#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
MUC16	94025	broad.mit.edu	37	19	9087907	9087907	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:9087907G>T	ENST00000397910.4	-	1	4111	c.3908C>A	c.(3907-3909)tCt>tAt	p.S1303Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1303	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGGTGAAGACCCAGAAGA	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3907-3909)tCt>tAt		mucin 16, cell surface associated							143.0	139.0	140.0					19																	9087907		2038	4196	6234	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087907G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3908C>A	19.37:g.9087907G>T	ENSP00000381008:p.Ser1303Tyr						p.S1303Y	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4111	-			1303			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3908C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.570	-0.299818	0.05532	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.48	-2.96	0.05547	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.34346	0.18	T	0.44667	-0.9313	8	0.87932	D	0	.	2.7489	0.05274	0.3846:0.2527:0.3626:0.0	.	1303	B5ME49	.	Y	1303	ENSP00000381008:S1303Y	ENSP00000381008:S1303Y	S	-	2	0	MUC16	8948907	0.000000	0.05858	0.000000	0.03702	0.150000	0.21749	-1.304000	0.02741	-0.792000	0.04480	0.305000	0.20034	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	82	1	0	0.014758	1	0.0155347	5	82				
GPR158	57512	broad.mit.edu	37	10	25887040	25887040	+	Missense_Mutation	SNP	G	G	A	rs200489721		TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:25887040G>A	ENST00000376351.3	+	11	2844	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	829					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACCAAACGGAAGAGTCCAG	0.463																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2485-2487)Gaa>Aaa		G protein-coupled receptor 158							119.0	130.0	126.0					10																	25887040		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887040G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2485G>A	10.37:g.25887040G>A	ENSP00000365529:p.Glu829Lys					GPR158_ENST00000490549.1_3'UTR	p.E829K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2844	+			829					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2485G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295145	0.95574	.	.	ENSG00000151025	ENST00000376351	T	0.61980	0.06	5.79	5.79	0.91817	.	0.643363	0.14775	N	0.299137	T	0.50667	0.1629	N	0.24115	0.695	0.36953	D	0.892968	B	0.33583	0.418	B	0.30495	0.116	T	0.52381	-0.8583	10	0.18710	T	0.47	.	20.0221	0.97508	0.0:0.0:1.0:0.0	.	829	Q5T848	GP158_HUMAN	K	829	ENSP00000365529:E829K	ENSP00000365529:E829K	E	+	1	0	GPR158	25927046	1.000000	0.71417	0.008000	0.14137	0.826000	0.46750	9.281000	0.95811	2.732000	0.93576	0.650000	0.86243	GAA		0.463	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		26	149	0	0	0	1	0	26	149				
CST7	8530	broad.mit.edu	37	20	24937950	24937950	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:24937950G>C	ENST00000480798.1	+	2	374	c.98G>C	c.(97-99)cGt>cCt	p.R33P	CST7_ENST00000376835.2_Missense_Mutation_p.R55P	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	33					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTTAACTCACGTGTGAAGCCA	0.478																																						ENST00000480798.1																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(97-99)cGt>cCt		cystatin F (leukocystatin)							263.0	257.0	259.0					20																	24937950		2203	4300	6503	SO:0001583	missense	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24937950G>C	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.98G>C	20.37:g.24937950G>C	ENSP00000420384:p.Arg33Pro					CST7_ENST00000376835.2_Missense_Mutation_p.R55P	p.R33P	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN			2	374	+			33					Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	c.98G>C	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	g	2.983	-0.209893	0.06140	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.09445	3.01;2.98	3.98	0.521	0.17046	.	1.579980	0.03150	N	0.167863	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B	0.33777	0.425	B	0.24155	0.051	T	0.34850	-0.9812	10	0.32370	T	0.25	-33.6907	8.2082	0.31467	0.2668:0.0:0.7332:0.0	.	33	O76096	CYTF_HUMAN	P	33;55	ENSP00000420384:R33P;ENSP00000366031:R55P	ENSP00000366031:R55P	R	+	2	0	CST7	24885950	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.638000	0.24674	0.018000	0.15052	0.506000	0.49869	CGT		0.478	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		8	137	0	0	0	1	0	8	137				
RAB3C	115827	broad.mit.edu	37	5	57913641	57913641	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:57913641G>A	ENST00000282878.4	+	2	365	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	66					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.D66N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTGGGATCGATTTCAAAGT	0.408																																						ENST00000282878.4																			1	Substitution - Missense(1)	p.D66N(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(196-198)Gat>Aat		RAB3C, member RAS oncogene family							57.0	52.0	54.0					5																	57913641		2203	4299	6502	SO:0001583	missense	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913641G>A	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.196G>A	5.37:g.57913641G>A	ENSP00000282878:p.Asp66Asn						p.D66N	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	2	365	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	66						Missense_Mutation	SNP	ENST00000282878.4	37	c.196G>A	CCDS3976.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486112	0.96323	.	.	ENSG00000152932	ENST00000282878	D	0.83335	-1.71	5.7	5.7	0.88788	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.91600	0.7346	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91959	0.5577	10	0.87932	D	0	-21.409	19.8247	0.96612	0.0:0.0:1.0:0.0	.	66	Q96E17	RAB3C_HUMAN	N	66	ENSP00000282878:D66N	ENSP00000282878:D66N	D	+	1	0	RAB3C	57949398	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.869000	0.99810	2.696000	0.92011	0.655000	0.94253	GAT		0.408	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453		5	26	0	0	0	1	0	5	26				
TMEM59L	25789	broad.mit.edu	37	19	18729079	18729079	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:18729079C>T	ENST00000600490.1	+	7	964	c.779C>T	c.(778-780)tCc>tTc	p.S260F	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S260F			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	260						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGTTGCATGTCCCGGTGGGTG	0.647																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(778-780)tCc>tTc		transmembrane protein 59-like							47.0	32.0	37.0					19																	18729079		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18729079C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.779C>T	19.37:g.18729079C>T	ENSP00000470879:p.Ser260Phe					TMEM59L_ENST00000262817.3_Missense_Mutation_p.S260F	p.S260F			Q9UK28	TM59L_HUMAN			7	964	+			260						Missense_Mutation	SNP	ENST00000600490.1	37	c.779C>T	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787524	0.70337	.	.	ENSG00000105696	ENST00000262817	T	0.66099	-0.19	4.21	4.21	0.49690	.	0.278803	0.36665	N	0.002469	T	0.76681	0.4021	M	0.71206	2.165	0.58432	D	0.999998	D	0.76494	0.999	D	0.72625	0.978	T	0.80271	-0.1452	10	0.87932	D	0	-24.4871	14.0894	0.64980	0.0:1.0:0.0:0.0	.	260	Q9UK28	TM59L_HUMAN	F	260	ENSP00000262817:S260F	ENSP00000262817:S260F	S	+	2	0	TMEM59L	18590079	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.970000	0.56824	2.046000	0.60703	0.561000	0.74099	TCC		0.647	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			3	13	0	0	0	1	0	3	13				
RBM41	55285	broad.mit.edu	37	X	106358623	106358623	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chrX:106358623C>A	ENST00000372479.3	-	4	512	c.482G>T	c.(481-483)gGa>gTa	p.G161V	RBM41_ENST00000372487.1_Missense_Mutation_p.G161V|RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000203616.8_Missense_Mutation_p.G161V	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	161							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACGATCAGCTCCCTGAAATAA	0.438																																						ENST00000372487.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(481-483)gGa>gTa		RNA binding motif protein 41							168.0	155.0	159.0					X																	106358623		2203	4300	6503	SO:0001583	missense	55285						nucleotide binding|RNA binding	g.chrX:106358623C>A	BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.482G>T	X.37:g.106358623C>A	ENSP00000361557:p.Gly161Val					RBM41_ENST00000471079.1_5'UTR|RBM41_ENST00000372479.3_Missense_Mutation_p.G161V|RBM41_ENST00000203616.8_Missense_Mutation_p.G161V	p.G161V	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN			4	508	-			161					Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	ENST00000372479.3	37	c.482G>T	CCDS14526.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546417	0.65198	.	.	ENSG00000089682	ENST00000372487;ENST00000372479;ENST00000203616;ENST00000372482	T;T	0.66638	0.67;-0.22	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.70945	0.3282	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75042	-0.3457	10	0.87932	D	0	.	13.3553	0.60625	0.0:1.0:0.0:0.0	.	161	Q96IZ5	RBM41_HUMAN	V	161	ENSP00000361565:G161V;ENSP00000361557:G161V	ENSP00000203616:G161V	G	-	2	0	RBM41	106245279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.390000	0.73204	2.216000	0.71823	0.468000	0.43344	GGA		0.438	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057819.1	NM_018301		14	28	1	0	6.31663e-08	1	7.219e-08	14	28				
MAP2K4	6416	broad.mit.edu	37	17	12032509	12032509	+	Silent	SNP	T	T	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr17:12032509T>C	ENST00000353533.5	+	9	1008	c.945T>C	c.(943-945)gaT>gaC	p.D315D	MAP2K4_ENST00000415385.3_Silent_p.D326D	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTGTATTTGATCAACTAACAC	0.423			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(976-978)gaT>gaC		mitogen-activated protein kinase kinase 4							88.0	80.0	83.0					17																	12032509		2203	4300	6503	SO:0001819	synonymous_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032509T>C	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.945T>C	17.37:g.12032509T>C						MAP2K4_ENST00000353533.5_Silent_p.D315D	p.D326D			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1031	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	315			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	c.978T>C	CCDS11162.1																																																																																				0.423	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			3	29	0	0	0	1	0	3	29				
FHOD1	29109	broad.mit.edu	37	16	67264568	67264568	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr16:67264568A>G	ENST00000258201.4	-	18	3041	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	932	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGTCCAGGAAGTGGGTGAGG	0.682																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2794-2796)Ttc>Ctc		formin homology 2 domain containing 1							117.0	121.0	119.0					16																	67264568		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264568A>G	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2794T>C	16.37:g.67264568A>G	ENSP00000258201:p.Phe932Leu					FHOD1_ENST00000567687.1_Missense_Mutation_p.F511L	p.F932L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	18	3041	-		Ovarian(137;0.0563)	932			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2794T>C	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627790	0.87560	.	.	ENSG00000135723	ENST00000258201	T	0.30182	1.54	5.61	5.61	0.85477	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.70595	2.14	0.80722	D	1	B	0.33379	0.41	B	0.43386	0.418	T	0.43572	-0.9383	10	0.59425	D	0.04	.	14.6299	0.68647	1.0:0.0:0.0:0.0	.	932	Q9Y613	FHOD1_HUMAN	L	932	ENSP00000258201:F932L	ENSP00000258201:F932L	F	-	1	0	FHOD1	65822069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.977000	0.93446	2.136000	0.66102	0.459000	0.35465	TTC		0.682	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			19	109	0	0	0	1	0	19	109				
KIDINS220	57498	broad.mit.edu	37	2	8919107	8919107	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:8919107T>A	ENST00000256707.3	-	19	2714	c.2533A>T	c.(2533-2535)Aat>Tat	p.N845Y	KIDINS220_ENST00000473731.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000418530.1_Missense_Mutation_p.N803Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N846Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	845	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCACGACTATTAAGGAACACA	0.418																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(2533-2535)Aat>Tat		kinase D-interacting substrate, 220kDa							220.0	199.0	206.0					2																	8919107		1903	4132	6035	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919107T>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2533A>T	2.37:g.8919107T>A	ENSP00000256707:p.Asn845Tyr					KIDINS220_ENST00000418530.1_Missense_Mutation_p.N803Y|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N846Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N845Y	p.N845Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			19	2714	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		845			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.2533A>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128451	0.56721	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.64	5.64	0.86602	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.986;1.0;1.0	T	0.56251	-0.8010	10	0.72032	D	0.01	.	16.1617	0.81721	0.0:0.0:0.0:1.0	.	846;846;803;845	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	Y	592;529;845;845;803;845;846;846	ENSP00000420364:N592Y;ENSP00000256707:N845Y;ENSP00000411849:N845Y;ENSP00000414923:N803Y;ENSP00000418974:N845Y;ENSP00000419964:N846Y;ENSP00000319947:N846Y	ENSP00000256707:N845Y	N	-	1	0	KIDINS220	8836558	1.000000	0.71417	0.313000	0.25210	0.057000	0.15508	7.948000	0.87774	2.275000	0.75901	0.528000	0.53228	AAT		0.418	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		9	88	0	0	0	1	0	9	88				
TUBA3D	113457	broad.mit.edu	37	2	132237644	132237644	+	Silent	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:132237644G>A	ENST00000321253.6	+	4	485	c.378G>A	c.(376-378)gcG>gcA	p.A126A	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	126					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCTCAGGCGGATCTGTGCA	0.577																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(376-378)gcG>gcA		tubulin, alpha 3d							43.0	47.0	45.0					2																	132237644		2203	4300	6503	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237644G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.378G>A	2.37:g.132237644G>A						TUBA3D_ENST00000409047.2_3'UTR	p.A126A	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	485	+			126					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.378G>A	CCDS33290.1																																																																																				0.577	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		4	57	0	0	0	1	0	4	57				
SPATA31D1	389763	broad.mit.edu	37	9	84605947	84605947	+	Missense_Mutation	SNP	C	C	T	rs367678939		TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:84605947C>T	ENST00000344803.2	+	4	609	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	188	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATACTGTCCCCTCGGCCTAA	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18857	0.0		0.0	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(562-564)Cct>Tct		SPATA31 subfamily D, member 1		C	SER/PRO	0,3830		0,0,1915	115.0	115.0	115.0		562	-4.7	0.0	9		115	1,8263		0,1,4131	no	missense	FAM75D1	NM_001001670.2	74	0,1,6046	TT,TC,CC		0.0121,0.0,0.0083	benign	188/1577	84605947	1,12093	1915	4132	6047	SO:0001583	missense	389763							g.chr9:84605947C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.562C>T	9.37:g.84605947C>T	ENSP00000341988:p.Pro188Ser						p.P188S	NM_001001670.2	NP_001001670.1					4	609	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.562C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	1.971	-0.436428	0.04636	0.0	1.21E-4	ENSG00000214929	ENST00000344803	T	0.05025	3.51	3.1	-4.69	0.03299	.	0.587959	0.14316	N	0.327345	T	0.03136	0.0092	L	0.28115	0.83	0.09310	N	1	B	0.28178	0.202	B	0.25140	0.058	T	0.43426	-0.9392	10	0.02654	T	1	-0.14	10.3274	0.43801	0.0:0.2523:0.0:0.7477	.	188	Q6ZQQ2	F75D1_HUMAN	S	188	ENSP00000341988:P188S	ENSP00000341988:P188S	P	+	1	0	FAM75D1	83795767	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.368000	0.07543	-1.191000	0.02695	-0.151000	0.13558	CCT		0.557	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		4	83	0	0	0	1	0	4	83				
LAMA3	3909	broad.mit.edu	37	18	21519263	21519263	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr18:21519263C>T	ENST00000313654.9	+	68	9180	c.8939C>T	c.(8938-8940)aCc>aTc	p.T2980I	LAMA3_ENST00000587184.1_Missense_Mutation_p.T1315I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2924I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.T1371I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2980					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTTCCCAAGACCCAGGCCAAT	0.537																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8938-8940)aCc>aTc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						161.0	158.0	159.0					18																	21519263		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21519263C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8939C>T	18.37:g.21519263C>T	ENSP00000324532:p.Thr2980Ile					LAMA3_ENST00000269217.6_Missense_Mutation_p.T1371I|LAMA3_ENST00000399516.3_Missense_Mutation_p.T2924I|LAMA3_ENST00000587184.1_Missense_Mutation_p.T1315I|LAMA3_ENST00000588770.1_3'UTR	p.T2980I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			68	9180	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2980					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8939C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.603129	0.13939	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18174	2.24;2.23;3.8	5.31	1.58	0.23477	Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.09291	0.0229	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.21309	0.006;0.006;0.003;0.054	B;B;B;B	0.12837	0.006;0.006;0.002;0.008	T	0.42103	-0.9471	9	0.14656	T	0.56	.	7.4829	0.27415	0.0:0.648:0.0:0.352	.	1315;1371;2924;2980	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	I	2980;2924;1371	ENSP00000324532:T2980I;ENSP00000382432:T2924I;ENSP00000269217:T1371I	ENSP00000269217:T1371I	T	+	2	0	LAMA3	19773261	0.001000	0.12720	0.000000	0.03702	0.093000	0.18481	0.403000	0.20982	0.005000	0.14708	-0.254000	0.11334	ACC		0.537	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		17	110	0	0	0	1	0	17	110				
MCHR1	2847	broad.mit.edu	37	22	41075565	41075565	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:41075565G>A	ENST00000249016.4	+	1	812	c.116G>A	c.(115-117)gGa>gAa	p.G39E	MCHR1_ENST00000381433.2_Missense_Mutation_p.G39E|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	39					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGCGCTCCGGGACAAGGTGGC	0.692																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(115-117)gGa>gAa		melanin-concentrating hormone receptor 1							24.0	29.0	28.0					22																	41075565		2202	4300	6502	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41075565G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.116G>A	22.37:g.41075565G>A	ENSP00000249016:p.Gly39Glu					MCHR1_ENST00000381433.2_Missense_Mutation_p.G39E|MCHR1_ENST00000498400.1_Intron	p.G39E	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			1	812	+			39					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.116G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169817	0.38315	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.72942	-0.2;-0.7	4.54	4.54	0.55810	.	1.082930	0.07259	N	0.867218	T	0.72526	0.3471	N	0.08118	0	0.31784	N	0.630578	D	0.89917	1.0	D	0.87578	0.998	T	0.71178	-0.4669	10	0.72032	D	0.01	.	13.1496	0.59482	0.0:0.0:1.0:0.0	.	39	Q99705	MCHR1_HUMAN	E	39	ENSP00000249016:G39E;ENSP00000370841:G39E	ENSP00000249016:G39E	G	+	2	0	MCHR1	39405511	1.000000	0.71417	0.868000	0.34077	0.244000	0.25665	4.253000	0.58791	2.251000	0.74343	0.491000	0.48974	GGA		0.692	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		3	37	0	0	0	1	0	3	37				
KCNB2	9312	broad.mit.edu	37	8	73849324	73849324	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:73849324A>C	ENST00000523207.1	+	3	2322	c.1734A>C	c.(1732-1734)gaA>gaC	p.E578D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	578					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAATGGAAGAAGTGGTGTGTC	0.527																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1732-1734)gaA>gaC		potassium voltage-gated channel, Shab-related subfamily, member 2							73.0	67.0	69.0					8																	73849324		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849324A>C	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1734A>C	8.37:g.73849324A>C	ENSP00000430846:p.Glu578Asp						p.E578D	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2322	+	Breast(64;0.137)		578					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1734A>C	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628318	0.46944	.	.	ENSG00000182674	ENST00000523207	T	0.25912	1.77	4.93	-0.705	0.11252	.	0.669254	0.12265	N	0.484328	T	0.30166	0.0756	L	0.50333	1.59	0.30551	N	0.765414	P	0.42010	0.768	P	0.50192	0.634	T	0.34403	-0.9830	10	0.19147	T	0.46	.	11.0332	0.47785	0.4712:0.0:0.5288:0.0	.	578	Q92953	KCNB2_HUMAN	D	578	ENSP00000430846:E578D	ENSP00000430846:E578D	E	+	3	2	KCNB2	74011878	0.636000	0.27207	0.993000	0.49108	0.988000	0.76386	-0.295000	0.08298	-0.338000	0.08413	0.533000	0.62120	GAA		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		6	49	0	0	0	1	0	6	49				
KBTBD12	166348	broad.mit.edu	37	3	127646682	127646682	+	Silent	SNP	T	T	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:127646682T>C	ENST00000405109.1	+	3	1613	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000405256.1_Silent_p.S382S			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	382										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCTGGGCAGTATTCATAATG	0.368																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(1144-1146)agT>agC		kelch repeat and BTB (POZ) domain containing 12							133.0	141.0	138.0					3																	127646682		2203	4300	6503	SO:0001819	synonymous_variant	166348							g.chr3:127646682T>C		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1146T>C	3.37:g.127646682T>C						KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000405256.1_Silent_p.S382S|KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Intron	p.S382S			Q3ZCT8	KBTBC_HUMAN			3	1613	+			382					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1146T>C	CCDS33848.2																																																																																				0.368	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		8	86	0	0	0	1	0	8	86				
PCDH8	5100	broad.mit.edu	37	13	53419058	53419058	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr13:53419058C>T	ENST00000377942.3	-	3	3053	c.2850G>A	c.(2848-2850)gcG>gcA	p.A950A	PCDH8_ENST00000338862.4_Silent_p.A853A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	950					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCGGTGCACGCCCACAGTC	0.552																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2848-2850)gcG>gcA		protocadherin 8							69.0	50.0	56.0					13																	53419058		2203	4300	6503	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419058C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2850G>A	13.37:g.53419058C>T						PCDH8_ENST00000338862.4_Silent_p.A853A	p.A950A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3053	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	950					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2850G>A	CCDS9438.1																																																																																				0.552	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		6	36	0	0	0	1	0	6	36				
COLEC10	10584	broad.mit.edu	37	8	120114623	120114623	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:120114623G>T	ENST00000332843.2	+	4	370	c.329G>T	c.(328-330)gGa>gTa	p.G110V	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	110	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGAATACCTGGAGAAAAAGGC	0.289																																						ENST00000332843.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(328-330)gGa>gTa		collectin sub-family member 10 (C-type lectin)							108.0	113.0	111.0					8																	120114623		2203	4300	6503	SO:0001583	missense	10584					collagen|cytoplasm	mannose binding	g.chr8:120114623G>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.329G>T	8.37:g.120114623G>T	ENSP00000332723:p.Gly110Val					COLEC10_ENST00000521788.1_3'UTR	p.G110V	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		4	370	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		110			Collagen-like.		Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	c.329G>T	CCDS6327.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647520	0.67358	.	.	ENSG00000184374	ENST00000332843	D	0.99429	-5.89	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97760	1.0220	10	0.62326	D	0.03	-13.4543	17.6494	0.88158	0.0:0.0:1.0:0.0	.	110	Q9Y6Z7	COL10_HUMAN	V	110	ENSP00000332723:G110V	ENSP00000332723:G110V	G	+	2	0	COLEC10	120183804	1.000000	0.71417	0.998000	0.56505	0.566000	0.35808	7.039000	0.76544	2.767000	0.95098	0.557000	0.71058	GGA		0.289	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			10	23	1	0	1.58986e-06	1	1.76652e-06	10	23				
CGB7	94027	broad.mit.edu	37	19	49558205	49558205	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:49558205G>A	ENST00000597853.1	-	4	2947	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CGB7_ENST00000356213.4_Missense_Mutation_p.R24W|CGB7_ENST00000596965.1_Missense_Mutation_p.R26W|CGB7_ENST00000377280.3_Missense_Mutation_p.R26W|CGB7_ENST00000593309.1_5'Flank			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	26					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACCGTGGCCGAAGCATCTCC	0.652																																						ENST00000597853.1																			0				lung(3)|urinary_tract(2)	5						c.(76-78)Cgg>Tgg		chorionic gonadotropin, beta polypeptide 7							88.0	68.0	75.0					19																	49558205		1502	2678	4180	SO:0001583	missense	94027							g.chr19:49558205G>A	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.76C>T	19.37:g.49558205G>A	ENSP00000470813:p.Arg26Trp					CGB7_ENST00000377280.3_Missense_Mutation_p.R26W|CGB7_ENST00000596965.1_Missense_Mutation_p.R26W|CGB7_ENST00000356213.4_Missense_Mutation_p.R24W	p.R26W						all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	4	2947	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Missense_Mutation	SNP	ENST00000597853.1	37	c.76C>T	CCDS33071.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978055	0.34942	.	.	ENSG00000196337	ENST00000377280;ENST00000356213	T;T	0.58940	0.3;0.3	2.0	2.0	0.26442	.	0.282991	0.29431	N	0.012168	T	0.71281	0.3321	.	.	.	0.39410	D	0.966732	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.984	T	0.75105	-0.3435	9	0.66056	D	0.02	-19.7211	10.0962	0.42478	0.0:0.0:1.0:0.0	.	24;56	F5H162;A6NKQ9	.;CGB1_HUMAN	W	26;24	ENSP00000366493:R26W;ENSP00000348545:R24W	ENSP00000348545:R24W	R	-	1	2	CGB7	54250017	0.925000	0.31364	0.751000	0.31187	0.025000	0.11179	0.924000	0.28777	1.442000	0.47568	0.194000	0.17425	CGG		0.652	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142		19	57	0	0	0	1	0	19	57				
BTN1A1	696	broad.mit.edu	37	6	26509216	26509216	+	Silent	SNP	C	C	T	rs141533174	byFrequency	TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:26509216C>T	ENST00000244513.6	+	7	1461	c.1395C>T	c.(1393-1395)agC>agT	p.S465S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	465	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TATGGTCTAGCGGTAAAAAGC	0.493													C|||	12	0.00239617	0.0091	0.0	5008	,	,		17991	0.0		0.0	False		,,,				2504	0.0					ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(1393-1395)agC>agT		butyrophilin, subfamily 1, member A1		C		21,4385	28.1+/-56.4	0,21,2182	75.0	72.0	73.0		1395	0.6	1.0	6	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	BTN1A1	NM_001732.2		0,21,6482	TT,TC,CC		0.0,0.4766,0.1615		465/527	26509216	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26509216C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1395C>T	6.37:g.26509216C>T							p.S465S	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			7	1461	+			465			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.1395C>T	CCDS4614.1																																																																																				0.493	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		4	62	0	0	0	1	0	4	62				
UTP20	27340	broad.mit.edu	37	12	101766716	101766716	+	Silent	SNP	T	T	C			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr12:101766716T>C	ENST00000261637.4	+	52	7027	c.6853T>C	c.(6853-6855)Ttg>Ctg	p.L2285L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2285					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGACCAAACTTGGAATTCAT	0.408																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6853-6855)Ttg>Ctg		UTP20, small subunit (SSU) processome component, homolog (yeast)							114.0	106.0	109.0					12																	101766716		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101766716T>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6853T>C	12.37:g.101766716T>C							p.L2285L	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			52	7027	+			2285					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6853T>C	CCDS9081.1																																																																																				0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		4	33	0	0	0	1	0	4	33				
TRPC7	57113	broad.mit.edu	37	5	135561808	135561808	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:135561808T>G	ENST00000513104.1	-	9	2458	c.2176A>C	c.(2176-2178)Aag>Cag	p.K726Q	TRPC7_ENST00000355180.3_Missense_Mutation_p.K665Q|TRPC7_ENST00000426057.2_Missense_Mutation_p.K610Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	726					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCACATCTTGATTCTCATT	0.378																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(2176-2178)Aag>Cag		transient receptor potential cation channel, subfamily C, member 7							77.0	70.0	72.0					5																	135561808		1867	4095	5962	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135561808T>G	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2176A>C	5.37:g.135561808T>G	ENSP00000426070:p.Lys726Gln					TRPC7_ENST00000426057.2_Missense_Mutation_p.K610Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.K665Q	p.K726Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	2458	-			726					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.2176A>C	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.418671|4.418671	0.83559|0.83559	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.85773|.	-2.03;-2.03;-2.03|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63414|0.63414	0.2509|0.2509	L|L	0.52126|0.52126	1.63|1.63	0.42859|0.42859	D|D	0.994105|0.994105	P;B;B;B|.	0.37985|.	0.613;0.186;0.382;0.382|.	B;B;B;B|.	0.41466|.	0.358;0.182;0.206;0.146|.	T|T	0.62272|0.62272	-0.6889|-0.6889	10|5	0.38643|.	T|.	0.18|.	-24.4053|-24.4053	14.8563|14.8563	0.70341|0.70341	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	610;665;671;726|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	Q|P	665;610;726;726|609;664;670	ENSP00000347312:K665Q;ENSP00000441628:K610Q;ENSP00000426070:K726Q|.	ENSP00000265193:K726Q|.	K|Q	-|-	1|2	0|0	TRPC7|TRPC7	135589707|135589707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.093000|7.093000	0.76937|0.76937	2.094000|2.094000	0.63399|0.63399	0.482000|0.482000	0.46254|0.46254	AAG|CAA		0.378	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		3	8	0	0	0	1	0	3	8				
CPEB3	22849	broad.mit.edu	37	10	93999536	93999536	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:93999536C>A	ENST00000265997.4	-	2	744	c.572G>T	c.(571-573)cGc>cTc	p.R191L	CPEB3_ENST00000412050.4_Missense_Mutation_p.R191L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	191	Ala-rich.|Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGCGGGTGAgcggcgctgctg	0.771																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(571-573)cGc>cTc		cytoplasmic polyadenylation element binding protein 3							2.0	3.0	2.0					10																	93999536		1480	3117	4597	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93999536C>A	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.572G>T	10.37:g.93999536C>A	ENSP00000265997:p.Arg191Leu					CPEB3_ENST00000265997.4_Missense_Mutation_p.R191L	p.R191L	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	660	-		Colorectal(252;0.0869)	191			Ala-rich.|Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.572G>T	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310126	0.60414	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.56103	0.49;0.48	3.51	2.6	0.31112	.	0.055645	0.64402	D	0.000002	T	0.39436	0.1078	L	0.32530	0.975	0.47698	D	0.999495	P;P;P	0.41748	0.649;0.649;0.761	B;B;B	0.38458	0.141;0.184;0.274	T	0.31223	-0.9951	10	0.52906	T	0.07	-1.5612	11.1328	0.48358	0.0:0.9079:0.0:0.0921	.	191;191;191	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	L	191	ENSP00000398310:R191L;ENSP00000265997:R191L	ENSP00000265997:R191L	R	-	2	0	CPEB3	93989516	1.000000	0.71417	0.945000	0.38365	0.618000	0.37518	5.429000	0.66495	0.815000	0.34398	0.462000	0.41574	CGC		0.771	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		2	1	1	0	0.0784	1	0.0804103	2	1				
ME1	4199	broad.mit.edu	37	6	83963441	83963441	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:83963441G>A	ENST00000369705.3	-	7	837	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	ME1_ENST00000541327.1_Missense_Mutation_p.L75F|ME1_ENST00000543031.1_Missense_Mutation_p.L166F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	241					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		AACTGAATAAGGCAATTCATG	0.308																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(721-723)Ctt>Ttt		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						121.0	110.0	114.0					6																	83963441		2203	4299	6502	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83963441G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.721C>T	6.37:g.83963441G>A	ENSP00000358719:p.Leu241Phe					ME1_ENST00000543031.1_Missense_Mutation_p.L166F|ME1_ENST00000541327.1_Missense_Mutation_p.L75F	p.L241F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	7	837	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	241					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.721C>T	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115525	0.77323	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.48522	0.81;0.81;0.81	5.53	5.53	0.82687	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70063	-0.4975	10	0.87932	D	0	-21.9779	18.2288	0.89927	0.0:0.0:1.0:0.0	.	241	P48163	MAOX_HUMAN	F	241;75;166	ENSP00000358719:L241F;ENSP00000439912:L75F;ENSP00000446114:L166F	ENSP00000358719:L241F	L	-	1	0	ME1	84020160	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.870000	0.87175	2.602000	0.87976	0.460000	0.39030	CTT		0.308	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			4	35	0	0	0	1	0	4	35				
POLQ	10721	broad.mit.edu	37	3	121208992	121208992	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:121208992C>G	ENST00000264233.5	-	16	2914	c.2786G>C	c.(2785-2787)aGt>aCt	p.S929T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	929					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTATAAGAACTCTTAGTTTG	0.313								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2785-2787)aGt>aCt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							53.0	51.0	52.0					3																	121208992		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208992C>G	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2786G>C	3.37:g.121208992C>G	ENSP00000264233:p.Ser929Thr						p.S929T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2914	-			929					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2786G>C	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	7.589	0.670348	0.14776	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50001	0.76	5.62	1.84	0.25277	.	1.006310	0.07977	N	0.984911	T	0.35307	0.0927	L	0.29908	0.895	0.09310	N	1	B;B	0.32467	0.19;0.372	B;B	0.33392	0.05;0.163	T	0.25047	-1.0143	10	0.25751	T	0.34	.	8.7172	0.34419	0.0:0.705:0.0:0.295	.	929;101	O75417;O75417-2	DPOLQ_HUMAN;.	T	552;929;1065	ENSP00000264233:S929T	ENSP00000264233:S929T	S	-	2	0	POLQ	122691682	0.000000	0.05858	0.003000	0.11579	0.336000	0.28762	-0.383000	0.07398	0.337000	0.23665	-0.259000	0.10710	AGT		0.313	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		3	29	0	0	0	1	0	3	29				
NRDE2	55051	broad.mit.edu	37	14	90755415	90755415	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr14:90755415C>T	ENST00000354366.3	-	11	2536	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	NRDE2_ENST00000357904.3_Silent_p.K537K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	768																	TAAGGAGATTCTTGGCTAGTT	0.438																																						ENST00000354366.3																			0											c.(2302-2304)aaG>aaA		NRDE-2, necessary for RNA interference, domain containing							186.0	205.0	198.0					14																	90755415		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90755415C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2304G>A	14.37:g.90755415C>T						NRDE2_ENST00000357904.3_Silent_p.K537K	p.K768K	NM_017970.3	NP_060440.2					11	2536	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.2304G>A	CCDS9890.1																																																																																				0.438	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		8	143	0	0	0	1	0	8	143				
KCNS2	3788	broad.mit.edu	37	8	99441254	99441254	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:99441254C>T	ENST00000287042.4	+	2	1397	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	KCNS2_ENST00000521839.1_Silent_p.T349T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	349					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T349T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGGCCTACACCATTGAAAAGG	0.582																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			1	Substitution - coding silent(1)	p.T349T(1)	endometrium(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(1045-1047)acC>acT		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							90.0	81.0	84.0					8																	99441254		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441254C>T	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1047C>T	8.37:g.99441254C>T						KCNS2_ENST00000521839.1_Silent_p.T349T	p.T349T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1397	+	Breast(36;2.4e-06)		349					A8KAN1	Silent	SNP	ENST00000287042.4	37	c.1047C>T	CCDS6279.1																																																																																				0.582	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		4	47	0	0	0	1	0	4	47				
PANX2	56666	broad.mit.edu	37	22	50615615	50615615	+	Silent	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:50615615G>T	ENST00000395842.2	+	2	474	c.474G>T	c.(472-474)ctG>ctT	p.L158L	PANX2_ENST00000159647.5_Silent_p.L158L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	158					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACTTCCTGCTGCAGGAGATCG	0.677																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(472-474)ctG>ctT		pannexin 2							32.0	27.0	29.0					22																	50615615		2200	4295	6495	SO:0001819	synonymous_variant	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615615G>T		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.474G>T	22.37:g.50615615G>T						PANX2_ENST00000159647.5_Silent_p.L158L	p.L158L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	474	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	158					B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	37	c.474G>T	CCDS14085.2																																																																																				0.677	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		4	17	1	0	0.150653	1	0.150653	4	17				
PCIF1	63935	broad.mit.edu	37	20	44576000	44576000	+	Silent	SNP	C	C	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:44576000C>T	ENST00000372409.3	+	16	2170	c.1806C>T	c.(1804-1806)agC>agT	p.S602S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	602					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGAGCAGAGCCGCTTCAAAC	0.617																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1804-1806)agC>agT		PDX1 C-terminal inhibiting factor 1							57.0	52.0	54.0					20																	44576000		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44576000C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1806C>T	20.37:g.44576000C>T						PCIF1_ENST00000479348.1_3'UTR	p.S602S	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			16	2170	+			602					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.1806C>T	CCDS13388.1																																																																																				0.617	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		3	30	0	0	0	1	0	3	30				
TRANK1	9881	broad.mit.edu	37	3	36874403	36874403	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:36874403G>A	ENST00000429976.2	-	21	6786	c.6539C>T	c.(6538-6540)tCg>tTg	p.S2180L	TRANK1_ENST00000301807.6_Missense_Mutation_p.S1630L|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1630L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2180							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTTCATTTTCGACTGAACTAA	0.383																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6538-6540)tCg>tTg		tetratricopeptide repeat and ankyrin repeat containing 1							33.0	32.0	32.0					3																	36874403		1869	4091	5960	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874403G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6539C>T	3.37:g.36874403G>A	ENSP00000416168:p.Ser2180Leu					TRANK1_ENST00000428977.2_Missense_Mutation_p.S1630L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1630L	p.S2180L			O15050	TRNK1_HUMAN			21	6786	-			2180					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6539C>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660934	0.14645	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.30981	1.51;1.92;1.51	5.15	4.28	0.50868	.	0.719065	0.11837	N	0.524602	T	0.19725	0.0474	L	0.29908	0.895	0.28738	N	0.902145	D	0.54772	0.968	B	0.35073	0.195	T	0.05068	-1.0908	10	0.48119	T	0.1	.	10.3726	0.44064	0.0784:0.1712:0.7504:0.0	.	2180	O15050	TRNK1_HUMAN	L	1630;2180;1630	ENSP00000416826:S1630L;ENSP00000416168:S2180L;ENSP00000301807:S1630L	ENSP00000301807:S1630L	S	-	2	0	TRANK1	36849407	0.990000	0.36364	1.000000	0.80357	0.121000	0.20230	2.059000	0.41384	1.325000	0.45301	-0.226000	0.12346	TCG		0.383	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	13	0	0	0	1	0	4	13				
ZNF106	64397	broad.mit.edu	37	15	42742890	42742890	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr15:42742890G>A	ENST00000263805.4	-	2	1837	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	504					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACGCAGTTTGGATATGTAAGG	0.358																																						ENST00000263805.4																			0											c.(1510-1512)tCc>tTc		zinc finger protein 106							204.0	201.0	202.0					15																	42742890		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42742890G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1511C>T	15.37:g.42742890G>A	ENSP00000263805:p.Ser504Phe					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.S504F	NM_022473.1	NP_071918.1					2	1837	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1511C>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253545	0.22965	.	.	ENSG00000103994	ENST00000263805	T	0.58358	0.34	4.99	4.99	0.66335	.	0.550821	0.20687	N	0.087522	T	0.40886	0.1135	L	0.38175	1.15	0.80722	D	1	B;B	0.25563	0.129;0.007	B;B	0.25291	0.059;0.007	T	0.16070	-1.0415	10	0.17369	T	0.5	-0.5067	12.1932	0.54282	0.0784:0.0:0.9216:0.0	.	287;504	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	F	504	ENSP00000263805:S504F	ENSP00000263805:S504F	S	-	2	0	ZFP106	40530182	0.999000	0.42202	0.969000	0.41365	0.243000	0.25628	2.858000	0.48356	2.751000	0.94390	0.543000	0.68304	TCC		0.358	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		17	84	0	0	0	1	0	17	84				
BAGE2	85319	broad.mit.edu	37	21	11038898	11038898	+	RNA	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr21:11038898G>A	ENST00000470054.1	-	0	1305							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAGTCTGAAGAAGGTGTTGG	0.438																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038898G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038898G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1305	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.438	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	233	0	0	0	1	0	6	233				
OLFM3	118427	broad.mit.edu	37	1	102269968	102269968	+	Silent	SNP	G	G	A			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr1:102269968G>A	ENST00000338858.5	-	6	1262	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Silent_p.S401S			Q96PB7	NOE3_HUMAN	olfactomedin 3	421	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGGTTTTGGTGGAATAGGAAT	0.443																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(1201-1203)tcC>tcT		olfactomedin 3							271.0	235.0	247.0					1																	102269968		2203	4300	6503	SO:0001819	synonymous_variant	118427					extracellular region		g.chr1:102269968G>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1263C>T	1.37:g.102269968G>A						OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Silent_p.S421S|OLFM3_ENST00000536598.1_3'UTR	p.S401S	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1416	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	421			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	ENST00000338858.5	37	c.1203C>T																																																																																					0.443	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			8	117	0	0	0	1	0	8	117				
XPA	7507	broad.mit.edu	37	9	100459525	100459525	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:100459525G>T	ENST00000375128.4	-	1	114	c.50C>A	c.(49-51)cCc>cAc	p.P17H	AL445531.1_ENST00000582499.1_RNA	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	17	Interaction with CEP164 and required for UV resistance.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAGCTCCGCGGGTTGCTCTAA	0.731			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group A"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(49-51)cCc>cAc	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							10.0	14.0	12.0					9																	100459525		1996	4021	6017	SO:0001583	missense	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100459525G>T	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.50C>A	9.37:g.100459525G>T	ENSP00000364270:p.Pro17His						p.P17H	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			1	114	-		Acute lymphoblastic leukemia(62;0.158)	17			Interaction with CEP164 and required for UV resistance.		Q5T1U9|Q6LCW7|Q6LD02	Missense_Mutation	SNP	ENST00000375128.4	37	c.50C>A	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678654	0.68042	.	.	ENSG00000136936	ENST00000375128	T	0.60299	0.2	5.02	4.05	0.47172	.	0.553648	0.19496	N	0.112856	T	0.50973	0.1647	L	0.51422	1.61	0.09310	N	1	P	0.45283	0.855	B	0.40901	0.343	T	0.51317	-0.8721	10	0.48119	T	0.1	.	11.769	0.51947	0.0:0.0:0.8241:0.1759	.	17	P23025	XPA_HUMAN	H	17	ENSP00000364270:P17H	ENSP00000364270:P17H	P	-	2	0	XPA	99499346	0.073000	0.21202	0.024000	0.17045	0.633000	0.38033	2.382000	0.44345	2.503000	0.84419	0.462000	0.41574	CCC		0.731	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		3	26	1	0	0.004672	1	0.00505081	3	26				
FITM2	128486	broad.mit.edu	37	20	42935657	42935657	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:42935657delC	ENST00000396825.3	-	2	417	c.397delG	c.(397-399)gaafs	p.E133fs		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	133					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						CTCTGGTGTTCCTTTCTGACC	0.582																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(397-399)aafs		fat storage-inducing transmembrane protein 2							117.0	85.0	96.0					20																	42935657		2203	4300	6503	SO:0001589	frameshift_variant	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935657delC	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.397delG	20.37:g.42935657delC	ENSP00000380037:p.Glu133fs						p.E133fs	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	417	-			133					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Frame_Shift_Del	DEL	ENST00000396825.3	37	c.397delG	CCDS33473.1																																																																																				0.582	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		8	62						8	62	---	---	---	---
