1																																																																																				0.567	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2	NM_003344		45	167	0	0	0	1	0	45	167				
AQP10	89872	broad.mit.edu	37	1	154300301	154300301	+	IGR	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:154300301T>C	ENST00000324978.3	+	0	1791				ATP8B2_ENST00000341822.2_5'Flank|ATP8B2_ENST00000368487.3_Intron|ATP8B2_ENST00000368489.3_Missense_Mutation_p.L9P	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10						response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.S11fs*92(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGTTCCCCTTTTTTCAATA	0.527																																						ENST00000368489.3																		IL6R/ATP8B2(2)	1	Deletion - Frameshift(1)	p.S11fs*92(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(25-27)cTt>cCt		ATPase, aminophospholipid transporter, class I, type 8B, member 2							240.0	221.0	228.0					1																	154300301		2203	4300	6503	SO:0001628	intergenic_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154300301T>C	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980		1.37:g.154300301T>C						ATP8B2_ENST00000368487.3_Intron	p.L9P	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	26	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		0					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.26T>C	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.617884	0.28801	.	.	ENSG00000143515	ENST00000368489	T	0.10005	2.92	3.88	1.64	0.23874	.	4.963310	0.00567	N	0.000296	T	0.02380	0.0073	.	.	.	0.09310	N	0.999999	P	0.34684	0.463	B	0.25884	0.064	T	0.33445	-0.9868	9	0.87932	D	0	.	4.2628	0.10749	0.0:0.4534:0.0:0.5466	.	9	P98198-3	.	P	9	ENSP00000357475:L9P	ENSP00000357475:L9P	L	+	2	0	ATP8B2	152566925	0.001000	0.12720	0.065000	0.19835	0.380000	0.30137	-0.009000	0.12765	0.723000	0.32274	0.254000	0.18369	CTT		0.527	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		5	335	0	0	0	1	0	5	335				
SERPINB11	89778	broad.mit.edu	37	18	61379901	61379901	+	RNA	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:61379901G>A	ENST00000382749.5	+	0	576				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGGCTCTACGGGACAAAGAC	0.443																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							109.0	105.0	106.0					18																	61379901		1893	4128	6021			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61379901G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61379901G>A						SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	393	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37			.	.	.	.	.	.	.	.	.	.	G	18.99	3.740739	0.69304	.	.	ENSG00000206072	ENST00000544088	D	0.84873	-1.91	5.44	5.44	0.79542	Serpin domain (3);	.	.	.	.	D	0.93664	0.7976	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94582	0.7780	9	0.87932	D	0	.	17.8241	0.88658	0.0:0.0:1.0:0.0	.	111	Q96P15	SPB11_HUMAN	R	111	ENSP00000441497:G111R	ENSP00000421854:G111R	G	+	1	0	SERPINB11	59530881	1.000000	0.71417	0.561000	0.28357	0.469000	0.32828	6.446000	0.73460	2.552000	0.86080	0.591000	0.81541	GGG		0.443	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		48	130	0	0	0	1	0	48	130				
DIDO1	11083	broad.mit.edu	37	20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAAGGGTGCGGACCCCCGT	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5986-5988)Gca>Aca		death inducer-obliterator 1							85.0	105.0	98.0					20																	61511322		2202	4299	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511322C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5986G>A	20.37:g.61511322C>T	ENSP00000266070:p.Ala1996Thr					DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6311	-	Breast(26;5.68e-08)		1996			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5986G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	6.840	0.524236	0.13066	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	4.91	2.95	0.34219	.	0.339513	0.20856	N	0.084434	T	0.06462	0.0166	L	0.45581	1.43	0.09310	N	0.999999	B	0.21147	0.052	B	0.13407	0.009	T	0.43048	-0.9415	10	0.09843	T	0.71	-4.5369	6.2343	0.20754	0.1314:0.6469:0.0:0.2218	.	1996	Q9BTC0	DIDO1_HUMAN	T	1996	ENSP00000266070:A1996T;ENSP00000378752:A1996T	ENSP00000266070:A1996T	A	-	1	0	DIDO1	60981767	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.406000	0.21032	0.573000	0.29400	0.561000	0.74099	GCA		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		6	559	0	0	0	1	0	6	559				
GPR32	2854	broad.mit.edu	37	19	51274418	51274418	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:51274418C>T	ENST00000270590.4	+	1	698	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	187					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AATGGAATGGCTGTACGCACT	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(559-561)ggC>ggT		G protein-coupled receptor 32							56.0	53.0	54.0					19																	51274418		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274418C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.561C>T	19.37:g.51274418C>T							p.G187G	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	698	+		all_neural(266;0.131)	187					Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.561C>T	CCDS12801.1																																																																																				0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			36	100	0	0	0	1	0	36	100				
ANKRD20A5P	440482	broad.mit.edu	37	18	14179525	14179525	+	RNA	SNP	C	C	T	rs370593176		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:14179525C>T	ENST00000581935.1	+	0	430							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						CTGTCAAGGGCGACGCTGCGG	0.652																																						ENST00000581935.1																			0				lung(3)	3										C		2,4384		0,2,2191	16.0	18.0	17.0			-4.3	0.0	18		17	0,8534		0,0,4267	no	intergenic				0,2,6458	TT,TC,CC		0.0,0.0456,0.0155			14179525	2,12918	2193	4267	6460			0							g.chr18:14179525C>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179525C>T														0	430	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.652	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			17	40	0	0	0	1	0	17	40				
PRSS16	10279	broad.mit.edu	37	6	27222836	27222836	+	Missense_Mutation	SNP	C	C	T	rs369828855		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:27222836C>T	ENST00000230582.3	+	11	1417	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	PRSS16_ENST00000421826.2_Missense_Mutation_p.R211C|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	468					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTTCTTATCCGCACTGGCTC	0.547																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1402-1404)Cgc>Tgc		protease, serine, 16 (thymus)		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	117.0	114.0		1402	3.6	1.0	6		114	0,8600		0,0,4300	no	missense	PRSS16	NM_005865.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	468/515	27222836	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222836C>T	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1402C>T	6.37:g.27222836C>T	ENSP00000230582:p.Arg468Cys					PRSS16_ENST00000421826.2_Missense_Mutation_p.R211C|PRSS16_ENST00000377456.2_3'UTR	p.R468C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			11	1417	+			468					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1402C>T	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250821	0.39797	2.27E-4	0.0	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.14766	2.48;2.48	4.55	3.61	0.41365	.	0.430009	0.25535	N	0.030011	T	0.12774	0.0310	L	0.43923	1.385	0.33465	D	0.585423	D;P	0.71674	0.998;0.952	P;P	0.57548	0.823;0.657	T	0.00783	-1.1568	10	0.62326	D	0.03	-8.4658	9.5792	0.39477	0.3052:0.6948:0.0:0.0	.	211;468	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	C	211;468	ENSP00000404349:R211C;ENSP00000230582:R468C	ENSP00000230582:R468C	R	+	1	0	PRSS16	27330815	0.782000	0.28689	0.990000	0.47175	0.028000	0.11728	1.084000	0.30828	2.546000	0.85860	0.552000	0.68991	CGC		0.547	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			83	223	0	0	0	1	0	83	223				
ARL11	115761	broad.mit.edu	37	13	50204751	50204751	+	Silent	SNP	C	C	T	rs369494120		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr13:50204751C>T	ENST00000282026.1	+	2	503	c.168C>T	c.(166-168)caC>caT	p.H56H	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	56					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CTCCTGGGCACGTGTCACTGA	0.602																																						ENST00000282026.1																			0				kidney(1)|large_intestine(4)|ovary(1)	6						c.(166-168)caC>caT		ADP-ribosylation factor-like 11		C		0,4406		0,0,2203	59.0	58.0	58.0		168	-4.9	0.0	13		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARL11	NM_138450.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		56/197	50204751	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204751C>T	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.168C>T	13.37:g.50204751C>T						ARL11_ENST00000490932.1_Intron	p.H56H	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	503	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	56						Silent	SNP	ENST00000282026.1	37	c.168C>T	CCDS9419.1																																																																																				0.602	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		40	83	0	0	0	1	0	40	83				
FMNL1	752	broad.mit.edu	37	17	43313573	43313573	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:43313573G>A	ENST00000331495.3	+	7	1021	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	FMNL1_ENST00000328118.3_Missense_Mutation_p.V229I|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	229	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGACGTCCACGTCTGTATTAT	0.642											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(685-687)Gtc>Atc		formin-like 1							75.0	69.0	71.0					17																	43313573		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43313573G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.685G>A	17.37:g.43313573G>A	ENSP00000329219:p.Val229Ile		OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V229I	p.V229I	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			7	1021	+			229			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.685G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194677	0.58017	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.89123	-2.47;-2.47	3.93	3.93	0.45458	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.154316	0.43260	D	0.000586	D	0.88764	0.6525	L	0.59912	1.85	0.42692	D	0.993588	D	0.52996	0.957	P	0.48952	0.596	D	0.88003	0.2757	10	0.34782	T	0.22	.	13.8227	0.63333	0.0:0.0:1.0:0.0	.	229	O95466	FMNL_HUMAN	I	229	ENSP00000327442:V229I;ENSP00000329219:V229I	ENSP00000327442:V229I	V	+	1	0	FMNL1	40669356	0.901000	0.30685	0.997000	0.53966	0.940000	0.58332	1.214000	0.32419	2.197000	0.70478	0.561000	0.74099	GTC		0.642	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		30	38	0	0	0	1	0	30	38				
MB21D2	151963	broad.mit.edu	37	3	192517236	192517236	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:192517236G>A	ENST00000392452.2	-	2	735	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGAGTGGCGCATGTCGAGT	0.507																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(415-417)Cgc>Tgc		Mab-21 domain containing 2							92.0	81.0	85.0					3																	192517236		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517236G>A	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.415C>T	3.37:g.192517236G>A	ENSP00000376246:p.Arg139Cys						p.R139C	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	735	-			139					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.415C>T	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517547	0.44763	.	.	ENSG00000180611	ENST00000392452	T	0.08896	3.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	M	0.65975	2.015	0.80722	D	1	P	0.48294	0.908	B	0.39299	0.296	T	0.01330	-1.1383	10	0.59425	D	0.04	-20.9645	18.6977	0.91607	0.0:0.0:1.0:0.0	.	139	Q8IYB1	M21D2_HUMAN	C	139	ENSP00000376246:R139C	ENSP00000376246:R139C	R	-	1	0	MB21D2	193999930	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.110000	0.71535	2.652000	0.90054	0.655000	0.94253	CGC		0.507	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		4	146	0	0	0	1	0	4	146				
FER1L6	654463	broad.mit.edu	37	8	125035786	125035786	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:125035786G>A	ENST00000522917.1	+	18	2442	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T	FER1L6_ENST00000399018.1_Missense_Mutation_p.A746T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	746						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCCCTGTCGCGGGGCAGAT	0.493																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2236-2238)Gcg>Acg		fer-1-like 6 (C. elegans)							73.0	76.0	75.0					8																	125035786		1944	4139	6083	SO:0001583	missense	654463					integral to membrane		g.chr8:125035786G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2236G>A	8.37:g.125035786G>A	ENSP00000428280:p.Ala746Thr					FER1L6_ENST00000399018.1_Missense_Mutation_p.A746T|FER1L6-AS1_ENST00000518567.1_RNA	p.A746T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2442	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		746						Missense_Mutation	SNP	ENST00000522917.1	37	c.2236G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	8.762	0.923940	0.18056	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.70516	-0.49;-0.49	5.81	-2.88	0.05682	Ferlin B-domain (1);	1.193630	0.06174	N	0.678235	T	0.54838	0.1883	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31280	-0.9949	10	0.30078	T	0.28	.	6.2219	0.20685	0.3927:0.2509:0.3564:0.0	.	746	Q2WGJ9	FR1L6_HUMAN	T	746	ENSP00000428280:A746T;ENSP00000381982:A746T	ENSP00000381982:A746T	A	+	1	0	FER1L6	125104967	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.005000	0.12855	-0.726000	0.04895	-1.296000	0.01341	GCG		0.493	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		35	107	0	0	0	1	0	35	107				
EPHB6	2051	broad.mit.edu	37	7	142561851	142561851	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142561851G>A	ENST00000392957.2	+	7	1080	c.293G>A	c.(292-294)cGc>cAc	p.R98H	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R98H	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	98	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGAGCGGCGCGGGGCCCAG	0.652																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(292-294)cGc>cAc		EPH receptor B6							90.0	101.0	97.0					7																	142561851		2203	4300	6503	SO:0001583	missense	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561851G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.293G>A	7.37:g.142561851G>A	ENSP00000376684:p.Arg98His					EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R98H	p.R98H	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1080	+	Melanoma(164;0.059)		98					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.293G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810034	0.16537	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	T;T	0.03801	3.8;3.8	5.6	4.53	0.55603	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.208574	0.24370	N	0.039105	T	0.05547	0.0146	L	0.56124	1.755	0.09310	N	0.999995	P	0.34587	0.458	B	0.26202	0.067	T	0.28235	-1.0050	10	0.46703	T	0.11	.	10.9175	0.47146	0.1593:0.0:0.8407:0.0	.	98	O15197	EPHB6_HUMAN	H	98	ENSP00000376684:R98H;ENSP00000410789:R98H	ENSP00000376684:R98H	R	+	2	0	EPHB6	142271973	0.000000	0.05858	0.417000	0.26559	0.017000	0.09413	0.840000	0.27600	2.640000	0.89533	0.655000	0.94253	CGC		0.652	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			115	399	0	0	0	1	0	115	399				
RAB28	9364	broad.mit.edu	37	4	13378229	13378229	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:13378229C>G	ENST00000330852.5	-	6	727	c.513G>C	c.(511-513)caG>caC	p.Q171H	RAB28_ENST00000338176.4_Missense_Mutation_p.Q171H|RAB28_ENST00000288723.4_Missense_Mutation_p.Q171H	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	171					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						CAGCAACTTTCTGAAAGCACA	0.289																																						ENST00000288723.4																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(511-513)caG>caC		RAB28, member RAS oncogene family							72.0	70.0	70.0					4																	13378229		2203	4300	6503	SO:0001583	missense	0				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13378229C>G	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.513G>C	4.37:g.13378229C>G	ENSP00000328551:p.Gln171His					RAB28_ENST00000338176.4_Missense_Mutation_p.Q171H|RAB28_ENST00000330852.5_Missense_Mutation_p.Q171H	p.Q171H	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN			6	727	-			171					G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	c.513G>C	CCDS33961.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	10.98|10.98|10.98	1.504256|1.504256|1.504256	0.26949|0.26949|0.26949	.|.|.	.|.|.	ENSG00000157869|ENSG00000157869|ENSG00000157869	ENST00000511649|ENST00000330852;ENST00000288723;ENST00000338176|ENST00000504644	.|T;T;T|.	.|0.79940|.	.|-1.32;-1.32;-1.32|.	4.79|4.79|4.79	2.12|2.12|2.12	0.27331|0.27331|0.27331	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.37210|0.37210|0.37210	0.0995|0.0995|0.0995	N|N|N	0.17345|0.17345|0.17345	0.48|0.48|0.48	0.53688|0.53688|0.53688	D|D|D	0.999976|0.999976|0.999976	.|B;B|.	.|0.23891|.	.|0.093;0.057|.	.|B;B|.	.|0.29267|.	.|0.1;0.05|.	T|T|T	0.04915|0.04915|0.04915	-1.0918|-1.0918|-1.0918	5|10|5	.|0.34782|.	.|T|.	.|0.22|.	.|.|.	8.8298|8.8298|8.8298	0.35076|0.35076|0.35076	0.0:0.6909:0.0:0.3091|0.0:0.6909:0.0:0.3091|0.0:0.6909:0.0:0.3091	.|.|.	.|171;171|.	.|P51157;P51157-2|.	.|RAB28_HUMAN;.|.	Q|H|T	94|171|41	.|ENSP00000328551:Q171H;ENSP00000288723:Q171H;ENSP00000340079:Q171H|.	.|ENSP00000288723:Q171H|.	E|Q|R	-|-|-	1|3|2	0|2|0	RAB28|RAB28|RAB28	12987327|12987327|12987327	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	0.978000|0.978000|0.978000	0.29488|0.29488|0.29488	0.110000|0.110000|0.110000	0.17919|0.17919|0.17919	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	GAA|CAG|AGA		0.289	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		62	178	0	0	0	1	0	62	178				
ABI2	10152	broad.mit.edu	37	2	204259426	204259426	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:204259426G>A	ENST00000422511.2	+	6	613	c.582G>A	c.(580-582)cgG>cgA	p.R194R	ABI2_ENST00000261018.7_Intron|ABI2_ENST00000261017.5_Silent_p.R188R|ABI2_ENST00000261016.6_Silent_p.R143R|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000424558.1_Silent_p.R188R|ABI2_ENST00000295851.5_Silent_p.R194R|ABI2_ENST00000430418.1_Intron|ABI2_ENST00000430574.1_3'UTR			Q9NYB9	ABI2_HUMAN	abl-interactor 2	194	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)	p.R188R(2)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						TTTGTAGGCGGCACTCCCCCT	0.473																																						ENST00000295851.4																			2	Substitution - coding silent(2)	p.R188R(2)	lung(1)|kidney(1)	breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						c.(580-582)cgG>cgA		abl-interactor 2							104.0	97.0	99.0					2																	204259426		2203	4300	6503	SO:0001819	synonymous_variant	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204259426G>A	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.582G>A	2.37:g.204259426G>A						ABI2_ENST00000261018.7_Intron|ABI2_ENST00000424558.1_Silent_p.R188R|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Intron|RAPH1_ENST00000457812.1_3'UTR|ABI2_ENST00000261016.6_Silent_p.R143R|ABI2_ENST00000422511.2_Silent_p.R194R|ABI2_ENST00000261017.5_Silent_p.R188R	p.R194R			Q9NYB9	ABI2_HUMAN			6	878	+			194			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Silent	SNP	ENST00000422511.2	37	c.582G>A		.	.	.	.	.	.	.	.	.	.	G	9.026	0.986067	0.18889	.	.	ENSG00000138443	ENST00000451591;ENST00000454023	.	.	.	5.86	4.92	0.64577	.	.	.	.	.	T	0.54647	0.1871	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52487	-0.8569	4	.	.	.	-12.0231	5.5849	0.17269	0.0791:0.1073:0.6174:0.1962	.	.	.	.	D	60;35	.	.	G	+	2	0	ABI2	203967671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.874000	0.28065	2.776000	0.95493	0.650000	0.86243	GGC		0.473	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		4	208	0	0	0	1	0	4	208				
TFAP2C	7022	broad.mit.edu	37	20	55206327	55206327	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:55206327C>G	ENST00000201031.2	+	2	358	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	39	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CGGGCAGCACCTCTACAGCCC	0.637																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(115-117)Ctc>Gtc		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							41.0	43.0	42.0					20																	55206327		2203	4300	6503	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206327C>G		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.115C>G	20.37:g.55206327C>G	ENSP00000201031:p.Leu39Val					TFAP2C_ENST00000544508.1_5'UTR	p.L39V	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	358	+			39			Gln/Pro-rich (transactivation domain).		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.115C>G	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677793	0.47886	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	T;T	0.76186	-1.0;-1.0	5.67	5.67	0.87782	.	0.057044	0.64402	D	0.000002	T	0.71117	0.3302	L	0.50333	1.59	0.80722	D	1	P	0.52692	0.955	B	0.43838	0.433	T	0.73777	-0.3876	10	0.51188	T	0.08	-23.2241	13.9864	0.64339	0.0:0.9277:0.0:0.0723	.	39	Q92754	AP2C_HUMAN	V	39;27	ENSP00000201031:L39V;ENSP00000390857:L27V	ENSP00000201031:L39V	L	+	1	0	TFAP2C	54639734	0.637000	0.27216	0.991000	0.47740	0.085000	0.17905	2.711000	0.47177	2.683000	0.91414	0.561000	0.74099	CTC		0.637	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		50	161	0	0	0	1	0	50	161				
TPTE2P6	374491	broad.mit.edu	37	13	25171614	25171614	+	RNA	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr13:25171614T>C	ENST00000453498.1	+	0	1510				TPTE2P6_ENST00000440905.1_RNA																							GAGATACTTTTTGGCGAGAAA	0.393																																						ENST00000453498.1																			0																																																			0							g.chr13:25171614T>C																													13.37:g.25171614T>C														0	1510	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.393	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			39	93	0	0	0	1	0	39	93				
ADAMTS8	11095	broad.mit.edu	37	11	130275913	130275913	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:130275913G>A	ENST00000257359.6	-	9	2916	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCATCAGCCGTCTTCAGCGC	0.567																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(2209-2211)aCg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 8							84.0	85.0	85.0					11																	130275913		2116	4230	6346	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130275913G>A	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2210C>T	11.37:g.130275913G>A	ENSP00000257359:p.Thr737Met						p.T737M	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	9	2916	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	737			Spacer.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.2210C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977704	0.34848	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.53423	0.62	5.35	5.35	0.76521	ADAM-TS Spacer 1 (1);	0.142008	0.64402	D	0.000007	T	0.65657	0.2712	M	0.70275	2.135	0.35731	D	0.817913	P;D	0.71674	0.906;0.998	B;D	0.66716	0.37;0.946	T	0.74349	-0.3694	10	0.54805	T	0.06	.	13.9671	0.64216	0.0:0.0:0.8483:0.1517	.	737;218	Q9UP79;B3KVX9	ATS8_HUMAN;.	M	135;737;766	ENSP00000257359:T737M	ENSP00000257359:T737M	T	-	2	0	ADAMTS8	129781123	1.000000	0.71417	0.943000	0.38184	0.069000	0.16628	4.882000	0.63121	2.499000	0.84300	0.467000	0.42956	ACG		0.567	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		9	223	0	0	0	1	0	9	223				
USP20	10868	broad.mit.edu	37	9	132642504	132642504	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr9:132642504G>T	ENST00000315480.4	+	25	2855	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	USP20_ENST00000372429.3_Missense_Mutation_p.E899D|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.E899D			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	899					endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGGGCCCAGAGAACCTGCACG	0.642																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2695-2697)gaG>gaT		ubiquitin specific peptidase 20							29.0	37.0	35.0					9																	132642504		2049	4190	6239	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132642504G>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2697G>T	9.37:g.132642504G>T	ENSP00000313811:p.Glu899Asp					USP20_ENST00000358355.1_Missense_Mutation_p.E899D|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Missense_Mutation_p.E899D	p.E899D			Q9Y2K6	UBP20_HUMAN			25	2855	+		Ovarian(14;0.00556)	899					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2697G>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	G	0.211	-1.036806	0.02013	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17691	2.26;2.26;2.26	5.11	-1.92	0.07618	.	0.498331	0.24424	N	0.038653	T	0.06872	0.0175	N	0.19112	0.55	0.20196	N	0.999925	B	0.02656	0.0	B	0.04013	0.001	T	0.35301	-0.9794	10	0.12766	T	0.61	.	3.9668	0.09434	0.2071:0.4495:0.2382:0.1052	.	899	Q9Y2K6	UBP20_HUMAN	D	899	ENSP00000361506:E899D;ENSP00000313811:E899D;ENSP00000351122:E899D	ENSP00000313811:E899D	E	+	3	2	USP20	131682325	0.646000	0.27295	0.001000	0.08648	0.006000	0.05464	-0.175000	0.09825	-0.391000	0.07763	0.655000	0.94253	GAG		0.642	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			14	34	1	0	9.31168e-06	1	9.57773e-06	14	34				
ZNF516	9658	broad.mit.edu	37	18	74091249	74091249	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:74091249C>T	ENST00000443185.2	-	4	3138	c.2821G>A	c.(2821-2823)Gcg>Acg	p.A941T	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	941					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAGGGCTGCGCGCCAGCCCGG	0.701																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2821-2823)Gcg>Acg		zinc finger protein 516							17.0	21.0	20.0					18																	74091249		1764	3889	5653	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091249C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2821G>A	18.37:g.74091249C>T	ENSP00000394757:p.Ala941Thr					ZNF516_ENST00000524431.2_5'UTR	p.A941T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3138	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	941						Missense_Mutation	SNP	ENST00000443185.2	37	c.2821G>A		.	.	.	.	.	.	.	.	.	.	C	0.003	-2.446541	0.00178	.	.	ENSG00000101493	ENST00000443185	T	0.09538	2.97	4.13	-8.27	0.01017	.	2.859670	0.00927	N	0.002669	T	0.02649	0.0080	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	9	0.02654	T	1	.	0.6878	0.00886	0.1893:0.2182:0.217:0.3756	.	941	Q92618	ZN516_HUMAN	T	941	ENSP00000394757:A941T	ENSP00000394757:A941T	A	-	1	0	ZNF516	72220237	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.064000	0.00622	-2.124000	0.00822	-0.658000	0.03865	GCG		0.701	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		28	73	0	0	0	1	0	28	73				
AMPD1	270	broad.mit.edu	37	1	115231293	115231293	+	Missense_Mutation	SNP	C	C	T	rs147972392		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:115231293C>T	ENST00000520113.2	-	3	218	c.203G>A	c.(202-204)cGt>cAt	p.R68H	AMPD1_ENST00000353928.6_Missense_Mutation_p.R35H|AMPD1_ENST00000369538.3_Missense_Mutation_p.R64H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	68					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATCTCCTGACGACCTCCTTC	0.423																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(190-192)cGt>cAt		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						147.0	143.0	144.0					1																	115231293		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115231293C>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.203G>A	1.37:g.115231293C>T	ENSP00000430075:p.Arg68His					AMPD1_ENST00000353928.6_Missense_Mutation_p.R35H|AMPD1_ENST00000520113.2_Missense_Mutation_p.R68H	p.R64H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	238	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	35					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.191G>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684674	0.29872	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.45276	0.9;0.9;0.9	5.62	4.7	0.59300	.	0.050211	0.85682	D	0.000000	T	0.13628	0.0330	L	0.38175	1.15	0.37920	D	0.931645	B;B	0.21071	0.04;0.051	B;B	0.15870	0.01;0.014	T	0.08827	-1.0703	10	0.32370	T	0.25	-8.5772	4.5337	0.12017	0.1552:0.5891:0.0:0.2557	.	64;35	Q5TF02;P23109	.;AMPD1_HUMAN	H	68;64;35	ENSP00000430075:R68H;ENSP00000358551:R64H;ENSP00000316520:R35H	ENSP00000316520:R35H	R	-	2	0	AMPD1	115032816	0.631000	0.27164	0.968000	0.41197	0.281000	0.26958	2.985000	0.49362	1.500000	0.48636	0.655000	0.94253	CGT		0.423	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			16	265	0	0	0	1	0	16	265				
NOP16	51491	broad.mit.edu	37	5	175815524	175815524	+	Missense_Mutation	SNP	C	C	T	rs371311461		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:175815524C>T	ENST00000389158.5	-	1	452	c.17G>A	c.(16-18)gGc>gAc	p.G6D	HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D|NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	6						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCGGGTTTTGCCCTTGGCCTT	0.602																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(16-18)gGc>gAc		NOP16 nucleolar protein		C	ASP/GLY	0,4344		0,0,2172	60.0	67.0	65.0		17	5.6	1.0	5		65	1,8577		0,1,4288	no	missense	NOP16	NM_016391.4	94	0,1,6460	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	6/179	175815524	1,12921	2172	4289	6461	SO:0001583	missense	51491					nucleolus		g.chr5:175815524C>T		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.17G>A	5.37:g.175815524C>T	ENSP00000373810:p.Gly6Asp					NOP16_ENST00000509257.1_Missense_Mutation_p.G6D|NOP16_ENST00000507413.1_Missense_Mutation_p.G6D|NOP16_ENST00000510123.1_Missense_Mutation_p.G6D	p.G6D			Q9Y3C1	NOP16_HUMAN			1	452	-			6					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.17G>A	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532671	0.85812	0.0	1.17E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000507413;ENST00000451293;ENST00000509257	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.67050	0.2852	L	0.47716	1.5	0.40902	D	0.984165	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.988;0.999;0.999	T	0.61579	-0.7034	8	0.25751	T	0.34	.	12.1692	0.54148	0.0:0.9225:0.0:0.0775	.	6;6;6;6	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	D	6	.	ENSP00000373810:G6D	G	-	2	0	NOP16	175748130	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	2.518000	0.45537	2.894000	0.99253	0.655000	0.94253	GGC		0.602	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	215	0	0	0	1	0	4	215				
ECE2	9718	broad.mit.edu	37	3	184008969	184008969	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:184008969C>T	ENST00000402825.3	+	17	2330	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	ECE2_ENST00000357474.5_Missense_Mutation_p.T705M|ECE2_ENST00000404464.3_Missense_Mutation_p.T659M|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.T630M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	777	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCGCCAGACGCTGGGGGAG	0.622																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(2329-2331)aCg>aTg		endothelin converting enzyme 2							47.0	53.0	51.0					3																	184008969		2203	4300	6503	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184008969C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2330C>T	3.37:g.184008969C>T	ENSP00000384223:p.Thr777Met					ECE2_ENST00000404464.3_Missense_Mutation_p.T659M|ECE2_ENST00000359140.4_Missense_Mutation_p.T630M|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.T705M	p.T777M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2330	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		777			Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.2330C>T	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378385	0.82682	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	4.94	4.94	0.65067	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.110981	0.64402	D	0.000014	D	0.97682	0.9240	H	0.95780	3.72	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;1.0	D	0.98942	1.0791	10	0.87932	D	0	-11.4334	15.6842	0.77396	0.0:1.0:0.0:0.0	.	379;630;659;705;630;777	B4DHU4;B4DKF3;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	M	777;630;659;705;651	ENSP00000384223:T777M;ENSP00000352052:T630M;ENSP00000385846:T659M;ENSP00000350066:T705M;ENSP00000398444:T651M	ENSP00000350066:T705M	T	+	2	0	ECE2	185491663	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	7.818000	0.86416	2.286000	0.76751	0.561000	0.74099	ACG		0.622	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		41	108	0	0	0	1	0	41	108				
MMP16	4325	broad.mit.edu	37	8	89068438	89068438	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:89068438C>G	ENST00000286614.6	-	8	1572	c.1291G>C	c.(1291-1293)Gga>Cga	p.G431R		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	431					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATTCCACTTCCAAGGGTTATC	0.413																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1291-1293)Gga>Cga		matrix metallopeptidase 16 (membrane-inserted)							104.0	99.0	100.0					8																	89068438		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89068438C>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1291G>C	8.37:g.89068438C>G	ENSP00000286614:p.Gly431Arg						p.G431R	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			8	1572	-			431			Hemopexin-like 2.		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1291G>C	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280354	0.95489	.	.	ENSG00000156103	ENST00000286614	T	0.02323	4.34	5.81	5.81	0.92471	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00579	-1.1661	10	0.72032	D	0.01	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	431	P51512	MMP16_HUMAN	R	431	ENSP00000286614:G431R	ENSP00000286614:G431R	G	-	1	0	MMP16	89137554	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.794000	0.85869	2.746000	0.94184	0.591000	0.81541	GGA		0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		25	208	0	0	0	1	0	25	208				
SELE	6401	broad.mit.edu	37	1	169702103	169702103	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:169702103T>C	ENST00000333360.7	-	3	213	c.74A>G	c.(73-75)aAc>aGc	p.N25S	SELE_ENST00000367779.4_Missense_Mutation_p.N25S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.N25S|SELE_ENST00000367777.1_Missense_Mutation_p.N25S|SELE_ENST00000367782.4_Missense_Mutation_p.N25S|SELE_ENST00000367774.1_Missense_Mutation_p.N25S|SELE_ENST00000367775.1_Missense_Mutation_p.N25S|SELE_ENST00000367780.4_Missense_Mutation_p.N25S|SELE_ENST00000367776.1_Missense_Mutation_p.N25S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	25	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CGTGGAGGTGTTGTAAGACCA	0.418																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(73-75)aAc>aGc		selectin E							108.0	101.0	104.0					1																	169702103		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169702103T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.74A>G	1.37:g.169702103T>C	ENSP00000331736:p.Asn25Ser					SELE_ENST00000367782.4_Missense_Mutation_p.N25S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.N25S|SELE_ENST00000367777.1_Missense_Mutation_p.N25S|SELE_ENST00000367776.1_Missense_Mutation_p.N25S|SELE_ENST00000367781.4_Missense_Mutation_p.N25S|SELE_ENST00000367775.1_Missense_Mutation_p.N25S|SELE_ENST00000367779.4_Missense_Mutation_p.N25S|SELE_ENST00000367774.1_Missense_Mutation_p.N25S	p.N25S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			3	213	-	all_hematologic(923;0.208)		25			C-type lectin.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.74A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854625	0.51376	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	5.58	1.67	0.24075	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.658912	0.13350	N	0.394494	T	0.04543	0.0124	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.39292	-0.9621	10	0.46703	T	0.11	-1.9166	7.5664	0.27881	0.0:0.1472:0.1287:0.724	.	25	P16581	LYAM2_HUMAN	S	25	ENSP00000356755:N25S;ENSP00000356756:N25S;ENSP00000356754:N25S;ENSP00000356753:N25S;ENSP00000331736:N25S;ENSP00000356751:N25S;ENSP00000356749:N25S;ENSP00000356750:N25S;ENSP00000356748:N25S	ENSP00000331736:N25S	N	-	2	0	SELE	167968727	0.000000	0.05858	0.006000	0.13384	0.837000	0.47467	0.292000	0.19011	0.395000	0.25257	0.533000	0.62120	AAC		0.418	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		57	118	0	0	0	1	0	57	118				
BNIP1	662	broad.mit.edu	37	5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	rs148150409	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:172590800G>A	ENST00000351486.5	+	6	594	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000231668.9_Missense_Mutation_p.R231Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	188					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(691-693)cGg>cAg		BCL2/adenovirus E1B 19kDa interacting protein 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	96.0	92.0	94.0		563,461,692,590	5.8	1.0	5	dbSNP_134	94	0,8600		0,0,4300	yes	missense,missense,missense,missense	BNIP1	NM_001205.2,NM_013978.2,NM_013979.2,NM_013980.2	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	188/229,154/195,231/272,197/238	172590800	3,13003	2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590800G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.563G>A	5.37:g.172590800G>A	ENSP00000239215:p.Arg188Gln					BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q	p.R231Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	796	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	188					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.692G>A	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515560	0.85389	6.81E-4	0.0	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.49432	0.78;0.81;0.86;0.78	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;0.999	D;P;P;D	0.67725	0.923;0.886;0.772;0.953	T	0.66324	-0.5952	10	0.38643	T	0.18	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	154;197;188;231	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Q	231;188;197;154	ENSP00000231668:R231Q;ENSP00000239215:R188Q;ENSP00000239214:R197Q;ENSP00000377365:R154Q	ENSP00000231668:R231Q	R	+	2	0	BNIP1	172523406	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.476000	0.97823	2.714000	0.92807	0.650000	0.86243	CGG		0.488	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		4	158	0	0	0	1	0	4	158				
BRCA1	672	broad.mit.edu	37	17	41276094	41276094	+	Missense_Mutation	SNP	C	C	T	rs144792613|rs80359887|rs80359871		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:41276094C>T	ENST00000357654.3	-	2	138	c.20G>A	c.(19-21)cGc>cAc	p.R7H	BRCA1_ENST00000491747.2_Missense_Mutation_p.R7H|BRCA1_ENST00000351666.3_Missense_Mutation_p.R7H|NBR2_ENST00000460115.1_RNA|BRCA1_ENST00000352993.3_Missense_Mutation_p.R7H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.R7H|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.R7H|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.R7H|BRCA1_ENST00000471181.2_Missense_Mutation_p.R7H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	7					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTCAACGCGAAGAGCAGA	0.308			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000357654.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(19-21)cGc>cAc	Homologous recombination	breast cancer 1, early onset		C	HIS/ARG,,HIS/ARG,HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	106.0	93.0	97.0		20,,20,20,20	-5.6	0.0	17	dbSNP_134	97	0,8600		0,0,4300	no	missense,utr-5,missense,missense,missense	BRCA1	NM_007294.3,NM_007297.3,NM_007298.3,NM_007299.3,NM_007300.3	29,,29,29,29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign,benign,benign	7/1864,,7/760,7/700,7/1885	41276094	1,13003	2202	4300	6502	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41276094C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.20G>A	17.37:g.41276094C>T	ENSP00000350283:p.Arg7His	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000352993.3_Missense_Mutation_p.R7H|BRCA1_ENST00000351666.3_Missense_Mutation_p.R7H|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.R7H|BRCA1_ENST00000471181.2_Missense_Mutation_p.R7H|BRCA1_ENST00000354071.3_Missense_Mutation_p.R7H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000346315.3_Missense_Mutation_p.R7H|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R7H	p.R7H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	2	138	-		Breast(137;0.000717)	7					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.20G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	7.749	0.703007	0.15172	2.27E-4	0.0	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000471181;ENST00000491747;ENST00000478531;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	3.83	-5.64	0.02466	.	1.522060	0.04180	N	0.326398	T	0.71676	0.3368	L	0.34521	1.04	0.09310	N	0.999996	B;B;B;B;B;B;B	0.30439	0.007;0.006;0.003;0.009;0.279;0.002;0.002	B;B;B;B;B;B;B	0.11329	0.002;0.001;0.001;0.001;0.006;0.001;0.001	T	0.58411	-0.7641	10	0.36615	T	0.2	0.1663	5.3966	0.16273	0.0:0.2358:0.2788:0.4854	.	7;7;7;7;7;7;7	E7ETR2;E7EMP0;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398	.;.;.;.;.;.;BRCA1_HUMAN	H	7	ENSP00000350283:R7H;ENSP00000326002:R7H;ENSP00000312236:R7H;ENSP00000246907:R7H;ENSP00000338007:R7H;ENSP00000417148:R7H;ENSP00000418960:R7H;ENSP00000420705:R7H;ENSP00000420412:R7H;ENSP00000419274:R7H;ENSP00000419988:R7H;ENSP00000419103:R7H;ENSP00000417554:R7H;ENSP00000420781:R7H	ENSP00000246907:R7H	R	-	2	0	BRCA1	38529620	0.000000	0.05858	0.000000	0.03702	0.769000	0.43574	-2.998000	0.00654	-0.638000	0.05509	-0.693000	0.03709	CGC		0.308	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		26	70	0	0	0	1	0	26	70				
ST18	9705	broad.mit.edu	37	8	53092709	53092709	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:53092709A>T	ENST00000276480.7	-	9	933	c.250T>A	c.(250-252)Ttg>Atg	p.L84M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	84					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGTTTCCAAGGGGCCATCG	0.522																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(250-252)Ttg>Atg		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							300.0	241.0	261.0					8																	53092709		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53092709A>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.250T>A	8.37:g.53092709A>T	ENSP00000276480:p.Leu84Met						p.L84M	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			9	933	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	84					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.250T>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425760	0.43020	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.47869	0.86;0.83	5.44	-9.58	0.00559	.	2.050380	0.02158	N	0.058532	T	0.36413	0.0966	M	0.62723	1.935	0.09310	N	1	B	0.34103	0.437	B	0.31495	0.131	T	0.28396	-1.0045	10	0.46703	T	0.11	3.4122	3.4765	0.07586	0.295:0.283:0.3355:0.0864	.	84	O60284	ST18_HUMAN	M	84	ENSP00000276480:L84M;ENSP00000428521:L84M	ENSP00000276480:L84M	L	-	1	2	ST18	53255262	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.112000	0.15479	-2.196000	0.00751	-1.258000	0.01471	TTG		0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			121	244	0	0	0	1	0	121	244				
RTBDN	83546	broad.mit.edu	37	19	12936718	12936718	+	Silent	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:12936718G>T	ENST00000458671.2	-	6	644	c.492C>A	c.(490-492)cgC>cgA	p.R164R	CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Silent_p.R174R|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000322912.5_Silent_p.R196R	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	164						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCAGAGCCGAGCGACAAAGGT	0.652											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322912.5																			0				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(586-588)cgC>cgA		retbindin							25.0	23.0	24.0					19																	12936718		2200	4300	6500	SO:0001819	synonymous_variant	83546					extracellular region		g.chr19:12936718G>T	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.492C>A	19.37:g.12936718G>T			OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000458671.2_Silent_p.R164R|RTBDN_ENST00000592204.1_Silent_p.R174R|RTBDN_ENST00000589272.1_3'UTR	p.R196R	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN			7	905	-			164					F1T0I8|Q9BWT5	Silent	SNP	ENST00000458671.2	37	c.588C>A	CCDS45994.1																																																																																				0.652	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		4	78	1	0	0.000602214	1	0.000613577	4	78				
ZNF14	7561	broad.mit.edu	37	19	19823828	19823828	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:19823828G>A	ENST00000344099.3	-	4	400	c.262C>T	c.(262-264)Cca>Tca	p.P88S		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTAACATTTGGCATCTGGCTA	0.378																																						ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(262-264)Cca>Tca		zinc finger protein 14							129.0	120.0	123.0					19																	19823828		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823828G>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.262C>T	19.37:g.19823828G>A	ENSP00000340514:p.Pro88Ser						p.P88S	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	400	-		Renal(1328;0.0474)	88					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.262C>T	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.190607	0.01607	.	.	ENSG00000105708	ENST00000344099	T	0.11712	2.75	1.4	0.297	0.15762	.	.	.	.	.	T	0.02807	0.0084	N	0.02120	-0.675	0.09310	N	1	P	0.35348	0.496	B	0.37267	0.245	T	0.34054	-0.9844	9	0.02654	T	1	.	3.1469	0.06474	0.3098:0.0:0.6902:0.0	.	88	P17017	ZNF14_HUMAN	S	88	ENSP00000340514:P88S	ENSP00000340514:P88S	P	-	1	0	ZNF14	19684828	0.000000	0.05858	0.008000	0.14137	0.105000	0.19272	-0.790000	0.04604	0.731000	0.32448	0.460000	0.39030	CCA		0.378	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		10	319	0	0	0	1	0	10	319				
PRPSAP2	5636	broad.mit.edu	37	17	18781090	18781090	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:18781090G>A	ENST00000268835.2	+	6	602	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.V21M|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.V107M|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.V67M	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	107					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCATTGGCGTGATACCCTA	0.458																																						ENST00000268835.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(319-321)Gtg>Atg		phosphoribosyl pyrophosphate synthetase-associated protein 2							223.0	182.0	196.0					17																	18781090		2203	4300	6503	SO:0001583	missense	5636				nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:18781090G>A	AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.319G>A	17.37:g.18781090G>A	ENSP00000268835:p.Val107Met					PRPSAP2_ENST00000419071.2_Missense_Mutation_p.V67M|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.V107M|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.V21M	p.V107M	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN			6	602	+			107					B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	ENST00000268835.2	37	c.319G>A	CCDS11200.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034770	0.75617	.	.	ENSG00000141127	ENST00000441887;ENST00000395656;ENST00000414602;ENST00000419071;ENST00000432893;ENST00000455992;ENST00000412418;ENST00000419284;ENST00000268835;ENST00000536323;ENST00000422237;ENST00000542013	D;D;D;D;D;D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	4.57	4.57	0.56435	.	0.067406	0.64402	D	0.000012	D	0.98751	0.9580	H	0.98370	4.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.991	D	0.99768	1.1023	10	0.87932	D	0	-1.6231	17.7152	0.88335	0.0:0.0:1.0:0.0	.	107;67;107	B7ZKZ1;E7EMY2;O60256	.;.;KPRB_HUMAN	M	107;107;107;67;107;107;107;107;107;21;107;107	ENSP00000395127:V107M;ENSP00000416964:V107M;ENSP00000392536:V67M;ENSP00000399625:V107M;ENSP00000416021:V107M;ENSP00000402612:V107M;ENSP00000415446:V107M;ENSP00000268835:V107M;ENSP00000443967:V21M;ENSP00000401144:V107M;ENSP00000439129:V107M	ENSP00000268835:V107M	V	+	1	0	PRPSAP2	18721815	1.000000	0.71417	0.940000	0.37924	0.475000	0.33008	9.813000	0.99286	2.250000	0.74265	0.467000	0.42956	GTG		0.458	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132112.3	NM_002767		55	165	0	0	0	1	0	55	165				
KIAA1549	57670	broad.mit.edu	37	7	138589815	138589815	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:138589815G>A	ENST00000422774.1	-	7	3521	c.3473C>T	c.(3472-3474)cCa>cTa	p.P1158L	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1108L|KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1158L			Q9HCM3	K1549_HUMAN	KIAA1549	1158						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTTGAGCTGTGGATACTGGAA	0.383			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3472-3474)cCa>cTa		KIAA1549							65.0	59.0	61.0					7																	138589815		1830	4082	5912	SO:0001583	missense	57670					integral to membrane		g.chr7:138589815G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3473C>T	7.37:g.138589815G>A	ENSP00000416040:p.Pro1158Leu					KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1108L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1158L	p.P1158L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			7	3521	-			1158					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3473C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705855	0.89018	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.36699	1.24;1.25;1.24	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67252	-0.5717	10	0.87932	D	0	.	17.5308	0.87814	0.0:0.0:1.0:0.0	.	1158;1158	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	1158;1108;1158	ENSP00000406661:P1158L;ENSP00000242365:P1108L;ENSP00000416040:P1158L	ENSP00000242365:P1108L	P	-	2	0	KIAA1549	138240355	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.342000	0.79310	2.611000	0.88343	0.655000	0.94253	CCA		0.383	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			6	18	0	0	0	1	0	6	18				
ALDH16A1	126133	broad.mit.edu	37	19	49967201	49967201	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:49967201G>A	ENST00000293350.4	+	9	1352	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.G32D|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V346M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V234M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V232M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	397						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGTGCCCAGGTGGAGGTGAG	0.627																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1189-1191)Gtg>Atg		aldehyde dehydrogenase 16 family, member A1							146.0	146.0	146.0					19																	49967201		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49967201G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1189G>A	19.37:g.49967201G>A	ENSP00000293350:p.Val397Met					ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V346M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V232M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V234M|CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.G32D	p.V397M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	9	1352	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	397					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1189G>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.208914	0.22205	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.16	-0.607	0.11615	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	1.362850	0.04119	N	0.316031	T	0.67618	0.2912	L	0.38175	1.15	0.09310	N	1	B;P;P	0.34815	0.415;0.47;0.47	B;B;B	0.38428	0.179;0.273;0.273	T	0.60576	-0.7236	10	0.87932	D	0	-12.3929	7.5802	0.27961	0.4512:0.0:0.5488:0.0	.	234;346;397	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	M	397;346;234;232	ENSP00000293350:V397M;ENSP00000410142:V346M;ENSP00000445088:V234M;ENSP00000398675:V232M	ENSP00000293350:V397M	V	+	1	0	ALDH16A1	54659013	0.416000	0.25424	0.502000	0.27614	0.177000	0.22998	0.449000	0.21744	0.213000	0.20722	0.484000	0.47621	GTG		0.627	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		78	336	0	0	0	1	0	78	336				
LECT2	3950	broad.mit.edu	37	5	135288604	135288604	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:135288604G>A	ENST00000274507.1	-	2	299	c.99C>T	c.(97-99)atC>atT	p.I33I	LECT2_ENST00000471827.1_5'UTR|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000514447.2_Silent_p.I33I|LECT2_ENST00000522943.1_Silent_p.I33I	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	33					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)			large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACACGTCCGGATCTCATTGG	0.512																																						ENST00000274507.1																			0				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(97-99)atC>atT		leukocyte cell-derived chemotaxin 2							185.0	173.0	177.0					5																	135288604		2203	4300	6503	SO:0001819	synonymous_variant	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135288604G>A	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.99C>T	5.37:g.135288604G>A						LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000522943.1_Silent_p.I33I|LECT2_ENST00000514447.2_Silent_p.I33I|LECT2_ENST00000471827.1_5'UTR	p.I33I	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	299	-			33					B2RA90|O14565|Q52M49	Silent	SNP	ENST00000274507.1	37	c.99C>T	CCDS4190.1																																																																																				0.512	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		25	290	0	0	0	1	0	25	290				
DOPEY2	9980	broad.mit.edu	37	21	37617841	37617841	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:37617841C>T	ENST00000399151.3	+	19	3648	c.3563C>T	c.(3562-3564)gCt>gTt	p.A1188V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1188					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGACGCAGGCTTCTGAGTCG	0.637																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3562-3564)gCt>gTt		dopey family member 2							39.0	40.0	40.0					21																	37617841		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617841C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3563C>T	21.37:g.37617841C>T	ENSP00000382104:p.Ala1188Val						p.A1188V	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3648	+			1188					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3563C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151265	0.57151	.	.	ENSG00000142197	ENST00000399151	T	0.33438	1.41	5.15	5.15	0.70609	.	0.050906	0.85682	D	0.000000	T	0.36054	0.0953	L	0.47716	1.5	0.47245	D	0.999365	P;P	0.41313	0.745;0.629	B;B	0.43052	0.406;0.23	T	0.12372	-1.0550	10	0.51188	T	0.08	-22.3722	18.9877	0.92779	0.0:1.0:0.0:0.0	.	1188;1188	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	1188	ENSP00000382104:A1188V	ENSP00000382104:A1188V	A	+	2	0	DOPEY2	36539711	1.000000	0.71417	0.961000	0.40146	0.977000	0.68977	4.500000	0.60387	2.580000	0.87095	0.655000	0.94253	GCT		0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		30	98	0	0	0	1	0	30	98				
PEX14	5195	broad.mit.edu	37	1	10689808	10689808	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:10689808G>C	ENST00000356607.4	+	9	978	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E236Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	300					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGAAGGCGAGGGGGTGGT	0.652																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(898-900)Gag>Cag		peroxisomal biogenesis factor 14							136.0	125.0	129.0					1																	10689808		2191	4288	6479	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689808G>C	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.898G>C	1.37:g.10689808G>C	ENSP00000349016:p.Glu300Gln					PEX14_ENST00000538836.1_Missense_Mutation_p.E236Q	p.E300Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	978	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	300					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.898G>C	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156465	0.21454	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.23950	1.89;1.88	4.7	3.78	0.43462	.	0.554792	0.19724	N	0.107512	T	0.18257	0.0438	L	0.43152	1.355	0.24581	N	0.993876	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.17961	-1.0352	10	0.23302	T	0.38	.	5.5007	0.16827	0.0784:0.1483:0.6337:0.1396	.	257;300	O75381-2;O75381	.;PEX14_HUMAN	Q	300;236	ENSP00000349016:E300Q;ENSP00000444877:E236Q	ENSP00000349016:E300Q	E	+	1	0	PEX14	10612395	0.442000	0.25633	0.958000	0.39756	0.870000	0.49936	0.794000	0.26958	1.084000	0.41184	0.563000	0.77884	GAG		0.652	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			3	17	0	0	0	1	0	3	17				
FUS	2521	broad.mit.edu	37	16	31195601	31195601	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:31195601A>G	ENST00000254108.7	+	5	512	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	FUS_ENST00000568685.1_Missense_Mutation_p.Y136C|FUS_ENST00000380244.3_Missense_Mutation_p.Y135C|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	136	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGCCTAGCTATGGTGGACAG	0.522			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7				Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(406-408)tAt>tGt		fused in sarcoma							132.0	121.0	125.0					16																	31195601		2197	4300	6497	SO:0001583	missense	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31195601A>G	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.407A>G	16.37:g.31195601A>G	ENSP00000254108:p.Tyr136Cys					FUS_ENST00000568685.1_Missense_Mutation_p.Y136C|FUS_ENST00000380244.3_Missense_Mutation_p.Y135C	p.Y136C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	5	512	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	136			Gln/Gly/Ser/Tyr-rich.		Q9H4A8	Missense_Mutation	SNP	ENST00000254108.7	37	c.407A>G	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135142	0.37728	.	.	ENSG00000089280	ENST00000254108;ENST00000394533	D	0.98419	-4.92	5.81	5.81	0.92471	.	0.154659	0.44097	D	0.000496	D	0.98748	0.9579	M	0.78456	2.415	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.98;0.991;0.98;0.986	D	0.99327	1.0908	10	0.40728	T	0.16	-5.1326	15.1598	0.72775	1.0:0.0:0.0:0.0	.	136;135;136;136	Q6IBQ5;P35637-2;P35637;E7EUX0	.;.;FUS_HUMAN;.	C	136	ENSP00000254108:Y136C	ENSP00000254108:Y136C	Y	+	2	0	FUS	31103102	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.901000	0.56303	2.217000	0.71921	0.482000	0.46254	TAT		0.522	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		60	190	0	0	0	1	0	60	190				
CDH23	64072	broad.mit.edu	37	10	73563115	73563115	+	Missense_Mutation	SNP	G	G	A	rs560143693		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:73563115G>A	ENST00000224721.6	+	54	7830	c.7825G>A	c.(7825-7827)Gtc>Atc	p.V2609I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V364I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2604	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTCATCGACGTCAATGACAA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16138	0.0		0.0	False		,,,				2504	0.001					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7825-7827)Gtc>Atc		cadherin-related 23							34.0	39.0	38.0					10																	73563115		2070	4201	6271	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73563115G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7825G>A	10.37:g.73563115G>A	ENSP00000224721:p.Val2609Ile					CDH23_ENST00000398788.3_Missense_Mutation_p.V364I|CDH23_ENST00000475158.1_3'UTR	p.V2609I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			54	7830	+			2604			Cadherin 24.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7825G>A		.	.	.	.	.	.	.	.	.	.	G	13.20	2.166271	0.38217	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.01388	4.95	5.02	3.13	0.36017	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.075211	0.53938	D	0.000051	T	0.01353	0.0044	L	0.43152	1.355	0.47407	D	0.999413	B;B	0.24092	0.097;0.097	B;B	0.18263	0.021;0.021	T	0.57370	-0.7823	10	0.20046	T	0.44	.	5.3019	0.15783	0.2099:0.0:0.6301:0.16	.	2604;2604	E9PEX1;Q9H251	.;CAD23_HUMAN	I	2609;2604;2607;364	ENSP00000381768:V364I	ENSP00000224721:V2609I	V	+	1	0	CDH23	73233121	1.000000	0.71417	0.995000	0.50966	0.852000	0.48524	7.610000	0.82949	0.610000	0.30035	-0.332000	0.08345	GTC		0.607	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		6	10	0	0	0	1	0	6	10				
RTP1	132112	broad.mit.edu	37	3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T	rs372732386		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:186917604C>T	ENST00000312295.4	+	2	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(538-540)Cgc>Tgc		receptor (chemosensory) transporter protein 1		C	CYS/ARG	0,4400		0,0,2200	24.0	25.0	25.0		538	4.8	1.0	3		25	1,8583		0,1,4291	no	missense	RTP1	NM_153708.2	180	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	180/264	186917604	1,12983	2200	4292	6492	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917604C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.538C>T	3.37:g.186917604C>T	ENSP00000311712:p.Arg180Cys					RP11-208N14.4_ENST00000356133.3_RNA	p.R180C	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	568	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		180						Missense_Mutation	SNP	ENST00000312295.4	37	c.538C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746024	0.69418	0.0	1.16E-4	ENSG00000175077	ENST00000312295	T	0.23950	1.88	5.7	4.82	0.62117	.	0.381494	0.30649	N	0.009169	T	0.33731	0.0873	L	0.44542	1.39	0.39746	D	0.97181	D	0.61697	0.99	P	0.54060	0.741	T	0.12192	-1.0557	10	0.52906	T	0.07	.	12.2521	0.54603	0.1691:0.8309:0.0:0.0	.	180	P59025	RTP1_HUMAN	C	180	ENSP00000311712:R180C	ENSP00000311712:R180C	R	+	1	0	RTP1	188400298	0.604000	0.26932	1.000000	0.80357	0.963000	0.63663	0.710000	0.25748	1.403000	0.46800	0.561000	0.74099	CGC		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		25	51	0	0	0	1	0	25	51				
EFCAB13	124989	broad.mit.edu	37	17	45452306	45452306	+	Missense_Mutation	SNP	C	C	T	rs144496511		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:45452306C>T	ENST00000331493.2	+	12	1757	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	EFCAB13_ENST00000517484.1_Missense_Mutation_p.T353M	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	449						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.T449M(1)									GTTTCGTCTACGGAAAAAACT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		16716	0.001		0.0	False		,,,				2504	0.0					ENST00000331493.2																			1	Substitution - Missense(1)	p.T449M(1)	lung(1)								c.(1345-1347)aCg>aTg		EF-hand calcium binding domain 13							41.0	41.0	41.0					17																	45452306		2203	4300	6503	SO:0001583	missense	124989							g.chr17:45452306C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1346C>T	17.37:g.45452306C>T	ENSP00000332111:p.Thr449Met					EFCAB13_ENST00000517484.1_Missense_Mutation_p.T353M	p.T449M	NM_152347.4	NP_689560.3					12	1757	+								G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1346C>T	CCDS11512.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	7.202	0.593759	0.13875	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.66099	0.19;-0.19	3.56	0.00927	0.14078	.	1.291600	0.05091	N	0.485211	T	0.28665	0.0710	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.29862	0.003;0.259;0.007	B;B;B	0.14578	0.001;0.011;0.003	T	0.11155	-1.0599	9	.	.	.	-3.0787	4.0261	0.09688	0.4444:0.195:0.0:0.3605	.	401;449;353	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	M	449;353;401	ENSP00000332111:T449M;ENSP00000430048:T353M	.	T	+	2	0	C17orf57	42807305	0.917000	0.31117	0.103000	0.21229	0.041000	0.13682	1.059000	0.30517	-0.044000	0.13491	-1.522000	0.00932	ACG		0.358	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		6	114	0	0	0	1	0	6	114				
MTMR1	8776	broad.mit.edu	37	X	149898642	149898642	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:149898642A>G	ENST00000370390.3	+	6	750	c.593A>G	c.(592-594)gAa>gGa	p.E198G	MTMR1_ENST00000538506.1_Missense_Mutation_p.E85G|MTMR1_ENST00000445323.2_Missense_Mutation_p.E206G|MTMR1_ENST00000544228.1_Missense_Mutation_p.E198G|MTMR1_ENST00000542156.1_Missense_Mutation_p.E198G|MTMR1_ENST00000541925.1_Missense_Mutation_p.E104G|MTMR1_ENST00000451863.2_Missense_Mutation_p.E198G	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	198					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATATTTGAAAACCTCAAC	0.378																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(616-618)gAa>gGa		myotubularin related protein 1							127.0	113.0	118.0					X																	149898642		2203	4300	6503	SO:0001583	missense	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149898642A>G	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.593A>G	X.37:g.149898642A>G	ENSP00000359417:p.Glu198Gly					MTMR1_ENST00000542156.1_Missense_Mutation_p.E198G|MTMR1_ENST00000544228.1_Missense_Mutation_p.E198G|MTMR1_ENST00000370390.3_Missense_Mutation_p.E198G|MTMR1_ENST00000541925.1_Missense_Mutation_p.E104G|MTMR1_ENST00000451863.2_Missense_Mutation_p.E198G|MTMR1_ENST00000538506.1_Missense_Mutation_p.E85G	p.E206G			Q13613	MTMR1_HUMAN			7	738	+	Acute lymphoblastic leukemia(192;6.56e-05)		198					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	c.617A>G	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510815	0.64522	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.14	5.14	0.70334	.	0.099244	0.64402	D	0.000002	D	0.89646	0.6775	M	0.88105	2.93	0.80722	D	1	D;B;D	0.55385	0.96;0.141;0.971	P;B;P	0.53360	0.677;0.069;0.724	D	0.91416	0.5155	10	0.62326	D	0.03	.	14.3226	0.66496	1.0:0.0:0.0:0.0	.	198;206;198	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	G	104;104;198;198;206;198;198;85	ENSP00000441879:E104G;ENSP00000431992:E104G;ENSP00000445281:E198G;ENSP00000359417:E198G;ENSP00000414178:E206G;ENSP00000440534:E198G;ENSP00000387446:E198G;ENSP00000443444:E85G	ENSP00000359417:E198G	E	+	2	0	MTMR1	149649300	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	9.032000	0.93736	1.830000	0.53286	0.486000	0.48141	GAA		0.378	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		53	49	0	0	0	1	0	53	49				
COL7A1	1294	broad.mit.edu	37	3	48619007	48619007	+	Splice_Site	SNP	C	C	T	rs149869536		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:48619007C>T	ENST00000328333.8	-	49	4888	c.4781G>A	c.(4780-4782)cGg>cAg	p.R1594Q	COL7A1_ENST00000454817.1_Splice_Site_p.R1594Q|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1594	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGATTCACCCGGTCTCCAGG	0.592																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.e49+1		collagen, type VII, alpha 1		C	GLN/ARG	0,4406		0,0,2203	100.0	105.0	103.0		4781	2.4	0.3	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	COL7A1	NM_000094.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1594/2945	48619007	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48619007C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4782+1G>A	3.37:g.48619007C>T						COL7A1_ENST00000454817.1_Splice_Site_p.R1594_splice	p.R1594_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	49	4888	-			1594			Triple-helical region.		Q14054|Q16507	Splice_Site	SNP	ENST00000328333.8	37	c.4782_splice	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848113	0.32699	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94184	-3.37;-3.37	5.25	2.39	0.29439	.	0.000000	0.42548	D	0.000689	D	0.85371	0.5681	N	0.20445	0.575	0.09310	N	1	P	0.46706	0.883	B	0.42138	0.377	T	0.77576	-0.2536	10	0.37606	T	0.19	.	6.4264	0.21772	0.0:0.6888:0.1483:0.1628	.	1594	Q02388	CO7A1_HUMAN	Q	1594	ENSP00000332371:R1594Q;ENSP00000412569:R1594Q	ENSP00000332371:R1594Q	R	-	2	0	COL7A1	48594011	0.837000	0.29446	0.252000	0.24328	0.128000	0.20619	1.957000	0.40392	0.609000	0.30018	-0.148000	0.13756	CGG		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	4	139	0	0	0	1	0	4	139				
TSPAN5	10098	broad.mit.edu	37	4	99399849	99399849	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:99399849G>C	ENST00000305798.3	-	5	965	c.563C>G	c.(562-564)aCt>aGt	p.T188S	TSPAN5_ENST00000509168.1_5'Flank|TSPAN5_ENST00000505184.1_Missense_Mutation_p.T117S	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	188					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GGGATCTTTAGTGCAGCAGGA	0.468																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(562-564)aCt>aGt		tetraspanin 5							128.0	116.0	120.0					4																	99399849		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99399849G>C		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.563C>G	4.37:g.99399849G>C	ENSP00000307701:p.Thr188Ser					TSPAN5_ENST00000505184.1_Missense_Mutation_p.T117S	p.T188S	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	5	965	-			188					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.563C>G	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180489	0.57800	.	.	ENSG00000168785	ENST00000305798;ENST00000505184	D;D	0.86497	-2.13;-2.13	5.13	5.13	0.70059	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	N	0.16656	0.425	0.80722	D	1	B	0.14012	0.009	B	0.19666	0.026	T	0.73225	-0.4050	10	0.22706	T	0.39	.	18.6095	0.91279	0.0:0.0:1.0:0.0	.	188	P62079	TSN5_HUMAN	S	188;117	ENSP00000307701:T188S;ENSP00000423916:T117S	ENSP00000307701:T188S	T	-	2	0	TSPAN5	99618872	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.868000	0.87116	2.387000	0.81309	0.555000	0.69702	ACT		0.468	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		62	146	0	0	0	1	0	62	146				
PLA2G12B	84647	broad.mit.edu	37	10	74701027	74701027	+	Silent	SNP	G	G	A	rs141448551		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:74701027G>A	ENST00000373032.3	-	3	458	c.366C>T	c.(364-366)tgC>tgT	p.C122C		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	122					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TGTTGGCACCGCAAGTGTCAT	0.493																																						ENST00000373032.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9						c.(364-366)tgC>tgT		phospholipase A2, group XIIB		G		0,4406		0,0,2203	217.0	203.0	208.0		366	-11.0	0.1	10	dbSNP_134	208	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLA2G12B	NM_032562.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		122/196	74701027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84647				lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr10:74701027G>A	AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.366C>T	10.37:g.74701027G>A							p.C122C	NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN			3	458	-	Prostate(51;0.0198)		122					B7ZL23|Q52LB2|Q96Q99	Silent	SNP	ENST00000373032.3	37	c.366C>T	CCDS7319.1																																																																																				0.493	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048598.1	NM_032562		4	247	0	0	0	1	0	4	247				
HERC2P3	283755	broad.mit.edu	37	15	20657769	20657769	+	RNA	SNP	T	T	A	rs371607072		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:20657769T>A	ENST00000428453.1	-	0	2189							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGTCCCGATGGGTTCTCAT	0.532																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															97.0	89.0	92.0					15																	20657769		2172	4236	6408			0							g.chr15:20657769T>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657769T>A														0	2189	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.532	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		15	128	0	0	0	1	0	15	128				
RASAL1	8437	broad.mit.edu	37	12	113552605	113552605	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:113552605C>T	ENST00000261729.5	-	13	1496	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	RASAL1_ENST00000548055.1_Splice_Site_p.R394Q|RASAL1_ENST00000546530.1_Splice_Site_p.R394Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Splice_Site_p.R394Q			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	394	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTTTGCTCACCGGGTGCGGCC	0.622																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.e13+1		RAS protein activator like 1 (GAP1 like)							219.0	222.0	221.0					12																	113552605		2203	4300	6503	SO:0001630	splice_region_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113552605C>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1181+1G>A	12.37:g.113552605C>T						RASAL1_ENST00000548055.1_Splice_Site_p.R394_splice|RASAL1_ENST00000446861.3_Splice_Site_p.R394_splice|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Splice_Site_p.R394_splice	p.R394_splice	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			13	1466	-			394			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Splice_Site	SNP	ENST00000261729.5	37	c.1181_splice	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120165	0.77323	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.43	4.43	0.53597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.68593	2.085	0.48511	D	0.999662	D;D;D;D;P;P;D	0.76494	0.999;0.999;0.998;0.999;0.794;0.828;0.998	D;D;P;D;B;P;P	0.63877	0.919;0.919;0.867;0.919;0.373;0.507;0.867	D	0.85711	0.1319	9	.	.	.	.	15.8036	0.78473	0.0:1.0:0.0:0.0	.	394;394;394;406;394;394;394	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	Q	394	ENSP00000450244:R394Q;ENSP00000261729:R394Q;ENSP00000395920:R394Q;ENSP00000448510:R394Q	.	R	-	2	0	RASAL1	112036988	1.000000	0.71417	0.951000	0.38953	0.876000	0.50452	5.349000	0.66010	2.014000	0.59158	0.313000	0.20887	CGG		0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	Missense_Mutation	161	484	0	0	0	1	0	161	484				
HNF1A	6927	broad.mit.edu	37	12	121432064	121432064	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:121432064C>T	ENST00000257555.6	+	4	1037	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HNF1A_ENST00000543427.1_Missense_Mutation_p.R154W|HNF1A_ENST00000402929.1_Missense_Mutation_p.R271W|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271W|HNF1A_ENST00000400024.2_Missense_Mutation_p.R271W|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271W			P20823	HNF1A_HUMAN	HNF1 homeobox A	271	Interaction with DNA.		R -> W (in MODY3). {ECO:0000269|PubMed:9754819}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K273fs*41(1)|p.R271W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTTGCCAACCGGCGCAAAGA	0.667									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.K273fs*41(1)|p.R271W(1)	liver(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CD064654|CM021357|CM981901	HNF1A	D|M		c.(811-813)Cgg>Tgg		HNF1 homeobox A							40.0	38.0	39.0					12																	121432064		2203	4300	6503	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121432064C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.811C>T	12.37:g.121432064C>T	ENSP00000257555:p.Arg271Trp					HNF1A_ENST00000402929.1_Missense_Mutation_p.R271W|HNF1A_ENST00000400024.2_Missense_Mutation_p.R271W|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271W|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271W|HNF1A_ENST00000543427.1_Missense_Mutation_p.R154W|HNF1A_ENST00000538626.1_Intron	p.R271W			P20823	HNF1A_HUMAN			4	1037	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		271		R -> W (in MODY3).	Interaction with DNA.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.811C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854360	0.71719	.	.	ENSG00000135100	ENST00000257555;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	4.84	3.94	0.45596	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000012	D	0.97939	0.9322	M	0.75264	2.295	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.994;0.984	D	0.98072	1.0399	10	0.72032	D	0.01	-44.5159	11.5717	0.50836	0.3248:0.6752:0.0:0.0	.	271;271;271;271	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	W	271;271;271;271;154;271;271;271;271;271	ENSP00000257555:R271W;ENSP00000439721:R154W;ENSP00000443112:R271W;ENSP00000438804:R271W	ENSP00000257555:R271W	R	+	1	2	HNF1A	119916447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.765000	0.47621	1.026000	0.39733	0.409000	0.27619	CGG		0.667	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		14	31	0	0	0	1	0	14	31				
LIPI	149998	broad.mit.edu	37	21	15517083	15517083	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:15517083T>C	ENST00000536861.1	-	9	1155	c.1156A>G	c.(1156-1158)Att>Gtt	p.I386V	LIPI_ENST00000344577.2_Missense_Mutation_p.I407V|AP001347.6_ENST00000428809.1_RNA|AP001347.6_ENST00000432621.1_RNA			Q6XZB0	LIPI_HUMAN	lipase, member I	386					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGCAAGAATCTTGACTTCT	0.294																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(1219-1221)Att>Gtt		lipase, member I							48.0	52.0	51.0					21																	15517083		2202	4294	6496	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15517083T>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1156A>G	21.37:g.15517083T>C	ENSP00000440381:p.Ile386Val					LIPI_ENST00000536861.1_Missense_Mutation_p.I386V	p.I407V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	9	1244	-			386					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.1219A>G		.	.	.	.	.	.	.	.	.	.	T	12.94	2.089152	0.36855	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.87966	-2.32;-2.31	5.34	2.79	0.32731	.	0.447943	0.24537	N	0.037670	T	0.79964	0.4537	L	0.59436	1.845	0.19945	N	0.999946	B	0.32338	0.365	B	0.31495	0.131	T	0.64266	-0.6448	10	0.20519	T	0.43	.	4.2744	0.10802	0.1761:0.0947:0.0:0.7293	.	407	Q6XZB0-2	.	V	407;386	ENSP00000343331:I407V;ENSP00000440381:I386V	ENSP00000343331:I407V	I	-	1	0	LIPI	14438954	0.964000	0.33143	1.000000	0.80357	0.945000	0.59286	0.375000	0.20518	0.961000	0.38030	0.528000	0.53228	ATT		0.294	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		107	121	0	0	0	1	0	107	121				
RNF103	7844	broad.mit.edu	37	2	86831482	86831482	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:86831482C>A	ENST00000237455.4	-	4	2510	c.1542G>T	c.(1540-1542)atG>atT	p.M514I	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'Flank|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	514					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TAAATCGCCACATTGGTAAGT	0.433																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(1540-1542)atG>atT		ring finger protein 103							131.0	139.0	136.0					2																	86831482		2203	4299	6502	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831482C>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1542G>T	2.37:g.86831482C>A	ENSP00000237455:p.Met514Ile					AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron	p.M514I	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2510	-			514					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.1542G>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	9.904	1.207718	0.22205	.	.	ENSG00000239305	ENST00000237455	T	0.39787	1.06	5.84	4.02	0.46733	.	0.262799	0.46145	N	0.000308	T	0.24198	0.0586	N	0.14661	0.345	0.30849	N	0.734809	B	0.02656	0.0	B	0.01281	0.0	T	0.12528	-1.0544	10	0.40728	T;T	0.16;0.16	-2.0841	8.1604	0.31196	0.0:0.7328:0.1304:0.1368	.	514	O00237	RN103_HUMAN	I	514	ENSP00000237455:M514I	ENSP00000237455:M514I;ENSP00000237455:M514I	M	-	3	0	RNF103	86684993	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.615000	0.36922	0.796000	0.33947	0.460000	0.39030	ATG		0.433	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		134	344	1	0	2.31934e-59	1	2.48009e-59	134	344				
SLC4A11	83959	broad.mit.edu	37	20	3210080	3210080	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:3210080G>A	ENST00000380056.3	-	14	1856	c.1809C>T	c.(1807-1809)tgC>tgT	p.C603C	SLC4A11_ENST00000539553.2_Silent_p.C587C|SLC4A11_ENST00000380059.3_Silent_p.C630C|SLC4A11_ENST00000488544.1_5'UTR	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	603	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCTCGCACGCAGGGGTGCA	0.647																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1888-1890)tgC>tgT		solute carrier family 4, sodium borate transporter, member 11							60.0	56.0	57.0					20																	3210080		2203	4299	6502	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3210080G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1809C>T	20.37:g.3210080G>A						SLC4A11_ENST00000539553.1_Silent_p.C587C|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.C603C	p.C630C	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			15	1991	-			603			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1890C>T	CCDS13052.1																																																																																				0.647	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			4	151	0	0	0	1	0	4	151				
TNFRSF11B	4982	broad.mit.edu	37	8	119945527	119945527	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:119945527A>C	ENST00000297350.4	-	2	421	c.43T>G	c.(43-45)Tcc>Gcc	p.S15A		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	15					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTTAATGGAGATGTCCAGA	0.423																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(43-45)Tcc>Gcc		tumor necrosis factor receptor superfamily, member 11b							146.0	143.0	144.0					8																	119945527		2203	4300	6503	SO:0001583	missense	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945527A>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.43T>G	8.37:g.119945527A>C	ENSP00000297350:p.Ser15Ala						p.S15A	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	421	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		15					B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	ENST00000297350.4	37	c.43T>G	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636727	0.47049	.	.	ENSG00000164761	ENST00000297350	T	0.74526	-0.85	5.8	4.63	0.57726	.	0.265143	0.44902	D	0.000406	T	0.68851	0.3046	L	0.59436	1.845	0.23988	N	0.996255	B	0.15141	0.012	B	0.12156	0.007	T	0.56329	-0.7997	9	.	.	.	-22.315	11.8513	0.52413	0.8538:0.1462:0.0:0.0	.	15	O00300	TR11B_HUMAN	A	15	ENSP00000297350:S15A	.	S	-	1	0	TNFRSF11B	120014708	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.797000	0.62503	1.006000	0.39211	-0.313000	0.08912	TCC		0.423	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			74	175	0	0	0	1	0	74	175				
DIP2B	57609	broad.mit.edu	37	12	51138418	51138418	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:51138418C>T	ENST00000301180.5	+	38	4561	c.4527C>T	c.(4525-4527)tgC>tgT	p.C1509C	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1509						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGAACTGTGCGGCTCTGAAC	0.478																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(4525-4527)tgC>tgT		DIP2 disco-interacting protein 2 homolog B (Drosophila)							196.0	155.0	169.0					12																	51138418		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138418C>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4527C>T	12.37:g.51138418C>T							p.C1509C	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			38	4561	+			1509					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.4527C>T	CCDS31799.1																																																																																				0.478	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		4	232	0	0	0	1	0	4	232				
SOX4	6659	broad.mit.edu	37	6	21596085	21596085	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:21596085C>T	ENST00000244745.1	+	1	2114	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	SOX4_ENST00000543472.1_Silent_p.S440S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	440					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			AGCCCGGCTCCGGCTCGCACT	0.597																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(1318-1320)tcC>tcT		SRY (sex determining region Y)-box 4							18.0	18.0	18.0					6																	21596085		2203	4300	6503	SO:0001819	synonymous_variant	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21596085C>T	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1320C>T	6.37:g.21596085C>T						SOX4_ENST00000543472.1_Silent_p.S440S	p.S440S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	2114	+	Ovarian(93;0.163)		440						Silent	SNP	ENST00000244745.1	37	c.1320C>T	CCDS4547.1																																																																																				0.597	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		3	37	0	0	0	1	0	3	37				
RTTN	25914	broad.mit.edu	37	18	67816254	67816254	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:67816254T>C	ENST00000255674.6	-	17	2478	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	RTTN_ENST00000454359.1_Missense_Mutation_p.D731G|RTTN_ENST00000437017.1_Missense_Mutation_p.D731G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	731					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCCAGAGGATCTTCTGTGTC	0.368																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2191-2193)gAt>gGt		rotatin							144.0	135.0	138.0					18																	67816254		1847	4092	5939	SO:0001583	missense	25914						binding	g.chr18:67816254T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2192A>G	18.37:g.67816254T>C	ENSP00000255674:p.Asp731Gly					RTTN_ENST00000454359.1_Missense_Mutation_p.D731G|RTTN_ENST00000437017.1_Missense_Mutation_p.D731G	p.D731G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			17	2478	-		Esophageal squamous(42;0.129)	731					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.2192A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.088414	0.55968	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66638	3.27;-0.22;-0.14	5.06	5.06	0.68205	Armadillo-like helical (1);Armadillo-type fold (1);	0.175355	0.48286	D	0.000191	T	0.58836	0.2150	L	0.56769	1.78	0.49582	D	0.999803	P	0.41475	0.751	B	0.31614	0.133	T	0.65005	-0.6273	10	0.52906	T	0.07	.	13.7983	0.63184	0.0:0.0:0.0:1.0	.	731	Q86VV8	RTTN_HUMAN	G	731	ENSP00000255674:D731G;ENSP00000402352:D731G;ENSP00000399520:D731G	ENSP00000255674:D731G	D	-	2	0	RTTN	65967234	1.000000	0.71417	0.568000	0.28447	0.952000	0.60782	5.211000	0.65219	1.899000	0.54978	0.460000	0.39030	GAT		0.368	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		78	166	0	0	0	1	0	78	166				
SLC12A1	6557	broad.mit.edu	37	15	48533740	48533740	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:48533740C>A	ENST00000558405.1	+	9	1258	c.1244C>A	c.(1243-1245)aCc>aAc	p.T415N	SLC12A1_ENST00000396577.3_Missense_Mutation_p.T415N|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T415N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	415					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCCAGAGGAACCATGCTGGCC	0.428																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1243-1245)aCc>aAc		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						232.0	222.0	226.0					15																	48533740		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48533740C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1244C>A	15.37:g.48533740C>A	ENSP00000453409:p.Thr415Asn					SLC12A1_ENST00000380993.3_Missense_Mutation_p.T415N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T415N	p.T415N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	10	1459	+		all_lung(180;0.00219)	415					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1244C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	34	5.314676	0.95655	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.99032	-5.35;-5.35	5.48	5.48	0.80851	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.98370	4.215	0.80722	D	1	P;P	0.52170	0.792;0.951	P;P	0.60236	0.776;0.871	D	0.97739	1.0207	10	0.87932	D	0	.	19.3286	0.94275	0.0:1.0:0.0:0.0	.	415;415	E9PDW4;Q13621	.;S12A1_HUMAN	N	228;415;415	ENSP00000370381:T415N;ENSP00000379822:T415N	ENSP00000370381:T415N	T	+	2	0	SLC12A1	46321032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.569000	0.86673	0.557000	0.71058	ACC		0.428	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			92	280	1	0	5.28548e-51	1	5.59639e-51	92	280				
PRMT6	55170	broad.mit.edu	37	1	107599766	107599766	+	Silent	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:107599766A>G	ENST00000370078.1	+	1	466	c.429A>G	c.(427-429)gtA>gtG	p.V143V	PRMT6_ENST00000361318.5_Silent_p.V84V			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	143	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TGGAGACTGTAGAGTTGCCGG	0.652																																						ENST00000361318.5																			0				biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14						c.(250-252)gtA>gtG		protein arginine methyltransferase 6							81.0	94.0	90.0					1																	107599766		2191	4289	6480	SO:0001819	synonymous_variant	55170				base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr1:107599766A>G	AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"""Protein arginine methyltransferases"""	18241	protein-coding gene	gene with protein product		608274	"""HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"""	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.429A>G	1.37:g.107599766A>G						PRMT6_ENST00000370078.1_Silent_p.V143V	p.V84V	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)	1	500	+		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)	143					A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	ENST00000370078.1	37	c.252A>G	CCDS41360.2	.	.	.	.	.	.	.	.	.	.	G	6.581	0.475600	0.12521	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.75	4.78	0.61160	.	.	.	.	.	T	0.48892	0.1525	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60281	-0.7294	5	0.87932	D	0	-28.7973	4.5038	0.11878	0.0822:0.1503:0.6121:0.1554	.	.	.	.	G	37	.	ENSP00000440829:R37G	R	+	1	2	PRMT6	107401289	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	1.067000	0.30616	1.437000	0.47472	-0.262000	0.10625	AGA		0.652	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030185.1	NM_018137		64	144	0	0	0	1	0	64	144				
CRYBB3	1417	broad.mit.edu	37	22	25599760	25599760	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:25599760C>T	ENST00000215855.2	+	4	305	c.225C>T	c.(223-225)cgC>cgT	p.R75R	CRYBB3_ENST00000404334.1_Silent_p.R75R	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	75	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						GGGCCTTCCGCGGGGAGCAGT	0.567																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(223-225)cgC>cgT		crystallin, beta B3							127.0	127.0	127.0					22																	25599760		2203	4300	6503	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25599760C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.225C>T	22.37:g.25599760C>T						CRYBB3_ENST00000404334.1_Silent_p.R75R	p.R75R	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			4	305	+			75			Beta/gamma crystallin 'Greek key' 2.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.225C>T	CCDS13830.1																																																																																				0.567	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		5	210	0	0	0	1	0	5	210				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	216	0	0	0	1	0	4	216				
OR4S2	219431	broad.mit.edu	37	11	55418785	55418785	+	Missense_Mutation	SNP	C	C	T	rs148733636		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:55418785C>T	ENST00000312422.2	+	1	406	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATCATGAACCGGGAGACATG	0.433																																						ENST00000312422.2																			1	Substitution - Missense(1)	p.R136W(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(406-408)Cgg>Tgg		olfactory receptor, family 4, subfamily S, member 2		C	TRP/ARG	1,4363		0,1,2181	197.0	166.0	177.0		406	-1.1	0.0	11	dbSNP_134	177	1,8077		0,1,4038	no	missense	OR4S2	NM_001004059.2	101	0,2,6219	TT,TC,CC		0.0124,0.0229,0.0161	benign	136/312	55418785	2,12440	2182	4039	6221	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418785C>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.406C>T	11.37:g.55418785C>T	ENSP00000310337:p.Arg136Trp						p.R136W	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	406	+		all_epithelial(135;0.0748)	136					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.406C>T	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065803	0.08388	2.29E-4	1.24E-4	ENSG00000174982	ENST00000312422	T	0.00949	5.51	5.09	-1.09	0.09904	GPCR, rhodopsin-like superfamily (1);	0.270733	0.25205	N	0.032358	T	0.00998	0.0033	L	0.50333	1.59	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.44757	-0.9307	10	0.44086	T	0.13	.	5.7679	0.18237	0.5214:0.3235:0.0:0.1551	.	136	Q8NH73	OR4S2_HUMAN	W	136	ENSP00000310337:R136W	ENSP00000310337:R136W	R	+	1	2	OR4S2	55175361	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-2.203000	0.01234	0.129000	0.18514	0.542000	0.68232	CGG		0.433	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		8	492	0	0	0	1	0	8	492				
PDZD4	57595	broad.mit.edu	37	X	153069951	153069951	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:153069951G>A	ENST00000164640.4	-	8	1358	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	PDZD4_ENST00000393758.2_Silent_p.V314V|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Silent_p.V280V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGCGGTTGACGTCCAGGG	0.632																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1165-1167)gtC>gtT		PDZ domain containing 4							49.0	40.0	43.0					X																	153069951		2203	4300	6503	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153069951G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1167C>T	X.37:g.153069951G>A						PDZD4_ENST00000544474.1_Silent_p.V280V|PDZD4_ENST00000393758.2_Silent_p.V314V	p.V389V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1358	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		389					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.1167C>T	CCDS14732.1																																																																																				0.632	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		34	21	0	0	0	1	0	34	21				
ACSM1	116285	broad.mit.edu	37	16	20696689	20696689	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:20696689C>T	ENST00000307493.4	-	2	296	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	ACSM1_ENST00000520010.1_Missense_Mutation_p.V77M|ACSM1_ENST00000219151.4_De_novo_Start_InFrame	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	77					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGCCATTCACCCACCAAAAA	0.468																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42								acyl-CoA synthetase medium-chain family member 1							183.0	169.0	174.0					16																	20696689		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20696689C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.229G>A	16.37:g.20696689C>T	ENSP00000301956:p.Val77Met					ACSM1_ENST00000520010.1_Missense_Mutation_p.V77M|ACSM1_ENST00000307493.4_Missense_Mutation_p.V77M				Q08AH1	ACSM1_HUMAN			0	296	-								Q08AH2|Q96A20	Translation_Start_Site	SNP	ENST00000307493.4	37		CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514272	0.64522	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.50277	0.75;0.75;0.75	4.38	3.43	0.39272	.	0.000000	0.39475	N	0.001359	T	0.52917	0.1764	L	0.48362	1.52	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.52426	-0.8577	10	0.56958	D	0.05	.	7.3404	0.26633	0.0:0.7279:0.0:0.2721	.	77	Q08AH1	ACSM1_HUMAN	M	77	ENSP00000301956:V77M;ENSP00000428047:V77M;ENSP00000428830:V77M	ENSP00000301956:V77M	V	-	1	0	ACSM1	20604190	0.993000	0.37304	1.000000	0.80357	0.891000	0.51852	0.227000	0.17795	1.057000	0.40506	0.609000	0.83330	GTG		0.468	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		4	227	0	0	0	1	0	4	227				
TCN1	6947	broad.mit.edu	37	11	59620692	59620692	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:59620692G>A	ENST00000257264.3	-	8	1328	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G	TCN1_ENST00000532419.1_5'Flank	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	408	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGTGGTTCGCCTCCACTCA	0.522																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1222-1224)ggC>ggT		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						215.0	209.0	211.0					11																	59620692		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59620692G>A	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1224C>T	11.37:g.59620692G>A							p.G408G	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			8	1328	-		all_epithelial(135;0.198)	408					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.1224C>T	CCDS7978.1																																																																																				0.522	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		159	367	0	0	0	1	0	159	367				
ATCAY	85300	broad.mit.edu	37	19	3913829	3913829	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3913829G>A	ENST00000450849.2	+	9	1407	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ATCAY_ENST00000398448.3_Missense_Mutation_p.V320I|ATCAY_ENST00000301260.6_Missense_Mutation_p.V314I|ATCAY_ENST00000600960.1_Missense_Mutation_p.V314I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	314	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TATGGAACACGTCCAGATCCC	0.562																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(940-942)Gtc>Atc		ataxia, cerebellar, Cayman type							92.0	97.0	95.0					19																	3913829		2058	4189	6247	SO:0001583	missense	85300				transport		protein binding	g.chr19:3913829G>A		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.940G>A	19.37:g.3913829G>A	ENSP00000390941:p.Val314Ile					ATCAY_ENST00000398448.3_Missense_Mutation_p.V320I|ATCAY_ENST00000301260.6_Missense_Mutation_p.V314I|ATCAY_ENST00000600960.1_Missense_Mutation_p.V314I	p.V314I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	9	1407	+		Hepatocellular(1079;0.137)	314			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.940G>A	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071994	0.36566	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.22336	1.96;1.96;1.96	4.4	4.4	0.53042	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.387514	0.25984	N	0.027056	T	0.12603	0.0306	N	0.20766	0.605	0.38823	D	0.955688	B;B;B	0.24368	0.102;0.094;0.014	B;B;B	0.23574	0.047;0.032;0.044	T	0.14839	-1.0458	10	0.21014	T	0.42	-0.0688	9.7614	0.40534	0.0968:0.0:0.9032:0.0	.	320;314;314	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	I	314;314;314;320;292	ENSP00000390941:V314I;ENSP00000301260:V314I;ENSP00000381466:V320I	ENSP00000301260:V314I	V	+	1	0	ATCAY	3864829	1.000000	0.71417	0.990000	0.47175	0.843000	0.47879	5.260000	0.65490	2.004000	0.58718	0.297000	0.19635	GTC		0.562	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			19	88	0	0	0	1	0	19	88				
VPS16	64601	broad.mit.edu	37	20	2844622	2844622	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:2844622G>T	ENST00000380445.3	+	16	1576	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	VPS16_ENST00000380443.3_Missense_Mutation_p.D188Y|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.D358Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	502					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCAGATGAGGATGTGGCTCG	0.572																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1504-1506)Gat>Tat		vacuolar protein sorting 16 homolog (S. cerevisiae)							89.0	82.0	84.0					20																	2844622		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2844622G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1504G>T	20.37:g.2844622G>T	ENSP00000369810:p.Asp502Tyr					VPS16_ENST00000380443.3_Missense_Mutation_p.D188Y|VPS16_ENST00000380469.3_Missense_Mutation_p.D358Y|VPS16_ENST00000481812.2_3'UTR	p.D502Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			16	1576	+			502					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1504G>T	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318560	0.60524	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.45668	0.89;0.89;0.89	5.1	5.1	0.69264	.	0.221612	0.49305	D	0.000152	T	0.40909	0.1136	L	0.46157	1.445	0.50467	D	0.999876	P;P;P	0.52061	0.913;0.95;0.913	B;B;B	0.42771	0.254;0.397;0.254	T	0.42932	-0.9422	10	0.66056	D	0.02	-16.9819	16.0535	0.80777	0.0:0.0:1.0:0.0	.	188;358;502	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	Y	502;358;240;188	ENSP00000369810:D502Y;ENSP00000369836:D358Y;ENSP00000369808:D188Y	ENSP00000369808:D188Y	D	+	1	0	VPS16	2792622	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.460000	0.90369	2.659000	0.90383	0.561000	0.74099	GAT		0.572	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		12	232	1	0	0.000978159	1	0.000987301	12	232				
MYPN	84665	broad.mit.edu	37	10	69882079	69882079	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:69882079T>C	ENST00000358913.5	+	2	1372	c.884T>C	c.(883-885)aTt>aCt	p.I295T	MYPN_ENST00000373675.3_Missense_Mutation_p.I295T|MYPN_ENST00000540630.1_Missense_Mutation_p.I295T|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	295	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GTGGTAGGAATTCCACCACCT	0.453																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(883-885)aTt>aCt		myopalladin							63.0	66.0	65.0					10																	69882079		2201	4300	6501	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69882079T>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.884T>C	10.37:g.69882079T>C	ENSP00000351790:p.Ile295Thr					MYPN_ENST00000373675.3_Missense_Mutation_p.I295T|MYPN_ENST00000540630.1_Missense_Mutation_p.I295T|MYPN_ENST00000354393.2_Intron	p.I295T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	1372	+			295			Ig-like 1.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.884T>C	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	T	5.580	0.291830	0.10567	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.64991	-0.13;-0.13;-0.13	5.38	5.38	0.77491	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.186835	0.47455	D	0.000221	T	0.53706	0.1813	N	0.03029	-0.43	0.37127	D	0.901074	D;D	0.63880	0.974;0.993	P;P	0.60949	0.647;0.881	T	0.63607	-0.6599	9	.	.	.	.	15.3978	0.74812	0.0:0.0:0.0:1.0	.	295;295	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	T	295	ENSP00000351790:I295T;ENSP00000441668:I295T;ENSP00000362779:I295T	.	I	+	2	0	MYPN	69552085	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.350000	0.59392	2.026000	0.59711	0.379000	0.24179	ATT		0.453	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		35	66	0	0	0	1	0	35	66				
FFAR3	2865	broad.mit.edu	37	19	35849929	35849929	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:35849929G>A	ENST00000327809.4	+	2	338	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCAGCGCCGCCCGGTGGCC	0.637																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(136-138)cGc>cAc		free fatty acid receptor 3							176.0	162.0	167.0					19																	35849929		2199	4295	6494	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35849929G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.137G>A	19.37:g.35849929G>A	ENSP00000328230:p.Arg46His					FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H	p.R46H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	338	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		46					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.137G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237152	0.22711	.	.	ENSG00000185897	ENST00000327809	T	0.38560	1.13	4.99	0.342	0.15996	GPCR, rhodopsin-like superfamily (1);	0.412595	0.22698	U	0.056734	T	0.26955	0.0660	L	0.29908	0.895	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.19031	-1.0318	10	0.49607	T	0.09	-13.6349	7.76	0.28946	0.4401:0.0:0.5599:0.0	.	46	O14843	FFAR3_HUMAN	H	46	ENSP00000328230:R46H	ENSP00000328230:R46H	R	+	2	0	FFAR3	40541769	0.000000	0.05858	0.870000	0.34147	0.872000	0.50106	0.230000	0.17852	0.286000	0.22352	0.455000	0.32223	CGC		0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		76	553	0	0	0	1	0	76	553				
PPP1R13B	23368	broad.mit.edu	37	14	104219392	104219392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr14:104219392C>T	ENST00000202556.9	-	7	1055	c.773G>A	c.(772-774)gGc>gAc	p.G258D		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	258	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CGTCAATTTGCCATTGTAAGA	0.418																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(772-774)gGc>gAc		protein phosphatase 1, regulatory subunit 13B							129.0	117.0	121.0					14																	104219392		1842	4099	5941	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104219392C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.773G>A	14.37:g.104219392C>T	ENSP00000202556:p.Gly258Asp						p.G258D	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			7	1055	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	258			Gln-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.773G>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611522	0.87258	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.35973	1.28	5.74	4.85	0.62838	.	0.151725	0.64402	D	0.000010	T	0.48874	0.1524	L	0.53249	1.67	0.80722	D	1	D	0.53745	0.962	P	0.55055	0.767	T	0.51926	-0.8643	10	0.72032	D	0.01	.	14.5026	0.67732	0.0:0.9298:0.0:0.0702	.	258	Q96KQ4	ASPP1_HUMAN	D	258;125	ENSP00000202556:G258D	ENSP00000202556:G258D	G	-	2	0	PPP1R13B	103289145	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	7.217000	0.77982	1.433000	0.47394	0.650000	0.86243	GGC		0.418	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		5	222	0	0	0	1	0	5	222				
TLN2	83660	broad.mit.edu	37	15	63131098	63131098	+	Missense_Mutation	SNP	G	G	A	rs145762497	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:63131098G>A	ENST00000561311.1	+	57	7648	c.7418G>A	c.(7417-7419)cGt>cAt	p.R2473H	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.R2473H			Q9Y4G6	TLN2_HUMAN	talin 2	2473	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AATCTTGTCCGTGCAGCCCAG	0.458													G|||	3	0.000599042	0.0015	0.0	5008	,	,		21442	0.0		0.0	False		,,,				2504	0.001					ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7417-7419)cGt>cAt		talin 2		G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	114.0	108.0	110.0		7418	5.7	1.0	15	dbSNP_134	110	0,8600		0,0,4300	yes	missense	TLN2	NM_015059.2	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	2473/2543	63131098	4,13002	2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63131098G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7418G>A	15.37:g.63131098G>A	ENSP00000453508:p.Arg2473His					TLN2_ENST00000306829.6_Missense_Mutation_p.R2473H|RP11-1069G10.1_ENST00000558404.1_RNA	p.R2473H			Q9Y4G6	TLN2_HUMAN			57	7648	+			2473			I/LWEQ.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.7418G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169058	0.57584	9.08E-4	0.0	ENSG00000171914	ENST00000306829	T	0.30714	1.52	5.68	5.68	0.88126	I/LWEQ (4);	0.051789	0.64402	D	0.000001	T	0.46870	0.1415	L	0.49640	1.575	0.49687	D	0.99981	B;D	0.56746	0.174;0.977	B;P	0.56823	0.105;0.807	T	0.15549	-1.0433	10	0.38643	T	0.18	-8.0497	19.786	0.96437	0.0:0.0:1.0:0.0	.	89;2473	B4DGF3;Q9Y4G6	.;TLN2_HUMAN	H	2473	ENSP00000303476:R2473H	ENSP00000303476:R2473H	R	+	2	0	TLN2	60918151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.900000	0.56295	2.676000	0.91093	0.563000	0.77884	CGT		0.458	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			5	268	0	0	0	1	0	5	268				
HSP90AA1	3320	broad.mit.edu	37	14	102550270	102550270	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr14:102550270G>A	ENST00000216281.8	-	7	1403	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R221C|HSP90AA1_ENST00000334701.7_Missense_Mutation_p.R522C	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	400					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	AACATCTCACGGGATATGTTT	0.378																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1564-1566)Cgt>Tgt		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						46.0	49.0	48.0					14																	102550270		2203	4299	6502	SO:0001583	missense	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102550270G>A	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1198C>T	14.37:g.102550270G>A	ENSP00000216281:p.Arg400Cys					HSP90AA1_ENST00000441629.2_Missense_Mutation_p.R221C|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.R400C	p.R522C	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			8	1845	-			400					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	ENST00000216281.8	37	c.1564C>T	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	g	13.61	2.289480	0.40494	.	.	ENSG00000080824	ENST00000216281;ENST00000334701;ENST00000441629	T;T;T	0.70282	-0.47;-0.47;-0.47	3.94	3.02	0.34903	Ribosomal protein S5 domain 2-type fold (1);	0.132284	0.47455	U	0.000234	D	0.87700	0.6243	H	0.99325	4.515	0.80722	D	1	P;D;D	0.58970	0.871;0.984;0.974	B;P;P	0.57009	0.31;0.811;0.754	D	0.89816	0.3985	10	0.87932	D	0	.	10.6496	0.45640	0.0:0.0:0.652:0.348	.	221;522;400	Q86U12;P07900-2;P07900	.;.;HS90A_HUMAN	C	400;522;221	ENSP00000216281:R400C;ENSP00000335153:R522C;ENSP00000396189:R221C	ENSP00000216281:R400C	R	-	1	0	HSP90AA1	101620023	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.548000	0.53670	0.741000	0.32674	0.561000	0.74099	CGT		0.378	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		6	163	0	0	0	1	0	6	163				
ZFR2	23217	broad.mit.edu	37	19	3825253	3825253	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3825253G>A	ENST00000262961.4	-	7	1198	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	396							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCGAGGCCACGGGTCTCTTGG	0.642																																						ENST00000262961.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(1186-1188)ccC>ccT		zinc finger RNA binding protein 2							11.0	13.0	12.0					19																	3825253		1973	4138	6111	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3825253G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1188C>T	19.37:g.3825253G>A							p.P396P	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	7	1198	-			396						Silent	SNP	ENST00000262961.4	37	c.1188C>T	CCDS45921.1																																																																																				0.642	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		12	25	0	0	0	1	0	12	25				
OR3A3	8392	broad.mit.edu	37	17	3324292	3324292	+	Missense_Mutation	SNP	G	G	A	rs201618782		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:3324292G>A	ENST00000291231.1	+	1	431	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	144					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TACAGCACCCGCATGAGTCAG	0.597																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(430-432)cGc>cAc		olfactory receptor, family 3, subfamily A, member 3							61.0	63.0	63.0					17																	3324292		2189	4274	6463	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324292G>A	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.431G>A	17.37:g.3324292G>A	ENSP00000291231:p.Arg144His						p.R144H	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	431	+			144					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.431G>A	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	g	0.104	-1.147334	0.01714	.	.	ENSG00000159961	ENST00000291231	T	0.00397	7.57	2.51	-1.79	0.07932	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	N	0.21448	0.665	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.15867	-1.0422	9	0.26408	T	0.33	.	3.1593	0.06515	0.2859:0.0:0.277:0.4371	.	144	P47888	OR3A3_HUMAN	H	144	ENSP00000291231:R144H	ENSP00000291231:R144H	R	+	2	0	OR3A3	3271042	0.000000	0.05858	0.115000	0.21578	0.198000	0.23893	-0.467000	0.06664	-0.368000	0.08040	-0.132000	0.14878	CGC		0.597	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			4	218	0	0	0	1	0	4	218				
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1492-1494)cgG>cgA		caspase recruitment domain family, member 6							69.0	70.0	70.0					5																	40852928		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852928G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1494G>A	5.37:g.40852928G>A						CARD6_ENST00000381677.3_Intron	p.R498R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1693	+			498					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1494G>A	CCDS3935.1																																																																																				0.438	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			4	211	0	0	0	1	0	4	211				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		6	147	0	0	0	1	0	6	147				
UNC45B	146862	broad.mit.edu	37	17	33486482	33486482	+	Silent	SNP	G	G	A	rs151107152	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:33486482G>A	ENST00000268876.5	+	8	994	c.897G>A	c.(895-897)gcG>gcA	p.A299A	UNC45B_ENST00000433649.1_Silent_p.A299A|UNC45B_ENST00000591048.1_Silent_p.A299A|UNC45B_ENST00000378449.1_Silent_p.A299A|UNC45B_ENST00000394570.2_Silent_p.A299A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	299					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGGATCAGGCGCTGAACCTGC	0.512																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(895-897)gcG>gcA		unc-45 homolog B (C. elegans)		G	,	0,4406		0,0,2203	152.0	140.0	144.0		897,897	-2.7	1.0	17	dbSNP_134	144	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	UNC45B	NM_001033576.1,NM_173167.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	299/930,299/932	33486482	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33486482G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.897G>A	17.37:g.33486482G>A						UNC45B_ENST00000433649.1_Silent_p.A299A|UNC45B_ENST00000378449.1_Silent_p.A299A|UNC45B_ENST00000394570.2_Silent_p.A299A|UNC45B_ENST00000591048.1_Silent_p.A299A	p.A299A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			8	994	+		Ovarian(249;0.17)	299					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.897G>A	CCDS11292.1																																																																																				0.512	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		129	244	0	0	0	1	0	129	244				
RBL2	5934	broad.mit.edu	37	16	53493484	53493484	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:53493484C>A	ENST00000262133.6	+	9	1438	c.1301C>A	c.(1300-1302)aCa>aAa	p.T434K	RBL2_ENST00000544545.1_Missense_Mutation_p.T218K|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	434	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCATGCTGACAGGCCTCAGG	0.443																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1300-1302)aCa>aAa		retinoblastoma-like 2 (p130)							88.0	77.0	81.0					16																	53493484		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53493484C>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1301C>A	16.37:g.53493484C>A	ENSP00000262133:p.Thr434Lys					RBL2_ENST00000544545.1_Missense_Mutation_p.T218K|RBL2_ENST00000379935.4_3'UTR	p.T434K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			9	1438	+			434			Domain A.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.1301C>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369408	0.61624	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.87179	-2.22;-2.22;-2.22	6.04	5.04	0.67666	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.542047	0.20461	N	0.091894	T	0.81541	0.4844	N	0.25890	0.77	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.18263	0.004;0.021;0.005;0.004	T	0.73100	-0.4089	10	0.66056	D	0.02	-1.5261	16.1653	0.81750	0.1339:0.8661:0.0:0.0	.	218;434;144;434	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	K	434;360;144;218	ENSP00000262133:T434K;ENSP00000443744:T360K;ENSP00000444685:T218K	ENSP00000262133:T434K	T	+	2	0	RBL2	52050985	0.089000	0.21612	0.039000	0.18376	0.994000	0.84299	2.488000	0.45276	2.873000	0.98535	0.563000	0.77884	ACA		0.443	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		4	152	1	0	1	1	1	4	152				
KRTAP4-2	85291	broad.mit.edu	37	17	39334113	39334113	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:39334113G>A	ENST00000377726.2	-	1	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657																																						ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(304-306)Cgc>Tgc		keratin associated protein 4-2							57.0	68.0	65.0					17																	39334113		2203	4296	6499	SO:0001583	missense	85291					keratin filament		g.chr17:39334113G>A	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.304C>T	17.37:g.39334113G>A	ENSP00000366955:p.Arg102Cys						p.R102C	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	347	-		Breast(137;0.000496)	102			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.304C>T	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	17.75	3.466580	0.63625	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01527	4.8	4.21	-8.42	0.00957	.	5.476650	0.00783	U	0.001287	T	0.02156	0.0067	L	0.58354	1.805	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.43686	-0.9376	10	0.49607	T	0.09	.	3.7115	0.08421	0.0899:0.4113:0.148:0.3508	.	102	Q9BYR5	KRA42_HUMAN	C	102;219	ENSP00000366955:R102C	ENSP00000366955:R102C	R	-	1	0	KRTAP4-2	36587639	0.000000	0.05858	0.000000	0.03702	0.537000	0.34900	-2.767000	0.00782	-1.361000	0.02169	-0.166000	0.13349	CGC		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			67	138	0	0	0	1	0	67	138				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	143	0	0	0	1	0	4	143				
DNAH12	201625	broad.mit.edu	37	3	57528508	57528509	+	Frame_Shift_Del	DEL	TA	TA	-	rs116066702	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:57528508_57528509delTA	ENST00000351747.2	-	2	269_270	c.89_90delTA	c.(88-90)atafs	p.I30fs	DNAH12_ENST00000389536.4_Frame_Shift_Del_p.I30fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.I30fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	30	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TATCAACGCCTATGTTTTCTGG	0.416																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(88-90)afs		dynein, axonemal, heavy chain 12																																				SO:0001589	frameshift_variant	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57528508_57528509delTA	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.89_90delTA	3.37:g.57528508_57528509delTA	ENSP00000295937:p.Ile30fs					DNAH12_ENST00000389536.4_Frame_Shift_Del_p.I30fs|DNAH12_ENST00000311202.6_Frame_Shift_Del_p.I30fs	p.I30fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			2	269_270	-			30			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Frame_Shift_Del	DEL	ENST00000351747.2	37	c.89_90delTA																																																																																					0.416	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		73	195						73	195	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4						2	4	---	---	---	---
SLU7	10569	broad.mit.edu	37	5	159831523	159831525	+	In_Frame_Del	DEL	TTC	TTC	-	rs368572927|rs140452810		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:159831523_159831525delTTC	ENST00000297151.4	-	15	1890_1892	c.1503_1505delGAA	c.(1501-1506)aagaaa>aaa	p.501_502KK>K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	501					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ctttttctttttcttcttcttct	0.335																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.(1501-1506)aaa>aa		SLU7 splicing factor homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159831523_159831525delTTC	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1503_1505delGAA	5.37:g.159831532_159831534delTTC	ENSP00000297151:p.Lys507del						p.KK505del	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	1890_1892	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	505					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	In_Frame_Del	DEL	ENST00000297151.4	37	c.1503_1505delGAA	CCDS4352.1																																																																																				0.335	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425		27	115						27	115	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74303583	74303592	+	RNA	DEL	ACAGAAAGAG	ACAGAAAGAG	-	rs587729457	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:74303583_74303592delACAGAAAGAG	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						agcctgggcaacagaaagagactgtctcaa	0.452														547	0.109225	0.0756	0.085	5008	,	,		13194	0.0169		0.1928	False		,,,				2504	0.181					ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74303583_74303592delACAGAAAGAG			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74303583_74303592delACAGAAAGAG										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.452	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		3	4						3	4	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	174						8	174	---	---	---	---
TOR4A	54863	broad.mit.edu	37	9	140173724	140173724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr9:140173724delC	ENST00000357503.2	+	2	779	c.583delC	c.(583-585)cccfs	p.P195fs		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	195					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										GCTGCACGGGCCCAGTGGCGT	0.706																																						ENST00000357503.2																			0											c.(583-585)ccfs		torsin family 4, member A							4.0	5.0	5.0					9																	140173724		1974	3770	5744	SO:0001589	frameshift_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173724delC	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.583delC	9.37:g.140173724delC	ENSP00000350102:p.Pro195fs						p.P195fs	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	779	+			195					A2BFA4	Frame_Shift_Del	DEL	ENST00000357503.2	37	c.583delC	CCDS7041.1																																																																																				0.706	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		2	4						2	4	---	---	---	---
BMI1	648	broad.mit.edu	37	10	22616921	22616925	+	Frame_Shift_Del	DEL	AAGAT	AAGAT	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:22616921_22616925delAAGAT	ENST00000376663.3	+	6	864_868	c.359_363delAAGAT	c.(358-363)gaagatfs	p.ED120fs	COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.ED263fs	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	120					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTTGCAGATGAAGATAAGAGAATTA	0.288																																						ENST00000376663.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(358-363)gfs		BMI1 polycomb ring finger oncogene																																				SO:0001589	frameshift_variant	648							g.chr10:22616921_22616925delAAGAT	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.359_363delAAGAT	10.37:g.22616921_22616925delAAGAT	ENSP00000365851:p.Glu120fs					COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.ED263fs	p.ED120fs	NM_005180.8	NP_005171.4					6	864_868	+								Q16030|Q5T8Z3|Q96F37	Frame_Shift_Del	DEL	ENST00000376663.3	37	c.359_363delAAGAT	CCDS7138.1																																																																																				0.288	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		58	122						58	122	---	---	---	---
SEMA4G	57715	broad.mit.edu	37	10	102743064	102743066	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:102743064_102743066delCCA	ENST00000370250.4	+	14	2066_2068	c.1693_1695delCCA	c.(1693-1695)ccadel	p.P568del	SEMA4G_ENST00000210633.3_In_Frame_Del_p.P573del|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	568	Ig-like C2-type.|Poly-Pro.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCACAGGGCCACCACCACCAC	0.616																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1708-1710)del		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G			,,,,	20,0,4218		0,0,20,0,0,2099					,,,,	2.9	1.0		dbSNP_134	28	58,3,8161		1,0,56,0,3,4051	no	intron,intron,intron,codingComplex,intron	SEMA4G,MRPL43	NM_176794.1,NM_176793.1,NM_176792.2,NM_017893.3,NM_001203244.1	,,,,	1,0,76,0,3,6150	A1A1,A1A2,A1R,A2A2,A2R,RR		0.7419,0.4719,0.6501	,,,,	,,,,		78,3,12379				SO:0001651	inframe_deletion	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102743064_102743066delCCA	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1693_1695delCCA	10.37:g.102743073_102743075delCCA	ENSP00000359270:p.Pro568del					MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del|RP11-108L7.4_ENST00000447344.1_RNA	p.P573del			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	14	1786_1788	+		Colorectal(252;0.234)	568			Ig-like C2-type.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	In_Frame_Del	DEL	ENST00000370250.4	37	c.1708_1710delCCA																																																																																					0.616	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			2	4						2	4	---	---	---	---
TAF10	6881	broad.mit.edu	37	11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)ggafs	p.G51fs	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_Intron	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816																																						ENST00000299424.4																			0											c.(151-153)gafs		TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa							2.0	2.0	2.0					11																	6633269		1139	2768	3907	SO:0001589	frameshift_variant	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6633269delC	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.152delG	11.37:g.6633269delC	ENSP00000299424:p.Gly51fs					TAF10_ENST00000531760.1_Intron	p.G51fs	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	629	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	51					O00703|Q13175|Q6FH13	Frame_Shift_Del	DEL	ENST00000299424.4	37	c.152delG	CCDS7769.1																																																																																				0.816	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		2	4						2	4	---	---	---	---
DDX51	317781	broad.mit.edu	37	12	132628264	132628264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:132628264delC	ENST00000397333.3	-	2	533	c.495delG	c.(493-495)gggfs	p.G165fs	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	165					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTTCCCGAACCCCCCCAGCA	0.756																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(493-495)ggfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51				13,2521		4,5,1258	3.0	4.0	3.0			1.3	0.1	12		3	24,6238		7,10,3114	no	frameshift	DDX51	NM_175066.3		11,15,4372	A1A1,A1R,RR		0.3833,0.513,0.4206			132628264	37,8759	1456	3450	4906	SO:0001589	frameshift_variant	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132628264delC	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.495delG	12.37:g.132628264delC	ENSP00000380495:p.Gly165fs						p.G165fs	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	2	533	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	165					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Frame_Shift_Del	DEL	ENST00000397333.3	37	c.495delG	CCDS41865.1																																																																																				0.756	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		2	4						2	4	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		10	485						10	485	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32126700	32126726	+	IGR	DEL	AATGTGAACATACAAAAAACAAATCAG	AATGTGAACATACAAAAAACAAATCAG	-	rs373550186|rs560721962	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG								RP11-1166P10.6 (30594 upstream) : HERC2P4 (54578 downstream)																							ATGCCTGCCAAATGTGAACATACAAAAAACAAATCAGAATGTGCCAT	0.352																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32126700_32126726delAATGTGAACATACAAAAAACAAATCAG																													16.37:g.32126700_32126726delAATGTGAACATACAAAAAACAAATCAG														0	456	-									RNA	DEL		37																																																																																					0	0.352									3	5						3	5	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7646596	7646597	+	Intron	INS	-	-	T	rs374790567|rs564117935	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:7646596_7646597insT	ENST00000572933.1	+	12	3364				DNAH2_ENST00000570791.1_Frame_Shift_Ins_p.F763fs|DNAH2_ENST00000082259.3_Frame_Shift_Ins_p.F763fs|DNAH2_ENST00000389173.2_Intron			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGTCATTTTACTTTTTTTTTTC	0.342																																						ENST00000570791.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2284-2289)tattttfs		dynein, axonemal, heavy chain 2																																				SO:0001627	intron_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7646596_7646597insT	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1904+136->T	17.37:g.7646606_7646606dupT						DNAH2_ENST00000082259.3_Frame_Shift_Ins_p.YF762fs|DNAH2_ENST00000572933.1_Intron|DNAH2_ENST00000389173.2_Intron	p.YF762fs			Q9P225	DYH2_HUMAN			14	2371_2372	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	0			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Ins	INS	ENST00000572933.1	37	c.2286_2287insT	CCDS32551.1																																																																																				0.342	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		2	4						2	4	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32293599	32293599	+	Frame_Shift_Del	DEL	C	C	-	rs551261047		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:32293599delC	ENST00000382112.3	+	39	4378	c.4308delC	c.(4306-4308)atcfs	p.I1436fs	DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000539165.1_Frame_Shift_Del_p.I262fs|DEPDC5_ENST00000400248.2_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.I1345fs|DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.I1445fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.I1423fs|DEPDC5_ENST00000400246.1_Frame_Shift_Del_p.I1445fs	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1445					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						CACTCAACATCAGCTGCTTGC	0.527																																						ENST00000400246.1																			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.(4333-4335)atfs		DEP domain containing 5							105.0	108.0	107.0					22																	32293599		1974	4140	6114	SO:0001589	frameshift_variant	9681				intracellular signal transduction			g.chr22:32293599delC	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.4308delC	22.37:g.32293599delC	ENSP00000371546:p.Ile1436fs					DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.I1445fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.I1423fs|DEPDC5_ENST00000382112.3_Frame_Shift_Del_p.I1436fs|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000539165.1_Frame_Shift_Del_p.I262fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.I1345fs|DEPDC5_ENST00000400248.1_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.I1414fs	p.I1445fs			O75140	DEPD5_HUMAN			40	4477	+			1414					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Frame_Shift_Del	DEL	ENST00000382112.3	37	c.4335delC	CCDS46692.1																																																																																				0.527	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		22	218						22	218	---	---	---	---
