#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
ZNF646	9726	broad.mit.edu	37	16	31087973	31087973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:31087973C>T	ENST00000394979.2	+	1	751	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	ZNF668_ENST00000300849.4_5'Flank|ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.P110S			O15015	ZN646_HUMAN	zinc finger protein 646	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCCCACGCCCCAAGGAAGC	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(328-330)Ccc>Tcc		zinc finger protein 646							35.0	39.0	37.0					16																	31087973		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31087973C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.328C>T	16.37:g.31087973C>T	ENSP00000378429:p.Pro110Ser					ZNF646_ENST00000300850.5_Missense_Mutation_p.P110S	p.P110S			O15015	ZN646_HUMAN			1	751	+			110					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.328C>T		.	.	.	.	.	.	.	.	.	.	C	0.014	-1.583108	0.00872	.	.	ENSG00000167395	ENST00000428260;ENST00000300850;ENST00000394979	T;T;T	0.08546	3.31;3.08;3.1	5.79	1.53	0.23141	.	.	.	.	.	T	0.02767	0.0083	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48364	-0.9042	9	0.11794	T	0.64	-0.4986	5.8754	0.18826	0.0:0.621:0.1424:0.2365	.	110	O15015-2	.	S	110	ENSP00000391271:P110S;ENSP00000300850:P110S;ENSP00000378429:P110S	ENSP00000300850:P110S	P	+	1	0	ZNF646	30995474	0.000000	0.05858	0.015000	0.15790	0.163000	0.22366	-0.518000	0.06267	0.055000	0.16094	-1.008000	0.02478	CCC		0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		12	47	0	0	0	1	0	12	47				
ZNF511	118472	broad.mit.edu	37	10	135123764	135123764	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr10:135123764C>T	ENST00000359035.3	+	4	529	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF511_ENST00000368554.4_Missense_Mutation_p.R111W|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.R176W			Q8NB15	ZN511_HUMAN	zinc finger protein 511	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CGCGGACTTCCGGTTTGATAA	0.512																																						ENST00000359035.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(526-528)Cgg>Tgg		zinc finger protein 511							77.0	81.0	80.0					10																	135123764		2203	4300	6503	SO:0001583	missense	118472				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:135123764C>T	AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.526C>T	10.37:g.135123764C>T	ENSP00000351929:p.Arg176Trp					ZNF511_ENST00000368554.4_Missense_Mutation_p.R111W|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Missense_Mutation_p.R176W	p.R176W			Q8NB15	ZN511_HUMAN		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)	4	529	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	176					A8K8L5|Q8WUP1|Q96BV2	Missense_Mutation	SNP	ENST00000359035.3	37	c.526C>T		.	.	.	.	.	.	.	.	.	.	C	19.03	3.748575	0.69533	.	.	ENSG00000198546	ENST00000361518;ENST00000359035;ENST00000368554	D;D;D	0.88818	-2.43;-2.43;-2.43	5.38	4.46	0.54185	.	0.000000	0.85682	D	0.000000	D	0.94377	0.8192	M	0.86268	2.805	0.48288	D	0.999629	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.967	D	0.94649	0.7837	10	0.72032	D	0.01	-9.3436	13.9054	0.63831	0.0:0.9208:0.0:0.0792	.	176;176	Q8NB15;Q8NB15-2	ZN511_HUMAN;.	W	176;176;111	ENSP00000355251:R176W;ENSP00000351929:R176W;ENSP00000357542:R111W	ENSP00000351929:R176W	R	+	1	2	ZNF511	134973754	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	4.252000	0.58785	2.701000	0.92244	0.655000	0.94253	CGG		0.512	ZNF511-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051143.1	NM_145806		24	83	0	0	0	1	0	24	83				
AGO4	192670	broad.mit.edu	37	1	36291346	36291346	+	Silent	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:36291346C>A	ENST00000373210.3	+	5	800	c.555C>A	c.(553-555)ggC>ggA	p.G185G		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	185					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TGGGAGGGGGCAGGGAGGTCT	0.478																																						ENST00000373210.3																			0											c.(553-555)ggC>ggA		argonaute RISC catalytic component 4							150.0	155.0	153.0					1																	36291346		2203	4300	6503	SO:0001819	synonymous_variant	192670							g.chr1:36291346C>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.555C>A	1.37:g.36291346C>A							p.G185G	NM_017629.3	NP_060099.2					5	800	+								A7MD27	Silent	SNP	ENST00000373210.3	37	c.555C>A	CCDS397.1																																																																																				0.478	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		10	147	1	0	0.000673444	1	0.00069406	10	147				
ARMC5	79798	broad.mit.edu	37	16	31473893	31473893	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:31473893C>T	ENST00000563544.1	+	4	1571	c.1025C>T	c.(1024-1026)cCa>cTa	p.P342L	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.P342L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P437L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P374L|ARMC5_ENST00000457010.2_Missense_Mutation_p.P342L|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	342										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAGCTAGCCCAACCTCCCAG	0.647																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1024-1026)cCa>cTa		armadillo repeat containing 5							38.0	43.0	42.0					16																	31473893		2002	4158	6160	SO:0001583	missense	79798						binding	g.chr16:31473893C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1025C>T	16.37:g.31473893C>T	ENSP00000456877:p.Pro342Leu					ARMC5_ENST00000563544.1_Missense_Mutation_p.P342L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.P342L|ARMC5_ENST00000408912.3_Missense_Mutation_p.P437L|ARMC5_ENST00000538189.1_Missense_Mutation_p.P374L	p.P342L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1726	+			342					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1025C>T	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	9.904	1.207792	0.22205	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	4.8	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.059948	0.64402	D	0.000001	T	0.28034	0.0691	L	0.46157	1.445	0.80722	D	1	B;B;B;P	0.51933	0.241;0.447;0.241;0.949	B;B;B;P	0.49192	0.139;0.21;0.102;0.602	T	0.01617	-1.1311	10	0.44086	T	0.13	-11.0554	15.3447	0.74327	0.0:1.0:0.0:0.0	.	374;437;342;342	F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;ARMC5_HUMAN;.	L	437;374;342;342	ENSP00000386125:P437L;ENSP00000443995:P374L;ENSP00000268314:P342L;ENSP00000399561:P342L	ENSP00000268314:P342L	P	+	2	0	ARMC5	31381394	0.041000	0.20044	0.029000	0.17559	0.025000	0.11179	1.914000	0.39966	2.217000	0.71921	0.457000	0.33378	CCA		0.647	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		14	37	0	0	0	1	0	14	37				
ABCB1	5243	broad.mit.edu	37	7	87138751	87138751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:87138751C>T	ENST00000265724.3	-	27	3746	c.3329G>A	c.(3328-3330)cGa>cAa	p.R1110Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R1046Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1110	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAGGTGTGCTCGGAGCCACTG	0.502																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3328-3330)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						117.0	109.0	111.0					7																	87138751		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87138751C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3329G>A	7.37:g.87138751C>T	ENSP00000265724:p.Arg1110Gln					ABCB1_ENST00000543898.1_Missense_Mutation_p.R1046Q|ABCB1_ENST00000488737.2_5'UTR	p.R1110Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			27	3746	-	Esophageal squamous(14;0.00164)		1110			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3329G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	36	5.941642	0.97128	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94613	-3.47;-3.47	6.06	6.06	0.98353	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.054212	0.64402	D	0.000001	D	0.97445	0.9164	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97498	1.0058	10	0.87932	D	0	-3.9106	19.6164	0.95636	0.0:1.0:0.0:0.0	.	1046;1110	B5AK60;P08183	.;MDR1_HUMAN	Q	891;1110;1046	ENSP00000265724:R1110Q;ENSP00000444095:R1046Q	ENSP00000265724:R1110Q	R	-	2	0	ABCB1	86976687	1.000000	0.71417	0.908000	0.35775	0.997000	0.91878	7.810000	0.86072	2.871000	0.98454	0.655000	0.94253	CGA		0.502	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		18	67	0	0	0	1	0	18	67				
MTIF3	219402	broad.mit.edu	37	13	28014281	28014281	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr13:28014281C>T	ENST00000381116.1	-	5	539	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	MTIF3_ENST00000405591.2_Missense_Mutation_p.R102Q|MTIF3_ENST00000381120.3_Missense_Mutation_p.R102Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000431572.2_Missense_Mutation_p.R102Q			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	102					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CACATTTGCTCGGTGCATGTT	0.413																																						ENST00000381116.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(304-306)cGa>cAa		mitochondrial translational initiation factor 3							169.0	153.0	159.0					13																	28014281		2203	4300	6503	SO:0001583	missense	219402				regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity	g.chr13:28014281C>T	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633	ENST00000381116.1:c.305G>A	13.37:g.28014281C>T	ENSP00000370508:p.Arg102Gln					MTIF3_ENST00000431572.2_Missense_Mutation_p.R102Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.R102Q|MTIF3_ENST00000405591.2_Missense_Mutation_p.R102Q	p.R102Q			Q9H2K0	IF3M_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)	5	539	-		Lung SC(185;0.0161)	102					Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	ENST00000381116.1	37	c.305G>A	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150472	0.94645	.	.	ENSG00000122033	ENST00000431572;ENST00000405591;ENST00000381116;ENST00000381120	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.82	4.98	0.66077	Translation initiation factor 3, N-terminal (3);	0.062472	0.64402	N	0.000003	T	0.54498	0.1862	M	0.79475	2.455	0.58432	D	0.999994	D	0.67145	0.996	P	0.56343	0.796	T	0.56836	-0.7913	10	0.34782	T	0.22	-16.8965	15.1981	0.73112	0.0:0.932:0.0:0.068	.	102	Q9H2K0	IF3M_HUMAN	Q	102	ENSP00000400084:R102Q;ENSP00000384659:R102Q;ENSP00000370508:R102Q;ENSP00000370512:R102Q	ENSP00000370508:R102Q	R	-	2	0	MTIF3	26912281	1.000000	0.71417	0.909000	0.35828	0.956000	0.61745	5.665000	0.68052	1.462000	0.47948	0.655000	0.94253	CGA		0.413	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		21	107	0	0	0	1	0	21	107				
FN1	2335	broad.mit.edu	37	2	216248067	216248067	+	Silent	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:216248067A>C	ENST00000359671.1	-	30	5026	c.4761T>G	c.(4759-4761)acT>acG	p.T1587T	FN1_ENST00000323926.6_Silent_p.T1678T|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Silent_p.T1678T|FN1_ENST00000336916.4_Silent_p.T1587T|FN1_ENST00000346544.3_Silent_p.T1587T|FN1_ENST00000357009.2_Silent_p.T1587T|FN1_ENST00000421182.1_Silent_p.T1587T|FN1_ENST00000345488.5_Silent_p.T1587T|FN1_ENST00000357867.4_Silent_p.T1587T|FN1_ENST00000446046.1_Silent_p.T1587T|FN1_ENST00000356005.4_Silent_p.T1587T|FN1_ENST00000443816.1_Silent_p.T1587T|FN1_ENST00000354785.4_Silent_p.T1678T			P02751	FINC_HUMAN	fibronectin 1	1587	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGCAGTTTTAGTTTTTGTTG	0.502																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(5032-5034)acT>acG		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						249.0	179.0	203.0					2																	216248067		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216248067A>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4761T>G	2.37:g.216248067A>C						FN1_ENST00000446046.1_Silent_p.T1587T|FN1_ENST00000443816.1_Silent_p.T1587T|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000432072.2_Silent_p.T1678T|FN1_ENST00000323926.6_Silent_p.T1678T|FN1_ENST00000359671.1_Silent_p.T1587T|FN1_ENST00000357867.4_Silent_p.T1587T|FN1_ENST00000357009.2_Silent_p.T1587T|FN1_ENST00000356005.4_Silent_p.T1587T|FN1_ENST00000346544.3_Silent_p.T1587T|FN1_ENST00000345488.5_Silent_p.T1587T|FN1_ENST00000336916.4_Silent_p.T1587T|FN1_ENST00000421182.1_Silent_p.T1587T	p.T1678T			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	31	5403	-		Renal(323;0.127)	1678			Fibronectin type-III 12; extra domain.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.5034T>G																																																																																					0.502	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		28	96	0	0	0	1	0	28	96				
MAP2K7	5609	broad.mit.edu	37	19	7976464	7976464	+	Splice_Site	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:7976464G>T	ENST00000397979.3	+	9	1133		c.e9+1		MAP2K7_ENST00000397981.3_Splice_Site|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|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 neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						TCAAAGACTGGTGAGAACCTC	0.632																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.e9+1		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						17.0	19.0	18.0					19																	7976464		1949	4116	6065	SO:0001630	splice_region_variant	5609				activation of JUN kinase activity|innate immune response|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7976464G>T	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.1079+1G>T	19.37:g.7976464G>T						MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site				O14733	MP2K7_HUMAN			9	1270	+								B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Splice_Site	SNP	ENST00000397979.3	37		CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099144	0.76983	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8465	0.70264	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K7	7882464	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.519000	0.81809	2.423000	0.82170	0.655000	0.94253	.		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		Intron	3	10	1	0	0.004672	1	0.00476638	3	10				
C19orf44	84167	broad.mit.edu	37	19	16631002	16631002	+	3'UTR	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:16631002G>A	ENST00000221671.3	+	0	2268				CHERP_ENST00000198939.6_Missense_Mutation_p.P818L|CHERP_ENST00000546361.2_Missense_Mutation_p.P807L|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TCTTCTTCCTGGGGAGTACGA	0.647																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(2419-2421)cCa>cTa		calcium homeostasis endoplasmic reticulum protein							44.0	51.0	49.0					19																	16631002		1940	4127	6067	SO:0001624	3_prime_UTR_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16631002G>A	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*138G>A	19.37:g.16631002G>A						C19orf44_ENST00000221671.3_3'UTR|CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.P818L|CHERP_ENST00000544299.1_5'UTR	p.P807L	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			15	2571	-			807			Arg-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2420C>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353921	0.41700	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.21191	2.02;2.02	4.84	3.81	0.43845	.	.	.	.	.	T	0.21550	0.0519	L	0.53249	1.67	0.58432	D	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.03240	-1.1057	9	0.52906	T	0.07	-8.3504	11.7079	0.51607	0.0862:0.0:0.9138:0.0	.	807	Q8IWX8	CHERP_HUMAN	L	807;818	ENSP00000439856:P807L;ENSP00000198939:P818L	ENSP00000198939:P818L	P	-	2	0	CHERP	16492002	1.000000	0.71417	0.667000	0.29798	0.305000	0.27757	8.360000	0.90095	1.020000	0.39573	0.561000	0.74099	CCA		0.647	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		8	71	0	0	0	1	0	8	71				
PDE10A	10846	broad.mit.edu	37	6	165756893	165756893	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:165756893T>C	ENST00000366882.1	-	20	2208	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	PDE10A_ENST00000354448.4_Missense_Mutation_p.E685G|PDE10A_ENST00000539869.2_Missense_Mutation_p.E695G			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	685					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGCCCAGAATTCTGCATATAT	0.378																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2053-2055)gAa>gGa		phosphodiesterase 10A	Dipyridamole(DB00975)						115.0	111.0	112.0					6																	165756893		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165756893T>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2054A>G	6.37:g.165756893T>C	ENSP00000355847:p.Glu685Gly					PDE10A_ENST00000539869.2_Missense_Mutation_p.E695G|PDE10A_ENST00000354448.4_Missense_Mutation_p.E685G	p.E685G			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	20	2208	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	685					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2054A>G		.	.	.	.	.	.	.	.	.	.	T	27.8	4.866755	0.91511	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.91068	-2.78;-2.78	5.67	5.67	0.87782	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96567	0.9420	10	0.87932	D	0	.	15.57	0.76326	0.0:0.0:0.0:1.0	.	695;685	Q9ULW9;Q9Y233	.;PDE10_HUMAN	G	685;713;695;685;684	ENSP00000355847:E685G;ENSP00000346435:E685G	ENSP00000341187:E695G	E	-	2	0	PDE10A	165676883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.305000	0.78891	2.158000	0.67659	0.477000	0.44152	GAA		0.378	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			13	52	0	0	0	1	0	13	52				
COASY	80347	broad.mit.edu	37	17	40714726	40714726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:40714726C>A	ENST00000393818.2	+	1	542	c.86C>A	c.(85-87)gCg>gAg	p.A29E	COASY_ENST00000590958.1_Missense_Mutation_p.A58E|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Missense_Mutation_p.A29E|COASY_ENST00000421097.2_Missense_Mutation_p.A29E|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	29					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGACCTCGGCGGCCCGGCTG	0.692																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(85-87)gCg>gAg		CoA synthase							33.0	39.0	37.0					17																	40714726		2203	4297	6500	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714726C>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.86C>A	17.37:g.40714726C>A	ENSP00000377406:p.Ala29Glu					COASY_ENST00000590958.1_Missense_Mutation_p.A58E|COASY_ENST00000421097.2_Missense_Mutation_p.A29E|COASY_ENST00000420359.1_Missense_Mutation_p.A29E|COASY_ENST00000449624.1_Intron	p.A29E	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	542	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	29					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.86C>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	C	33	5.266681	0.95399	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.38722	1.12;1.12	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.985	T	0.56541	-0.7962	10	0.72032	D	0.01	-28.2886	17.3524	0.87327	0.0:1.0:0.0:0.0	.	58;29	Q13057-2;Q13057	.;COASY_HUMAN	E	58;29;29;29	ENSP00000413338:A29E;ENSP00000377406:A29E	ENSP00000377406:A29E	A	+	2	0	COASY	37968252	1.000000	0.71417	0.929000	0.37066	0.698000	0.40448	6.888000	0.75622	2.701000	0.92244	0.462000	0.41574	GCG		0.692	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		12	67	1	0	6.40141e-05	1	6.87811e-05	12	67				
SLC14A1	6563	broad.mit.edu	37	18	43329753	43329753	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:43329753C>G	ENST00000321925.4	+	10	1239	c.1007C>G	c.(1006-1008)cCa>cGa	p.P336R	SLC14A1_ENST00000535474.1_Missense_Mutation_p.P204R|SLC14A1_ENST00000591541.1_Missense_Mutation_p.P40R|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287E|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P336R|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P231R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P228R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	336					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTGGATTGCCAGCTTGTACC	0.493																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1006-1008)cCa>cGa		solute carrier family 14 (urea transporter), member 1							164.0	137.0	147.0					18																	43329753		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43329753C>G	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.1007C>G	18.37:g.43329753C>G	ENSP00000318546:p.Pro336Arg					SLC14A1_ENST00000402943.2_Missense_Mutation_p.P231R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P228R|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P392R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P204R|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Q287E|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P336R|SLC14A1_ENST00000591541.1_Missense_Mutation_p.P40R	p.P336R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN			10	1239	+			336					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.1007C>G	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860387	0.71834	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.83289	0.5222	H	0.95187	3.635	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.999	D	0.88151	0.2851	10	0.87932	D	0	-12.9456	16.882	0.86065	0.0:1.0:0.0:0.0	.	392;228;336	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	R	336;392;228;231;204;392	ENSP00000318546:P336R;ENSP00000412309:P392R;ENSP00000442180:P228R;ENSP00000385320:P231R;ENSP00000441998:P204R;ENSP00000390637:P392R	ENSP00000318546:P336R	P	+	2	0	SLC14A1	41583751	1.000000	0.71417	0.904000	0.35570	0.595000	0.36748	6.108000	0.71522	2.644000	0.89710	0.591000	0.81541	CCA		0.493	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		16	69	0	0	0	1	0	16	69				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	50	0	0	0	1	0	7	50				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	80	0	0	0	1	0	9	80				
PCLO	27445	broad.mit.edu	37	7	82585749	82585749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:82585749C>A	ENST00000333891.9	-	5	4857	c.4520G>T	c.(4519-4521)aGa>aTa	p.R1507I	PCLO_ENST00000423517.2_Missense_Mutation_p.R1507I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R1507K(2)|p.R1438K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATAAGGCTCTCTTCTAGTAGT	0.383																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.R1507K(2)|p.R1438K(1)	lung(3)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4519-4521)aGa>aTa		piccolo presynaptic cytomatrix protein							118.0	108.0	111.0					7																	82585749		1861	4094	5955	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585749C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4520G>T	7.37:g.82585749C>A	ENSP00000334319:p.Arg1507Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.R1507I	p.R1507I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	4857	-			1438						Missense_Mutation	SNP	ENST00000333891.9	37	c.4520G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	6.122	0.390771	0.11581	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19806	2.12;2.12	5.24	4.36	0.52297	.	.	.	.	.	T	0.26340	0.0643	M	0.63843	1.955	0.40594	D	0.981518	P;P	0.49090	0.919;0.919	B;B	0.43575	0.424;0.424	T	0.12372	-1.0550	9	0.87932	D	0	.	13.2349	0.59965	0.0:0.9234:0.0:0.0766	.	1507;1507	Q9Y6V0-5;Q9Y6V0-6	.;.	I	1438;1507;1507	ENSP00000334319:R1507I;ENSP00000388393:R1507I	ENSP00000334319:R1507I	R	-	2	0	PCLO	82423685	0.881000	0.30235	0.292000	0.24919	0.288000	0.27193	1.440000	0.35024	2.455000	0.83008	0.655000	0.94253	AGA		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	43	1	0	0.00010058	1	0.000106932	12	43				
PTH2R	5746	broad.mit.edu	37	2	209293016	209293016	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:209293016C>A	ENST00000272847.2	+	2	379	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	56					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CACAGCTCAACTCCAGGAGGG	0.438																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(166-168)Ctc>Atc		parathyroid hormone 2 receptor							101.0	83.0	89.0					2																	209293016		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209293016C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.166C>A	2.37:g.209293016C>A	ENSP00000272847:p.Leu56Ile					PTH2R_ENST00000413482.1_3'UTR	p.L56I	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	2	379	+			56					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.166C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624807	0.28889	.	.	ENSG00000144407	ENST00000272847	T	0.55588	0.51	5.28	3.43	0.39272	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.43853	0.1266	L	0.52759	1.655	0.25072	N	0.990987	B	0.09022	0.002	B	0.09377	0.004	T	0.30208	-0.9986	9	0.22109	T	0.4	.	8.9875	0.36003	0.1468:0.7729:0.0:0.0803	.	56	P49190	PTH2R_HUMAN	I	56	ENSP00000272847:L56I	ENSP00000272847:L56I	L	+	1	0	PTH2R	209001261	0.538000	0.26394	0.981000	0.43875	0.995000	0.86356	1.384000	0.34396	0.686000	0.31488	0.591000	0.81541	CTC		0.438	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		7	16	1	0	2.0095e-06	1	2.20608e-06	7	16				
PRPF4B	8899	broad.mit.edu	37	6	4032971	4032971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:4032971G>C	ENST00000337659.6	+	2	1320	c.1220G>C	c.(1219-1221)aGa>aCa	p.R407T	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R393T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	407	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCAGAGAGGAGACGACTTTCT	0.433																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1219-1221)aGa>aCa		pre-mRNA processing factor 4B							63.0	71.0	68.0					6																	4032971		2200	4297	6497	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032971G>C	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1220G>C	6.37:g.4032971G>C	ENSP00000337194:p.Arg407Thr					PRPF4B_ENST00000538861.1_Missense_Mutation_p.R393T	p.R407T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	1320	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	407			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1220G>C	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679110	0.47886	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70282	-0.47;-0.45	5.65	4.78	0.61160	.	0.072433	0.56097	D	0.000028	T	0.52901	0.1763	L	0.55990	1.75	0.45427	D	0.998407	B	0.17667	0.023	B	0.15870	0.014	T	0.52571	-0.8558	10	0.33141	T	0.24	.	14.0063	0.64465	0.0722:0.0:0.9278:0.0	.	407	Q13523	PRP4B_HUMAN	T	407;393	ENSP00000337194:R407T;ENSP00000439331:R393T	ENSP00000337194:R407T	R	+	2	0	PRPF4B	3977970	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.305000	0.51873	2.665000	0.90641	0.585000	0.79938	AGA		0.433	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			19	80	0	0	0	1	0	19	80				
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	G	A	rs375154586		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:14798938G>A	ENST00000253697.3	+	13	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	667						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGACTGCCCGCTGGTGCTGC	0.672																																						ENST00000253697.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(1999-2001)ccG>ccA		chromosome 3 open reading frame 20							44.0	44.0	44.0					3																	14798938		2203	4300	6503	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14798938G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2001G>A	3.37:g.14798938G>A						C3orf20_ENST00000435614.1_Silent_p.P545P|C3orf20_ENST00000412910.1_Silent_p.P545P	p.P667P	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			13	2453	+			667					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.2001G>A	CCDS33706.1																																																																																				0.672	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		10	26	0	0	0	1	0	10	26				
UPP2	151531	broad.mit.edu	37	2	158962650	158962650	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:158962650G>A	ENST00000005756.4	+	2	296	c.102G>A	c.(100-102)ttG>ttA	p.L34L	UPP2_ENST00000409859.4_Silent_p.L91L|UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Silent_p.L91L	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	34					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	ACTTGGATTTGATGGATGAAG	0.308																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(271-273)ttG>ttA		uridine phosphorylase 2							84.0	81.0	82.0					2																	158962650		2203	4299	6502	SO:0001819	synonymous_variant	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158962650G>A	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.102G>A	2.37:g.158962650G>A						UPP2_ENST00000005756.4_Silent_p.L34L|UPP2_ENST00000409859.4_Silent_p.L91L|UPP2_ENST00000460456.1_3'UTR	p.L91L			O95045	UPP2_HUMAN			5	319	+			34					B3KV87	Silent	SNP	ENST00000005756.4	37	c.273G>A	CCDS2207.1																																																																																				0.308	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		6	19	0	0	0	1	0	6	19				
GIGYF2	26058	broad.mit.edu	37	2	233651883	233651883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr2:233651883G>T	ENST00000409547.1	+	11	867	c.556G>T	c.(556-558)Gga>Tga	p.G186*	GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.G17*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	186	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAGGAAGGTGGACCAACATC	0.388																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(622-624)Gga>Tga		GRB10 interacting GYF protein 2							86.0	89.0	88.0					2																	233651883		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233651883G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.556G>T	2.37:g.233651883G>T	ENSP00000386537:p.Gly186*					GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.G17*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.G208*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.G186*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.G186*	p.G208*			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	10	819	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	186			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.622G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	37	6.153548	0.97329	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	.	.	.	5.63	5.63	0.86233	.	0.183960	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.0271	20.0345	0.97552	0.0:0.0:1.0:0.0	.	.	.	.	X	208;135;186;208;186;186;135;186;208;186;17;17;13	.	ENSP00000362664:G186X	G	+	1	0	GIGYF2	233360127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.299000	0.78831	2.797000	0.96272	0.655000	0.94253	GGA		0.388	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		11	47	1	0	2.27111e-07	1	2.60662e-07	11	47				
TANGO2	128989	broad.mit.edu	37	22	20041042	20041042	+	Silent	SNP	C	C	T	rs199862988		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:20041042C>T	ENST00000327374.4	+	5	526	c.348C>T	c.(346-348)taC>taT	p.Y116Y	TANGO2_ENST00000434570.2_Silent_p.Y157Y|TANGO2_ENST00000456048.1_Silent_p.Y121Y|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000447208.2_Silent_p.Y116Y|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000401833.1_Silent_p.Y157Y	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	116																	GCCATCTGTACAATGGCTTCA	0.592																																						ENST00000327374.4																			0											c.(346-348)taC>taT		transport and golgi organization 2 homolog (Drosophila)							139.0	101.0	114.0					22																	20041042		2203	4300	6503	SO:0001819	synonymous_variant	128989							g.chr22:20041042C>T		CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.348C>T	22.37:g.20041042C>T						TANGO2_ENST00000401833.1_Silent_p.Y157Y|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000456048.1_Silent_p.Y121Y|TANGO2_ENST00000447208.2_Silent_p.Y116Y|TANGO2_ENST00000434570.2_Silent_p.Y157Y|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000420290.2_Intron	p.Y116Y	NM_152906.4	NP_690870.3					5	526	+								A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	ENST00000327374.4	37	c.348C>T	CCDS13772.1																																																																																				0.592	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318689.2	NM_152906		7	42	0	0	0	1	0	7	42				
MEP1B	4225	broad.mit.edu	37	18	29793353	29793353	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:29793353G>A	ENST00000269202.6	+	11	1457	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	MEP1B_ENST00000581447.1_Silent_p.V470V	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	470	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAGCCCATGTGACTAATGCAG	0.418																																						ENST00000269202.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1408-1410)gtG>gtA		meprin A, beta							77.0	70.0	72.0					18																	29793353		1893	4106	5999	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29793353G>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1410G>A	18.37:g.29793353G>A						MEP1B_ENST00000581447.1_Silent_p.V470V	p.V470V	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN			11	1457	+			470			MATH.		B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.1410G>A	CCDS45846.1																																																																																				0.418	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925		8	24	0	0	0	1	0	8	24				
AKAP13	11214	broad.mit.edu	37	15	86189094	86189094	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:86189094C>G	ENST00000394518.2	+	10	4378	c.4283C>G	c.(4282-4284)tCa>tGa	p.S1428*	AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1428*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1428					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGTGTACCTCAAAACAAGGT	0.383																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4282-4284)tCa>tGa		A kinase (PRKA) anchor protein 13							150.0	133.0	139.0					15																	86189094		2202	4299	6501	SO:0001587	stop_gained	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86189094C>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4283C>G	15.37:g.86189094C>G	ENSP00000378026:p.Ser1428*					RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1428*	p.S1428*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			10	4378	+			1428					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	ENST00000394518.2	37	c.4283C>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	42	9.189168	0.99094	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000452008	.	.	.	5.26	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.42695	D	0.993598	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.4766	0.50302	0.0:0.9177:0.0:0.0823	.	.	.	.	X	1428;1428;1427;1427;68	.	ENSP00000354718:S1428X	S	+	2	0	AKAP13	83990098	0.975000	0.34042	0.003000	0.11579	0.509000	0.34042	2.813000	0.48002	1.448000	0.47680	0.655000	0.94253	TCA		0.383	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		25	58	0	0	0	1	0	25	58				
FZD6	8323	broad.mit.edu	37	8	104337639	104337639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:104337639C>G	ENST00000358755.4	+	4	1622	c.1305C>G	c.(1303-1305)taC>taG	p.Y435*	FZD6_ENST00000540287.1_Nonsense_Mutation_p.Y130*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Y403*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Y435*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	435					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCGGATGTTACGTCTATGAGC	0.418																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1303-1305)taC>taG		frizzled family receptor 6							150.0	128.0	136.0					8																	104337639		2203	4300	6503	SO:0001587	stop_gained	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337639C>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1305C>G	8.37:g.104337639C>G	ENSP00000351605:p.Tyr435*					FZD6_ENST00000540287.1_Nonsense_Mutation_p.Y130*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.Y403*|FZD6_ENST00000522566.1_Nonsense_Mutation_p.Y435*	p.Y435*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	1622	+			435					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Nonsense_Mutation	SNP	ENST00000358755.4	37	c.1305C>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758513	0.96898	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	.	.	.	6.03	-7.36	0.01417	.	0.056844	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5187	0.95176	0.0:0.3263:0.0:0.6737	.	.	.	.	X	435;435;403;130;380	.	ENSP00000351605:Y435X	Y	+	3	2	FZD6	104406815	0.013000	0.17824	0.145000	0.22337	0.947000	0.59692	-0.823000	0.04443	-1.507000	0.01803	-0.259000	0.10710	TAC		0.418	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		32	140	0	0	0	1	0	32	140				
PIK3CA	5290	broad.mit.edu	37	3	178952065	178952065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:178952065G>A	ENST00000263967.3	+	21	3277	c.3120G>A	c.(3118-3120)atG>atA	p.M1040I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1040	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1040I(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGTATTTCATGAAACAAATGA	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.M1040I(2)	haematopoietic_and_lymphoid_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3118-3120)atG>atA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							96.0	85.0	89.0					3																	178952065		1896	4126	6022	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952065G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3120G>A	3.37:g.178952065G>A	ENSP00000263967:p.Met1040Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1040I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3277	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1040			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3120G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465705	0.43839	.	.	ENSG00000121879	ENST00000263967	T	0.80123	-1.34	6.08	5.2	0.72013	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.092427	0.85682	D	0.000000	T	0.65657	0.2712	N	0.05467	-0.045	0.80722	D	1	B	0.19331	0.035	B	0.19391	0.025	T	0.62020	-0.6942	10	0.42905	T	0.14	-8.843	14.5091	0.67772	0.0708:0.0:0.9292:0.0	.	1040	P42336	PK3CA_HUMAN	I	1040	ENSP00000263967:M1040I	ENSP00000263967:M1040I	M	+	3	0	PIK3CA	180434759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	1.557000	0.49525	0.591000	0.81541	ATG		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			23	72	0	0	0	1	0	23	72				
CNBD2	140894	broad.mit.edu	37	20	34596245	34596245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:34596245G>A	ENST00000373973.3	+	9	1170	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	CNBD2_ENST00000538900.1_Missense_Mutation_p.E333K|CNBD2_ENST00000349339.1_Missense_Mutation_p.E333K			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	333																	AAGATTTAAGGAATTCCAGAT	0.403																																						ENST00000373973.3																			0											c.(997-999)Gaa>Aaa		cyclic nucleotide binding domain containing 2							102.0	114.0	110.0					20																	34596245		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34596245G>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.997G>A	20.37:g.34596245G>A	ENSP00000363084:p.Glu333Lys					CNBD2_ENST00000349339.1_Missense_Mutation_p.E333K|CNBD2_ENST00000538900.1_Missense_Mutation_p.E333K	p.E333K							9	1170	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.997G>A		.	.	.	.	.	.	.	.	.	.	G	13.87	2.366879	0.41902	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.15834	2.43;2.43;2.39	5.03	0.714	0.18180	Cyclic nucleotide-binding-like (1);	0.432621	0.23575	N	0.046720	T	0.16642	0.0400	M	0.71581	2.175	0.28644	N	0.90702	P;P	0.42456	0.78;0.775	B;B	0.39660	0.194;0.306	T	0.08764	-1.0706	10	0.46703	T	0.11	-5.0617	5.3398	0.15976	0.1783:0.3181:0.5036:0.0	.	333;333	Q96M20;Q96M20-2	CT152_HUMAN;.	K	333	ENSP00000363084:E333K;ENSP00000340954:E333K;ENSP00000442729:E333K	ENSP00000340954:E333K	E	+	1	0	C20orf152	34059659	0.999000	0.42202	0.894000	0.35097	0.488000	0.33401	0.505000	0.22642	0.081000	0.16988	0.561000	0.74099	GAA		0.403	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		27	77	0	0	0	1	0	27	77				
CHML	1122	broad.mit.edu	37	1	241797567	241797567	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:241797567C>T	ENST00000366553.1	-	1	1665	c.1502G>A	c.(1501-1503)tGc>tAc	p.C501Y	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	501					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTCCTTCATGCATGTCATGGT	0.413																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1501-1503)tGc>tAc		choroideremia-like (Rab escort protein 2)							93.0	86.0	89.0					1																	241797567		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797567C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1502G>A	1.37:g.241797567C>T	ENSP00000355511:p.Cys501Tyr					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.C501Y	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1665	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	501					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1502G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343732	0.61073	.	.	ENSG00000203668	ENST00000366553	D	0.86627	-2.15	5.08	5.08	0.68730	.	0.095769	0.85682	U	0.000000	D	0.93167	0.7824	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93477	0.6824	9	0.87932	D	0	-6.955	14.1906	0.65635	0.0:1.0:0.0:0.0	.	501	P26374	RAE2_HUMAN	Y	501	ENSP00000355511:C501Y	ENSP00000355511:C501Y	C	-	2	0	CHML	239864190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.865000	0.62998	2.826000	0.97356	0.655000	0.94253	TGC		0.413	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		17	70	0	0	0	1	0	17	70				
PMS2CL	441194	broad.mit.edu	37	7	6777369	6777369	+	RNA	SNP	T	T	C	rs35291651	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:6777369T>C	ENST00000486256.1	+	0	1496					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		ACGTGTCAGCTTCTCAGGTTG	0.348													C|||	1218	0.243211	0.2534	0.1758	5008	,	,		16064	0.3413		0.165	False		,,,				2504	0.2566					ENST00000486256.1																			0																																																			441194							g.chr7:6777369T>C	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6777369T>C								NR_002217.1						0	1496	+								B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.348	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		3	29	0	0	0	1	0	3	29				
PAPD7	11044	broad.mit.edu	37	5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:6755014C>A	ENST00000230859.6	+	13	1714	c.1585C>A	c.(1585-1587)Cac>Aac	p.H529N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGAAAAAACACACACACAC	0.657																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1585-1587)Cac>Aac		PAP associated domain containing 7							29.0	31.0	30.0					5																	6755014		2202	4300	6502	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755014C>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1585C>A	5.37:g.6755014C>A	ENSP00000230859:p.His529Asn						p.H529N	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1714	+			529					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1585C>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940508	0.52972	.	.	ENSG00000112941	ENST00000230859	T	0.33216	1.42	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	T	0.16727	0.0402	N	0.19112	0.55	0.31730	N	0.637111	P;P	0.43826	0.818;0.818	B;B	0.32090	0.14;0.14	T	0.20806	-1.0264	10	0.72032	D	0.01	-12.2819	10.9635	0.47399	0.0:0.912:0.0:0.088	.	528;529	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	529	ENSP00000230859:H529N	ENSP00000230859:H529N	H	+	1	0	PAPD7	6808014	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.917000	0.48821	2.458000	0.83093	0.655000	0.94253	CAC		0.657	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		8	24	1	0	3.09899e-07	1	3.51683e-07	8	24				
LMLN	89782	broad.mit.edu	37	3	197687111	197687111	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:197687111C>T	ENST00000330198.4	+	1	41	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	LMLN_ENST00000482695.1_5'UTR|LMLN_ENST00000332636.5_5'Flank|LMLN_ENST00000420910.2_Missense_Mutation_p.P7S|IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000265239.6_5'Flank	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	7					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GACGCTCGGCCCGAAGATGGC	0.746																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(19-21)Ccg>Tcg		leishmanolysin-like (metallopeptidase M8 family)							17.0	21.0	19.0					3																	197687111		2197	4295	6492	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197687111C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.19C>T	3.37:g.197687111C>T	ENSP00000328829:p.Pro7Ser					LMLN_ENST00000420910.2_Missense_Mutation_p.P7S|LMLN_ENST00000482695.1_5'UTR	p.P7S	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	1	41	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	7					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.19C>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063790	0.55432	.	.	ENSG00000185621	ENST00000330198;ENST00000420910	T;T	0.44881	0.91;0.92	4.22	2.39	0.29439	.	0.749959	0.10990	N	0.611716	T	0.21550	0.0519	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.21905	0.037;0.062	B;B	0.23018	0.019;0.043	T	0.25606	-1.0127	10	0.14656	T	0.56	0.1573	4.6387	0.12538	0.2186:0.67:0.0:0.1114	.	7;7	Q96KR4;F8WB28	LMLN_HUMAN;.	S	7	ENSP00000328829:P7S;ENSP00000410926:P7S	ENSP00000328829:P7S	P	+	1	0	LMLN	199171508	0.005000	0.15991	0.963000	0.40424	0.884000	0.51177	0.053000	0.14184	1.111000	0.41721	0.456000	0.33151	CCG		0.746	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		13	32	0	0	0	1	0	13	32				
DPP6	1804	broad.mit.edu	37	7	154585912	154585912	+	Splice_Site	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr7:154585912G>C	ENST00000377770.3	+	11	1401	c.1260G>C	c.(1258-1260)aaG>aaC	p.K420N	DPP6_ENST00000332007.3_Splice_Site_p.K358N|DPP6_ENST00000404039.1_Splice_Site_p.K356N|DPP6_ENST00000427557.1_Splice_Site_p.K313N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	420					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCACGAAGGTACGCGGGG	0.692																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.e11+1		dipeptidyl-peptidase 6							22.0	25.0	24.0					7																	154585912		2024	4164	6188	SO:0001630	splice_region_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154585912G>C	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1260+1G>C	7.37:g.154585912G>C						DPP6_ENST00000377770.3_Splice_Site_p.K420_splice|DPP6_ENST00000332007.3_Splice_Site_p.K358_splice|DPP6_ENST00000427557.1_Splice_Site_p.K313_splice	p.K356_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		11	1655	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	420						Splice_Site	SNP	ENST00000377770.3	37	c.1068_splice		.	.	.	.	.	.	.	.	.	.	G	27.3	4.823335	0.90873	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.21	4.21	0.49690	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.50919	1.6	0.80722	D	1	P;D;D;D	0.63046	0.661;0.982;0.992;0.986	P;P;P;P	0.61477	0.456;0.737;0.889;0.829	T	0.51779	-0.8662	10	0.72032	D	0.01	-20.5275	16.5503	0.84471	0.0:0.0:1.0:0.0	.	313;358;420;356	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	N	356;420;358;313	ENSP00000385578:K356N;ENSP00000367001:K420N;ENSP00000328226:K358N;ENSP00000397303:K313N	ENSP00000328226:K358N	K	+	3	2	DPP6	154216845	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.205000	0.95048	2.070000	0.61991	0.650000	0.86243	AAG		0.692	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	Missense_Mutation	4	13	0	0	0	1	0	4	13				
ZNF169	169841	broad.mit.edu	37	9	97063546	97063546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:97063546C>T	ENST00000395395.2	+	5	1796	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GGGGAGAAGCCGTATGTCTGC	0.562																																						ENST00000395395.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1705-1707)cCg>cTg		zinc finger protein 169							73.0	62.0	66.0					9																	97063546		2203	4300	6503	SO:0001583	missense	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063546C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1706C>T	9.37:g.97063546C>T	ENSP00000378792:p.Pro569Leu					ZNF169_ENST00000340911.4_3'UTR	p.P569L	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN			5	1796	+		Acute lymphoblastic leukemia(62;0.136)	569					A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	ENST00000395395.2	37	c.1706C>T	CCDS6709.2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510039	0.44660	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.27557	1.66	2.51	2.51	0.30379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38134	0.1029	L	0.58969	1.84	0.80722	D	1	D	0.60160	0.987	P	0.51055	0.657	T	0.41106	-0.9527	9	0.72032	D	0.01	.	11.1853	0.48653	0.0:1.0:0.0:0.0	.	569	Q14929	ZN169_HUMAN	L	569;378	ENSP00000378792:P569L	ENSP00000340711:P378L	P	+	2	0	ZNF169	96103367	1.000000	0.71417	0.794000	0.32065	0.043000	0.13939	6.176000	0.71955	1.732000	0.51606	0.508000	0.49915	CCG		0.562	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		12	54	0	0	0	1	0	12	54				
CETN1	1068	broad.mit.edu	37	18	580457	580457	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:580457A>G	ENST00000327228.3	+	1	91	c.49A>G	c.(49-51)Aga>Gga	p.R17G		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	17					cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGGCCAAAAGAGAAAGGTGGC	0.622																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(49-51)Aga>Gga		centrin, EF-hand protein, 1							30.0	22.0	24.0					18																	580457		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580457A>G	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.49A>G	18.37:g.580457A>G	ENSP00000319052:p.Arg17Gly						p.R17G	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	91	+			17					B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.49A>G	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646987	0.47258	.	.	ENSG00000177143	ENST00000327228	T	0.73152	-0.72	5.1	3.94	0.45596	.	0.801566	0.11315	N	0.576729	T	0.50973	0.1647	N	0.08118	0	0.24027	N	0.996122	B	0.02656	0.0	B	0.04013	0.001	T	0.45760	-0.9239	10	0.66056	D	0.02	.	9.2	0.37251	0.9139:0.0:0.0861:0.0	.	17	Q12798	CETN1_HUMAN	G	17	ENSP00000319052:R17G	ENSP00000319052:R17G	R	+	1	2	CETN1	570457	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	4.237000	0.58681	1.081000	0.41110	0.533000	0.62120	AGA		0.622	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		5	14	0	0	0	1	0	5	14				
COMT	1312	broad.mit.edu	37	22	19951227	19951227	+	Missense_Mutation	SNP	C	C	T	rs145228139	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:19951227C>T	ENST00000361682.6	+	4	810	c.428C>T	c.(427-429)cCc>cTc	p.P143L	COMT_ENST00000407537.1_Missense_Mutation_p.P93L|COMT_ENST00000403184.1_Missense_Mutation_p.P143L|COMT_ENST00000493893.1_3'UTR|MIR4761_ENST00000585066.1_RNA|COMT_ENST00000403710.1_Missense_Mutation_p.P143L|COMT_ENST00000449653.1_Missense_Mutation_p.P93L|COMT_ENST00000406520.3_Missense_Mutation_p.P143L	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN	catechol-O-methyltransferase	143					cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171)			kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5	Colorectal(54;0.0993)				Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323)	GAGATCAACCCCGACTGTGCC	0.632																																						ENST00000361682.6																			0				kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1)	5						c.(427-429)cCc>cTc		catechol-O-methyltransferase	Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)						56.0	48.0	51.0					22																	19951227		2203	4300	6503	SO:0001583	missense	1312				neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding	g.chr22:19951227C>T		CCDS13770.1, CCDS46663.1	22q11.21	2012-10-02			ENSG00000093010	ENSG00000093010	2.1.1.6		2228	protein-coding gene	gene with protein product		116790				1572656	Standard	NM_000754		Approved		uc002zqu.3	P21964	OTTHUMG00000150529	ENST00000361682.6:c.428C>T	22.37:g.19951227C>T	ENSP00000354511:p.Pro143Leu					COMT_ENST00000407537.1_Missense_Mutation_p.P93L|COMT_ENST00000406520.3_Missense_Mutation_p.P143L|COMT_ENST00000403710.1_Missense_Mutation_p.P143L|COMT_ENST00000403184.1_Missense_Mutation_p.P143L|COMT_ENST00000449653.1_Missense_Mutation_p.P93L|COMT_ENST00000493893.1_3'UTR	p.P143L	NM_000754.3	NP_000745.1	P21964	COMT_HUMAN			4	810	+	Colorectal(54;0.0993)		143					A8MPV9|Q6IB07|Q6ICE6|Q9BWC7	Missense_Mutation	SNP	ENST00000361682.6	37	c.428C>T	CCDS13770.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.383961	0.61845	.	.	ENSG00000093010	ENST00000361682;ENST00000403184;ENST00000403710;ENST00000407537;ENST00000412786;ENST00000406520;ENST00000449653	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.25	4.17	0.49024	.	0.108923	0.64402	D	0.000006	D	0.89574	0.6754	M	0.92169	3.28	0.80722	D	1	D;D	0.69078	0.989;0.997	P;D	0.65874	0.858;0.939	D	0.91757	0.5417	9	.	.	.	-35.372	14.8189	0.70055	0.1439:0.8561:0.0:0.0	.	143;143	P21964;E7EUU8	COMT_HUMAN;.	L	143;143;143;93;143;143;93	ENSP00000354511:P143L;ENSP00000383966:P143L;ENSP00000385917:P143L;ENSP00000384654:P93L;ENSP00000403958:P143L;ENSP00000385150:P143L;ENSP00000416778:P93L	.	P	+	2	0	COMT	18331227	1.000000	0.71417	0.934000	0.37439	0.022000	0.10575	5.116000	0.64661	2.633000	0.89246	0.655000	0.94253	CCC		0.632	COMT-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318936.2	NM_000754		5	20	0	0	0	1	0	5	20				
HYLS1	219844	broad.mit.edu	37	11	125769445	125769445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:125769445G>A	ENST00000425380.2	+	3	963	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	HYLS1_ENST00000356438.3_Missense_Mutation_p.R61Q|HYLS1_ENST00000526028.1_Missense_Mutation_p.R61Q|PUS3_ENST00000227474.3_Intron	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	61						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGGGAAGCGACCTGCTCTT	0.507																																					Esophageal Squamous(172;2590 2636 8884 10471)	ENST00000425380.2																			0				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9						c.(181-183)cGa>cAa		hydrolethalus syndrome 1							87.0	82.0	84.0					11																	125769445		2201	4299	6500	SO:0001583	missense	219844					centrosome|nucleus		g.chr11:125769445G>A	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.182G>A	11.37:g.125769445G>A	ENSP00000414884:p.Arg61Gln					PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.R61Q|HYLS1_ENST00000356438.3_Missense_Mutation_p.R61Q	p.R61Q	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	963	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	61					B3KXI8|Q96BX9	Missense_Mutation	SNP	ENST00000425380.2	37	c.182G>A	CCDS8467.1	.	.	.	.	.	.	.	.	.	.	G	6.485	0.457604	0.12342	.	.	ENSG00000198331	ENST00000356438;ENST00000425380;ENST00000526028	T;T;T	0.64991	-0.13;-0.13;-0.13	6.17	-4.36	0.03645	.	0.811219	0.10202	N	0.703308	T	0.38983	0.1061	N	0.16478	0.41	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.21211	-1.0252	10	0.33940	T	0.23	.	8.0895	0.30793	0.2968:0.2946:0.4086:0.0	.	61	Q96M11	HYLS1_HUMAN	Q	61	ENSP00000348815:R61Q;ENSP00000414884:R61Q;ENSP00000436833:R61Q	ENSP00000348815:R61Q	R	+	2	0	HYLS1	125274655	0.000000	0.05858	0.006000	0.13384	0.309000	0.27889	-0.537000	0.06128	-0.558000	0.06118	-0.150000	0.13652	CGA		0.507	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		18	36	0	0	0	1	0	18	36				
PLCG1	5335	broad.mit.edu	37	20	39788302	39788302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:39788302C>G	ENST00000373271.1	+	2	679	c.274C>G	c.(274-276)Cgc>Ggc	p.R92G	PLCG1_ENST00000373272.2_Missense_Mutation_p.R92G|PLCG1_ENST00000244007.3_Missense_Mutation_p.R92G	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	92	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGACTTTGATCGCTATCAAGA	0.517																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(274-276)Cgc>Ggc		phospholipase C, gamma 1							86.0	88.0	87.0					20																	39788302		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39788302C>G	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.274C>G	20.37:g.39788302C>G	ENSP00000362368:p.Arg92Gly					PLCG1_ENST00000244007.3_Missense_Mutation_p.R92G|PLCG1_ENST00000373271.1_Missense_Mutation_p.R92G	p.R92G	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			2	679	+		Myeloproliferative disorder(115;0.00878)	92			PH 1.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.274C>G	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.042108	0.75732	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65178	-0.14;-0.14;-0.14	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.66790	0.2825	M	0.81497	2.545	0.80722	D	1	B;B	0.25850	0.136;0.136	B;B	0.19391	0.025;0.025	T	0.69439	-0.5145	10	0.72032	D	0.01	.	18.4505	0.90702	0.0:1.0:0.0:0.0	.	92;92	P19174;A2A284	PLCG1_HUMAN;.	G	92	ENSP00000244007:R92G;ENSP00000362368:R92G;ENSP00000362369:R92G	ENSP00000244007:R92G	R	+	1	0	PLCG1	39221716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.360000	0.80028	0.650000	0.86243	CGC		0.517	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		12	44	0	0	0	1	0	12	44				
FAM47A	158724	broad.mit.edu	37	X	34149966	34149966	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chrX:34149966C>A	ENST00000346193.3	-	1	481	c.430G>T	c.(430-432)Gat>Tat	p.D144Y		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	144										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTAGGAGATCTGGAGGCATA	0.557																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(430-432)Gat>Tat		family with sequence similarity 47, member A							77.0	71.0	73.0					X																	34149966		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34149966C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.430G>T	X.37:g.34149966C>A	ENSP00000345029:p.Asp144Tyr						p.D144Y	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	481	-			144					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.430G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014888	0.35511	.	.	ENSG00000185448	ENST00000346193	T	0.22336	1.96	1.17	1.17	0.20885	.	.	.	.	.	T	0.40570	0.1122	M	0.78049	2.395	0.09310	N	1	D	0.69078	0.997	D	0.71870	0.975	T	0.10222	-1.0639	9	0.87932	D	0	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	144	Q5JRC9	FA47A_HUMAN	Y	144	ENSP00000345029:D144Y	ENSP00000345029:D144Y	D	-	1	0	FAM47A	34059887	0.468000	0.25839	0.049000	0.19019	0.157000	0.22087	0.166000	0.16583	0.880000	0.35969	0.544000	0.68410	GAT		0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		30	18	1	0	6.38683e-12	1	7.50081e-12	30	18				
DNAH9	1770	broad.mit.edu	37	17	11696832	11696832	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:11696832T>G	ENST00000262442.4	+	42	8142	c.8074T>G	c.(8074-8076)Tcc>Gcc	p.S2692A	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2692A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2692					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATTCTCTTCTCCTCAGTGGA	0.388																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8074-8076)Tcc>Gcc		dynein, axonemal, heavy chain 9							144.0	132.0	136.0					17																	11696832		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696832T>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8074T>G	17.37:g.11696832T>G	ENSP00000262442:p.Ser2692Ala					DNAH9_ENST00000454412.2_Missense_Mutation_p.S2692A	p.S2692A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8142	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2692					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8074T>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496469	0.26861	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44482	0.92;0.92	5.76	4.67	0.58626	.	0.187357	0.48767	D	0.000172	T	0.25269	0.0614	N	0.16708	0.43	0.80722	D	1	B	0.02656	0.0	B	0.17722	0.019	T	0.05115	-1.0905	10	0.10111	T	0.7	.	11.8214	0.52240	0.0:0.0:0.2788:0.7212	.	2692	Q9NYC9	DYH9_HUMAN	A	2692;2692;1274	ENSP00000262442:S2692A;ENSP00000414874:S2692A	ENSP00000262442:S2692A	S	+	1	0	DNAH9	11637557	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.917000	0.63369	0.983000	0.38602	0.533000	0.62120	TCC		0.388	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		20	44	0	0	0	1	0	20	44				
SGTA	6449	broad.mit.edu	37	19	2767622	2767622	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:2767622G>A	ENST00000221566.2	-	3	324	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	55					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTCTGAGGGAGCGCAAGG	0.597																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(163-165)Cct>Tct		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							60.0	52.0	55.0					19																	2767622		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2767622G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.163C>T	19.37:g.2767622G>A	ENSP00000221566:p.Pro55Ser						p.P55S	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	324	-		Hepatocellular(1079;0.137)	55					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.163C>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.655700	0.00779	.	.	ENSG00000104969	ENST00000221566	T	0.34275	1.37	4.36	-2.62	0.06152	.	0.710441	0.13774	N	0.363691	T	0.08846	0.0219	N	0.02357	-0.585	0.22127	N	0.999341	B	0.02656	0.0	B	0.04013	0.001	T	0.36016	-0.9765	10	0.02654	T	1	-2.7362	2.9797	0.05949	0.0902:0.2625:0.3798:0.2675	.	55	O43765	SGTA_HUMAN	S	55	ENSP00000221566:P55S	ENSP00000221566:P55S	P	-	1	0	SGTA	2718622	0.734000	0.28142	0.533000	0.28001	0.197000	0.23852	1.123000	0.31308	0.258000	0.21686	0.491000	0.48974	CCT		0.597	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		6	22	0	0	0	1	0	6	22				
PSG2	5670	broad.mit.edu	37	19	43576014	43576014	+	Missense_Mutation	SNP	G	G	C	rs141385747		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:43576014G>C	ENST00000406487.1	-	4	900	c.802C>G	c.(802-804)Ccg>Gcg	p.P268A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	268	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P268S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TACTGTGCCGGTGGGTTAGAG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20276	0.001		0.0	False		,,,				2504	0.0					ENST00000406487.1																			1	Substitution - Missense(1)	p.P268S(1)	kidney(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(802-804)Ccg>Gcg		pregnancy specific beta-1-glycoprotein 2							183.0	193.0	190.0					19																	43576014		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576014G>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.802C>G	19.37:g.43576014G>C	ENSP00000385706:p.Pro268Ala						p.P268A	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			4	900	-		Prostate(69;0.00682)	268			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.802C>G	CCDS12616.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	3.754	-0.050925	0.07407	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.11930	2.73	1.26	-0.159	0.13379	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15739	0.0379	L	0.53617	1.68	0.09310	N	1	B;B	0.24963	0.021;0.115	B;B	0.38803	0.126;0.282	T	0.43702	-0.9375	9	0.38643	T	0.18	.	4.4049	0.11404	0.0:0.0:0.6178:0.3822	.	268;268	B5MCM8;P11465	.;PSG2_HUMAN	A	268	ENSP00000385706:P268A	ENSP00000332984:P268A	P	-	1	0	PSG2	48267854	0.982000	0.34865	0.022000	0.16811	0.036000	0.12997	0.541000	0.23207	-0.202000	0.10268	0.398000	0.26397	CCG		0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		115	181	0	0	0	1	0	115	181				
RTP2	344892	broad.mit.edu	37	3	187416485	187416485	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:187416485T>C	ENST00000358241.1	-	2	907	c.479A>G	c.(478-480)gAg>gGg	p.E160G		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	160					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AACGATGCCCTCCTGGCAGGC	0.667																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(478-480)gAg>gGg		receptor (chemosensory) transporter protein 2							51.0	51.0	51.0					3																	187416485		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416485T>C	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.479A>G	3.37:g.187416485T>C	ENSP00000350976:p.Glu160Gly						p.E160G	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	907	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		160					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.479A>G	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.910389	0.33721	.	.	ENSG00000198471	ENST00000358241	T	0.23147	1.92	4.04	2.83	0.33086	.	0.764745	0.12614	N	0.453601	T	0.20700	0.0498	L	0.29908	0.895	0.31252	N	0.693895	P	0.36027	0.533	B	0.41374	0.355	T	0.19192	-1.0313	10	0.31617	T	0.26	-22.3537	7.4547	0.27258	0.0:0.0:0.2208:0.7792	.	160	Q5QGT7	RTP2_HUMAN	G	160	ENSP00000350976:E160G	ENSP00000350976:E160G	E	-	2	0	RTP2	188899179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.607000	0.24209	0.852000	0.35287	0.379000	0.24179	GAG		0.667	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		17	26	0	0	0	1	0	17	26				
DSCAM	1826	broad.mit.edu	37	21	41711255	41711255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr21:41711255G>T	ENST00000400454.1	-	7	1775	c.1298C>A	c.(1297-1299)aCa>aAa	p.T433K		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	433	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGCAAAGGTGTTCCCTTCAC	0.532																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1297-1299)aCa>aAa		Down syndrome cell adhesion molecule							64.0	65.0	64.0					21																	41711255		2039	4201	6240	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711255G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1298C>A	21.37:g.41711255G>T	ENSP00000383303:p.Thr433Lys						p.T433K	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1775	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	433			Ig-like C2-type 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1298C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598240	0.87055	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66638	-0.22;-0.22	5.73	5.73	0.89815	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	L	0.31294	0.92	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.70619	-0.4822	10	0.30078	T	0.28	.	19.8684	0.96840	0.0:0.0:1.0:0.0	.	433	O60469	DSCAM_HUMAN	K	433;185	ENSP00000383303:T433K;ENSP00000385342:T185K	ENSP00000383303:T433K	T	-	2	0	DSCAM	40633125	1.000000	0.71417	0.177000	0.23020	0.923000	0.55619	9.690000	0.98676	2.698000	0.92095	0.591000	0.81541	ACA		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	27	1	0	0.000673444	1	0.00069406	11	27				
WISP2	8839	broad.mit.edu	37	20	43353459	43353459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:43353459C>T	ENST00000372868.2	+	4	701	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372865.4_Intron|WISP2_ENST00000190983.4_Missense_Mutation_p.R120C			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	120	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTGCAGCATCCGCTGCCGCTG	0.682																																						ENST00000372868.2																			0				skin(1)	1						c.(358-360)Cgc>Tgc		WNT1 inducible signaling pathway protein 2							29.0	23.0	25.0					20																	43353459		2197	4295	6492	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43353459C>T	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.358C>T	20.37:g.43353459C>T	ENSP00000361959:p.Arg120Cys					WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.R120C|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA	p.R120C			O76076	WISP2_HUMAN			4	701	+		Myeloproliferative disorder(115;0.0122)	120			VWFC.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.358C>T	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248680	0.59103	.	.	ENSG00000064205	ENST00000372868;ENST00000190983	T;T	0.72282	-0.64;-0.64	4.66	3.69	0.42338	von Willebrand factor, type C (4);	0.565187	0.18394	N	0.142572	T	0.77928	0.4204	L	0.52573	1.65	0.42896	D	0.994215	D	0.89917	1.0	D	0.63033	0.91	T	0.79198	-0.1902	10	0.87932	D	0	-12.8383	13.1396	0.59428	0.0:0.9199:0.0:0.0801	.	120	O76076	WISP2_HUMAN	C	120	ENSP00000361959:R120C;ENSP00000190983:R120C	ENSP00000190983:R120C	R	+	1	0	WISP2	42786873	0.959000	0.32827	0.066000	0.19879	0.305000	0.27757	2.549000	0.45803	0.923000	0.37045	0.455000	0.32223	CGC		0.682	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		9	13	0	0	0	1	0	9	13				
SYNE1	23345	broad.mit.edu	37	6	152651161	152651161	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:152651161T>C	ENST00000367255.5	-	78	15260	c.14659A>G	c.(14659-14661)Ata>Gta	p.I4887V	SYNE1_ENST00000341594.5_Missense_Mutation_p.I4634V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4887V|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4816V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4887					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAAGTCTATACTCTGCACC	0.542										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(14659-14661)Ata>Gta		spectrin repeat containing, nuclear envelope 1							101.0	98.0	99.0					6																	152651161		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651161T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14659A>G	6.37:g.152651161T>C	ENSP00000356224:p.Ile4887Val	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000448038.1_Missense_Mutation_p.I4816V|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4887V|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4634V	p.I4887V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15260	-		Ovarian(120;0.0955)	4887					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.14659A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	8.470	0.857347	0.17106	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.78	4.58	0.56647	.	0.322788	0.26816	N	0.022347	T	0.27419	0.0673	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.23249	0.021;0.049;0.049;0.082	B;B;B;B	0.28553	0.008;0.042;0.042;0.091	T	0.06972	-1.0797	10	0.31617	T	0.26	.	12.8897	0.58064	0.0:0.0:0.1359:0.8641	.	4887;4887;4887;4816	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	4887;4816;4887;4816;4634	ENSP00000356224:I4887V;ENSP00000396024:I4816V;ENSP00000265368:I4887V;ENSP00000390975:I4816V;ENSP00000341887:I4634V	ENSP00000265368:I4887V	I	-	1	0	SYNE1	152692854	0.994000	0.37717	0.069000	0.20011	0.954000	0.61252	3.418000	0.52721	0.971000	0.38288	0.482000	0.46254	ATA		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		21	78	0	0	0	1	0	21	78				
BMS1P20	96610	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1				BMS1 pseudogene 20																		CTGAATCATGCAGAATTTGAA	0.408																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661208C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661208C>T								NR_027293.1						0	300	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	60	0	0	0	1	0	6	60				
SLC38A10	124565	broad.mit.edu	37	17	79226015	79226015	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:79226015G>A	ENST00000374759.3	-	13	2308	c.1925C>T	c.(1924-1926)cCc>cTc	p.P642L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P642L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	642					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCCTCTGCGGGCTGCCCTGT	0.697																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1924-1926)cCc>cTc		solute carrier family 38, member 10							48.0	59.0	55.0					17																	79226015		2182	4270	6452	SO:0001583	missense	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226015G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1925C>T	17.37:g.79226015G>A	ENSP00000363891:p.Pro642Leu					SLC38A10_ENST00000288439.5_Missense_Mutation_p.P642L	p.P642L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	2308	-	all_neural(118;0.0804)|Melanoma(429;0.242)		642					Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	ENST00000374759.3	37	c.1925C>T	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060147	0.19987	.	.	ENSG00000157637	ENST00000374759;ENST00000540966;ENST00000288439	T;T;T	0.44482	3.12;0.92;2.83	3.32	1.1	0.20463	.	2585.350000	0.00166	N	0.000010	T	0.33265	0.0857	L	0.34521	1.04	0.22389	N	0.999149	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.003	T	0.11817	-1.0572	10	0.19590	T	0.45	-8.6054	7.2153	0.25957	0.1986:0.0:0.8014:0.0	.	642;642	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	L	642;20;642	ENSP00000363891:P642L;ENSP00000437601:P20L;ENSP00000288439:P642L	ENSP00000288439:P642L	P	-	2	0	SLC38A10	76840610	0.000000	0.05858	0.052000	0.19188	0.087000	0.18053	0.063000	0.14410	0.079000	0.16929	0.282000	0.19409	CCC		0.697	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		55	101	0	0	0	1	0	55	101				
STAC	6769	broad.mit.edu	37	3	36524575	36524575	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr3:36524575G>A	ENST00000273183.3	+	3	780	c.480G>A	c.(478-480)atG>atA	p.M160I	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	160					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGCGGTGCATGGGCAAGCTGG	0.577																																						ENST00000273183.3																			0				endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						c.(478-480)atG>atA		SH3 and cysteine rich domain							72.0	59.0	64.0					3																	36524575		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36524575G>A	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.480G>A	3.37:g.36524575G>A	ENSP00000273183:p.Met160Ile					STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	p.M160I	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN			3	780	+			160					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.480G>A	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553303	0.45487	.	.	ENSG00000144681	ENST00000273183;ENST00000544687	T	0.74526	-0.85	4.96	4.96	0.65561	.	0.037201	0.85682	D	0.000000	T	0.68769	0.3037	L	0.43152	1.355	0.80722	D	1	B	0.22851	0.076	B	0.27608	0.081	T	0.62973	-0.6740	10	0.20046	T	0.44	.	17.8448	0.88727	0.0:0.0:1.0:0.0	.	160	Q99469	STAC_HUMAN	I	160;92	ENSP00000273183:M160I	ENSP00000273183:M160I	M	+	3	0	STAC	36499579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.817000	0.91985	2.683000	0.91414	0.655000	0.94253	ATG		0.577	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		9	30	0	0	0	1	0	9	30				
NIPBL	25836	broad.mit.edu	37	5	36986127	36986127	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:36986127A>G	ENST00000282516.8	+	10	3344	c.2845A>G	c.(2845-2847)Agg>Ggg	p.R949G	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R949G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	949					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTGGGGGGCAGGTCTGGTGC	0.398																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2845-2847)Agg>Ggg		Nipped-B homolog (Drosophila)							113.0	119.0	117.0					5																	36986127		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986127A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2845A>G	5.37:g.36986127A>G	ENSP00000282516:p.Arg949Gly					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.R949G	p.R949G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3344	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		949					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2845A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663382	0.29515	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93659	-3.26;-3.26	5.99	5.99	0.97316	.	0.115617	0.64402	D	0.000015	D	0.87732	0.6251	N	0.19112	0.55	0.33923	D	0.641085	B;B	0.21606	0.035;0.058	B;B	0.22601	0.018;0.04	D	0.87731	0.2579	10	0.41790	T	0.15	.	12.9423	0.58352	0.8651:0.1349:0.0:0.0	.	949;949	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	G	949	ENSP00000282516:R949G;ENSP00000406266:R949G	ENSP00000282516:R949G	R	+	1	2	NIPBL	37021884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.369000	0.59511	2.291000	0.77112	0.533000	0.62120	AGG		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		32	76	0	0	0	1	0	32	76				
PCDHGA2	56113	broad.mit.edu	37	5	140720248	140720248	+	Silent	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:140720248C>T	ENST00000394576.2	+	1	1710	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	570	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.642																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1708-1710)gaC>gaT									124.0	128.0	127.0					5																	140720248		2203	4300	6503	SO:0001819	synonymous_variant	56113							g.chr5:140720248C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1710C>T	5.37:g.140720248C>T						PCDHGA1_ENST00000517417.1_Intron	p.D570D	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1710	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1710C>T	CCDS47289.1																																																																																				0.642	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		76	97	0	0	0	1	0	76	97				
CIT	11113	broad.mit.edu	37	12	120222864	120222864	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr12:120222864A>G	ENST00000261833.7	-	11	1353	c.1301T>C	c.(1300-1302)gTt>gCt	p.V434A	CIT_ENST00000392521.2_Missense_Mutation_p.V434A|CIT_ENST00000537607.1_5'Flank	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	434					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCCGACACAACAGACCTAGG	0.463																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1300-1302)gTt>gCt		citron (rho-interacting, serine/threonine kinase 21)							63.0	60.0	61.0					12																	120222864		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120222864A>G	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1301T>C	12.37:g.120222864A>G	ENSP00000261833:p.Val434Ala					CIT_ENST00000261833.7_Missense_Mutation_p.V434A	p.V434A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	11	1356	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	434					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.1301T>C	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.453372	0.26161	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.62788	0.04;0.0	6.08	3.62	0.41486	.	0.075418	0.52532	D	0.000076	T	0.38453	0.1041	N	0.19112	0.55	0.47276	D	0.999379	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12400	-1.0549	10	0.08381	T	0.77	.	6.4896	0.22107	0.7301:0.1331:0.1368:0.0	.	434;434	Q2M5E1;O14578	.;CTRO_HUMAN	A	434	ENSP00000376306:V434A;ENSP00000261833:V434A	ENSP00000261833:V434A	V	-	2	0	CIT	118707247	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.750000	0.55157	1.129000	0.42072	0.533000	0.62120	GTT		0.463	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	32	0	0	0	1	0	5	32				
VCAM1	7412	broad.mit.edu	37	1	101190244	101190244	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:101190244G>A	ENST00000294728.2	+	4	827	c.726G>A	c.(724-726)gtG>gtA	p.V242V	VCAM1_ENST00000370119.4_Silent_p.V180V|VCAM1_ENST00000370115.1_Silent_p.V242V|VCAM1_ENST00000347652.2_Silent_p.V242V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	242	Ig-like C2-type 3.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTGGCTCTGTGACCATGACCT	0.418																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(724-726)gtG>gtA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						102.0	95.0	97.0					1																	101190244		2203	4299	6502	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101190244G>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.726G>A	1.37:g.101190244G>A						VCAM1_ENST00000370119.4_Silent_p.V180V|VCAM1_ENST00000347652.2_Silent_p.V242V|VCAM1_ENST00000370115.1_Silent_p.V242V	p.V242V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	4	827	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	242			Ig-like C2-type 3.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.726G>A	CCDS773.1																																																																																				0.418	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		19	49	0	0	0	1	0	19	49				
HCN1	348980	broad.mit.edu	37	5	45262440	45262440	+	Silent	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr5:45262440G>C	ENST00000303230.4	-	8	2313	c.2256C>G	c.(2254-2256)tcC>tcG	p.S752S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	752	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGCTGCGGGGACGgctgct	0.642																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2254-2256)tcC>tcG		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							49.0	50.0	49.0					5																	45262440		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262440G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2256C>G	5.37:g.45262440G>C							p.S752S	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			8	2313	-			752			Gln-rich.			Silent	SNP	ENST00000303230.4	37	c.2256C>G	CCDS3952.1																																																																																				0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		12	33	0	0	0	1	0	12	33				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	49	0	0	0	1	0	7	49				
ZNF564	163050	broad.mit.edu	37	19	12637897	12637897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:12637897C>G	ENST00000339282.7	-	4	1221	c.1025G>C	c.(1024-1026)tGt>tCt	p.C342S	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTTTTACCACATTTATTACA	0.388																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1024-1026)tGt>tCt		zinc finger protein 564							65.0	71.0	69.0					19																	12637897		2196	4296	6492	SO:0001583	missense	163050							g.chr19:12637897C>G	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1025G>C	19.37:g.12637897C>G	ENSP00000340004:p.Cys342Ser					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.C342S	NM_144976.3	NP_659413.1					4	1221	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.1025G>C	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508648	0.85282	.	.	ENSG00000249709	ENST00000339282	D	0.85861	-2.04	1.71	1.71	0.24356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94463	0.8218	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94777	0.7950	9	0.87932	D	0	.	11.109	0.48221	0.0:1.0:0.0:0.0	.	342	Q8TBZ8	ZN564_HUMAN	S	342	ENSP00000340004:C342S	ENSP00000340004:C342S	C	-	2	0	ZNF564	12498897	1.000000	0.71417	0.024000	0.17045	0.995000	0.86356	5.935000	0.70145	1.287000	0.44583	0.643000	0.83706	TGT		0.388	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		19	68	0	0	0	1	0	19	68				
UNC13C	440279	broad.mit.edu	37	15	54542428	54542428	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:54542428G>T	ENST00000260323.11	+	7	3234	c.3234G>T	c.(3232-3234)atG>atT	p.M1078I	UNC13C_ENST00000545554.1_Missense_Mutation_p.M1078I|UNC13C_ENST00000537900.1_Missense_Mutation_p.M1076I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1078					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACAGAAAATGCACGTCTTCA	0.418																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3232-3234)atG>atT		unc-13 homolog C (C. elegans)							80.0	74.0	76.0					15																	54542428		1988	4181	6169	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54542428G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3234G>T	15.37:g.54542428G>T	ENSP00000260323:p.Met1078Ile					UNC13C_ENST00000537900.1_Missense_Mutation_p.M1076I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M1078I	p.M1078I			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	7	3234	+			1078					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3234G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	5.089	0.201996	0.09652	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.78481	-1.18;-1.18;-1.18	5.65	3.56	0.40772	.	0.354983	0.33691	N	0.004645	T	0.60405	0.2266	L	0.29908	0.895	0.36207	D	0.851116	B	0.02656	0.0	B	0.01281	0.0	T	0.52147	-0.8614	10	0.15499	T	0.54	.	5.7452	0.18116	0.2086:0.1641:0.6273:0.0	.	1078	Q8NB66	UN13C_HUMAN	I	1078;1078;1076	ENSP00000260323:M1078I;ENSP00000438156:M1078I;ENSP00000442569:M1076I	ENSP00000260323:M1078I	M	+	3	0	UNC13C	52329720	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	0.282000	0.18829	0.547000	0.28938	0.650000	0.86243	ATG		0.418	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	22	1	0	5.9392e-07	1	6.6651e-07	5	22				
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1				BMS1 pseudogene 20																		CCCCCACCCCGTCATGTACAG	0.413																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661187G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661187G>A								NR_027293.1						0	279	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	37	0	0	0	1	0	6	37				
LRRC10	376132	broad.mit.edu	37	12	70003993	70003993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr12:70003993G>A	ENST00000361484.3	-	1	949	c.626C>T	c.(625-627)gCg>gTg	p.A209V		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	209					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGACAGGTGCGCCAGGCTGGG	0.572																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(625-627)gCg>gTg		leucine rich repeat containing 10							87.0	77.0	80.0					12																	70003993		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70003993G>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.626C>T	12.37:g.70003993G>A	ENSP00000355166:p.Ala209Val						p.A209V	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	949	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		209					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.626C>T	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502227	0.26949	.	.	ENSG00000198812	ENST00000361484	T	0.25579	1.79	5.63	2.77	0.32553	.	0.497220	0.24606	N	0.037088	T	0.18087	0.0434	L	0.31294	0.92	0.29835	N	0.829687	B	0.06786	0.001	B	0.04013	0.001	T	0.11155	-1.0599	10	0.54805	T	0.06	.	9.9374	0.41559	0.2749:0.0:0.7251:0.0	.	209	Q5BKY1	LRC10_HUMAN	V	209	ENSP00000355166:A209V	ENSP00000355166:A209V	A	-	2	0	LRRC10	68290260	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.345000	0.52182	0.845000	0.35118	0.561000	0.74099	GCG		0.572	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		13	58	0	0	0	1	0	13	58				
C2CD3	26005	broad.mit.edu	37	11	73753183	73753183	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:73753183A>C	ENST00000334126.7	-	29	5802	c.5576T>G	c.(5575-5577)cTt>cGt	p.L1859R	C2CD3_ENST00000313663.7_Missense_Mutation_p.L1859R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1859					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTCTCCCTGAAGATGCAGGGA	0.468																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(5575-5577)cTt>cGt		C2 calcium-dependent domain containing 3							224.0	183.0	197.0					11																	73753183		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73753183A>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5576T>G	11.37:g.73753183A>C	ENSP00000334379:p.Leu1859Arg					C2CD3_ENST00000313663.7_Missense_Mutation_p.L1859R	p.L1859R			Q4AC94	C2CD3_HUMAN			29	5802	-	Breast(11;4.16e-06)		1859					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.5576T>G		.	.	.	.	.	.	.	.	.	.	A	11.75	1.731073	0.30684	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.13420	3.01;3.01;2.59	0.149	0.149	0.14863	.	2.614030	0.03633	U	0.238243	T	0.05686	0.0149	N	0.08118	0	0.28508	N	0.91369	P	0.39809	0.689	B	0.23716	0.048	T	0.25502	-1.0130	9	0.52906	T	0.07	.	.	.	.	.	1859	Q4AC94-1	.	R	1859;1859;1840;667	ENSP00000334379:L1859R;ENSP00000323339:L1859R;ENSP00000388750:L667R	ENSP00000323339:L1859R	L	-	2	0	C2CD3	73430831	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	0.232000	0.17891	0.166000	0.19597	0.164000	0.16699	CTT		0.468	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		7	61	0	0	0	1	0	7	61				
WDR72	256764	broad.mit.edu	37	15	53905881	53905881	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:53905881A>C	ENST00000396328.1	-	16	3093	c.2854T>G	c.(2854-2856)Tac>Gac	p.Y952D	WDR72_ENST00000360509.5_Missense_Mutation_p.Y952D|WDR72_ENST00000557913.1_Missense_Mutation_p.Y949D|WDR72_ENST00000559418.1_Missense_Mutation_p.Y962D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	952										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGCAACTGTAGAAGCTTGAC	0.333																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2854-2856)Tac>Gac		WD repeat domain 72							114.0	114.0	114.0					15																	53905881		2193	4290	6483	SO:0001583	missense	256764							g.chr15:53905881A>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2854T>G	15.37:g.53905881A>C	ENSP00000379619:p.Tyr952Asp					WDR72_ENST00000559418.1_Missense_Mutation_p.Y962D|WDR72_ENST00000360509.5_Missense_Mutation_p.Y952D|WDR72_ENST00000557913.1_Missense_Mutation_p.Y949D	p.Y952D	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	16	3093	-			952					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2854T>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457721	0.26161	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.39056	1.1;1.1	5.18	4.06	0.47325	.	0.210309	0.33813	N	0.004526	T	0.34745	0.0908	L	0.59436	1.845	0.29560	N	0.850682	P	0.39216	0.664	B	0.35470	0.203	T	0.31998	-0.9923	10	0.38643	T	0.18	.	7.9634	0.30085	0.9054:0.0:0.0946:0.0	.	952	Q3MJ13	WDR72_HUMAN	D	952	ENSP00000379619:Y952D;ENSP00000353699:Y952D	ENSP00000353699:Y952D	Y	-	1	0	WDR72	51693173	0.947000	0.32204	0.915000	0.36163	0.179000	0.23085	1.718000	0.38001	0.927000	0.37143	0.482000	0.46254	TAC		0.333	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		17	43	0	0	0	1	0	17	43				
SPOCK2	9806	broad.mit.edu	37	10	73822656	73822656	+	Silent	SNP	G	G	A	rs372959015		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr10:73822656G>A	ENST00000373109.2	-	11	1581	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SPOCK2_ENST00000536168.1_Silent_p.I379I|SPOCK2_ENST00000460053.1_5'Flank|SPOCK2_ENST00000317376.4_Silent_p.I379I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	379					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGAAGCCCACGATGTCATCTG	0.672																																						ENST00000373109.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1135-1137)atC>atT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2		G		1,4405		0,1,2202	35.0	28.0	30.0		1137	2.3	1.0	10		30	0,8600		0,0,4300	no	coding-synonymous	SPOCK2	NM_014767.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		379/425	73822656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9806				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding	g.chr10:73822656G>A	AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.1137C>T	10.37:g.73822656G>A						SPOCK2_ENST00000317376.4_Silent_p.I379I|SPOCK2_ENST00000536168.1_Silent_p.I379I	p.I379I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN			11	1581	-			379					C9J767|Q6UW87	Silent	SNP	ENST00000373109.2	37	c.1137C>T	CCDS7313.1																																																																																				0.672	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048560.2			6	13	0	0	0	1	0	6	13				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	17	0	0	0	1	0	11	17				
WDR90	197335	broad.mit.edu	37	16	711667	711667	+	Silent	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:711667C>A	ENST00000293879.4	+	31	3744	c.3744C>A	c.(3742-3744)ctC>ctA	p.L1248L	WDR90_ENST00000549091.1_Silent_p.L1248L			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1248										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCACCCGCCTCCCGGAGCCGG	0.687																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3742-3744)ctC>ctA		WD repeat domain 90							29.0	35.0	33.0					16																	711667		2050	4189	6239	SO:0001819	synonymous_variant	197335							g.chr16:711667C>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3744C>A	16.37:g.711667C>A						WDR90_ENST00000293879.4_Silent_p.L1248L	p.L1248L	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			31	3836	+		Hepatocellular(780;0.0218)	1248					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.3744C>A	CCDS42092.1																																																																																				0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		9	46	1	0	0.000274275	1	0.00028856	9	46				
KCNG2	26251	broad.mit.edu	37	18	77659548	77659548	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr18:77659548G>A	ENST00000316249.3	+	2	1133	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	378					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ATGGTCCCGCGCAGCCTGCCC	0.687																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1132-1134)cGc>cAc		potassium voltage-gated channel, subfamily G, member 2							49.0	45.0	46.0					18																	77659548		2203	4298	6501	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659548G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1133G>A	18.37:g.77659548G>A	ENSP00000315654:p.Arg378His					KCNG2_ENST00000590307.1_3'UTR	p.R378H	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1133	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	378						Missense_Mutation	SNP	ENST00000316249.3	37	c.1133G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951162	0.53186	.	.	ENSG00000178342	ENST00000316249	T	0.44881	0.91	3.15	2.27	0.28462	Ion transport (1);	0.072958	0.51477	N	0.000096	T	0.37625	0.1010	L	0.28740	0.885	0.43317	D	0.995336	D	0.53619	0.961	P	0.50617	0.646	T	0.12682	-1.0538	10	0.52906	T	0.07	.	9.7621	0.40539	0.1044:0.0:0.8956:0.0	.	378	Q9UJ96	KCNG2_HUMAN	H	378	ENSP00000315654:R378H	ENSP00000315654:R378H	R	+	2	0	KCNG2	75760536	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	8.375000	0.90135	0.535000	0.28714	0.405000	0.27470	CGC		0.687	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		12	34	0	0	0	1	0	12	34				
DLC1	10395	broad.mit.edu	37	8	12957134	12957134	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:12957134G>A	ENST00000276297.4	-	9	3121	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	DLC1_ENST00000520226.1_Silent_p.P393P|DLC1_ENST00000358919.2_Silent_p.P467P|DLC1_ENST00000512044.2_Silent_p.P501P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	904					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTCCAGCTCGGGGAAGATGT	0.582																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2710-2712)ccC>ccT		deleted in liver cancer 1							80.0	70.0	73.0					8																	12957134		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957134G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2712C>T	8.37:g.12957134G>A						DLC1_ENST00000520226.1_Silent_p.P393P|DLC1_ENST00000512044.2_Silent_p.P501P|DLC1_ENST00000358919.2_Silent_p.P467P	p.P904P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3121	-			904					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2712C>T	CCDS5989.1																																																																																				0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	25	0	0	0	1	0	5	25				
RYR3	6263	broad.mit.edu	37	15	33765661	33765661	+	Silent	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr15:33765661G>A	ENST00000389232.4	+	2	163	c.93G>A	c.(91-93)aaG>aaA	p.K31K	RYR3_ENST00000415757.3_Silent_p.K31K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	31					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATTCATAAGGAGCAGAGGA	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(91-93)aaG>aaA		ryanodine receptor 3							108.0	110.0	109.0					15																	33765661		2086	4209	6295	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33765661G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.93G>A	15.37:g.33765661G>A						RYR3_ENST00000415757.3_Silent_p.K31K	p.K31K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	2	163	+		all_lung(180;7.18e-09)	31					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.93G>A	CCDS45210.1																																																																																				0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			27	62	0	0	0	1	0	27	62				
MST1L	11223	broad.mit.edu	37	1	17084459	17084459	+	RNA	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:17084459G>T	ENST00000455405.2	-	0	430							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										AGCAGGACAAGCTGGGAGCCT	0.597																																						ENST00000455405.2																			0																																																			11223							g.chr1:17084459G>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084459G>T														0	430	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.82	1.751736	0.31046	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37761	N	0.001957	T	0.50973	0.1647	.	.	.	.	.	.	D;D	0.71674	0.998;0.998	D;D	0.80764	0.964;0.994	T	0.55768	-0.8089	6	0.19147	T	0.46	.	2.6652	0.05046	0.5:0.0:0.5:0.0	.	547;573	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	I	542;547;573	.	ENSP00000439273:L547I	L	-	1	0	MST1P9	16957046	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	2.989000	0.49393	-0.000000	0.14550	0.000000	0.15137	CTT		0.597	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		6	109	1	0	5.18039e-06	1	5.62602e-06	6	109				
UFL1	23376	broad.mit.edu	37	6	96982156	96982156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr6:96982156C>T	ENST00000369278.4	+	7	680	c.614C>T	c.(613-615)tCt>tTt	p.S205F		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	205	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										GCTGTGAATTCTTTGATTTCA	0.259																																						ENST00000369278.4																			0											c.(613-615)tCt>tTt		UFM1-specific ligase 1							57.0	56.0	57.0					6																	96982156		2200	4272	6472	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96982156C>T	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.614C>T	6.37:g.96982156C>T	ENSP00000358283:p.Ser205Phe						p.S205F	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			7	680	+			205			Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.614C>T	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164291	0.38217	.	.	ENSG00000014123	ENST00000369278	T	0.46451	0.87	4.73	4.73	0.59995	.	0.440968	0.26314	N	0.025097	T	0.29321	0.0730	M	0.68593	2.085	0.31987	N	0.605083	B	0.31413	0.322	B	0.36922	0.236	T	0.35549	-0.9784	10	0.72032	D	0.01	-3.0312	8.4286	0.32744	0.1715:0.6627:0.1659:0.0	.	205	O94874	UFL1_HUMAN	F	205	ENSP00000358283:S205F	ENSP00000358283:S205F	S	+	2	0	KIAA0776	97088877	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.480000	0.45206	2.618000	0.88619	0.549000	0.68633	TCT		0.259	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		4	29	0	0	0	1	0	4	29				
KIAA0100	9703	broad.mit.edu	37	17	26955288	26955288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:26955288G>T	ENST00000528896.2	-	24	4663	c.4589C>A	c.(4588-4590)tCa>tAa	p.S1530*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.S1387*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.S1387*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1530						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTTACCTCCTGATGACCCCTT	0.507																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(4588-4590)tCa>tAa		KIAA0100							112.0	99.0	103.0					17																	26955288		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26955288G>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4589C>A	17.37:g.26955288G>T	ENSP00000436773:p.Ser1530*					KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.S1387*|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.S1387*	p.S1530*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			24	4663	-	Lung NSC(42;0.00431)		1530					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.4589C>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	46	12.377972	0.99662	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.41	5.41	0.78517	.	0.193427	0.45606	D	0.000350	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.187	0.93648	0.0:0.0:1.0:0.0	.	.	.	.	X	1530;1500;1530;1387	.	ENSP00000005905:S1530X	S	-	2	0	KIAA0100	23979415	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.251000	0.58778	2.549000	0.85964	0.563000	0.77884	TCA		0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		8	68	1	0	0.0477658	1	0.0482434	8	68				
PLAA	9373	broad.mit.edu	37	9	26910396	26910396	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:26910396T>C	ENST00000397292.3	-	12	2014	c.1597A>G	c.(1597-1599)Att>Gtt	p.I533V	PLAA_ENST00000520884.1_Missense_Mutation_p.I533V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	533	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GGGAAATAAATATTCATTGTT	0.313																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1597-1599)Att>Gtt		phospholipase A2-activating protein							107.0	107.0	107.0					9																	26910396		2203	4299	6502	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26910396T>C	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1597A>G	9.37:g.26910396T>C	ENSP00000380460:p.Ile533Val					PLAA_ENST00000520884.1_Missense_Mutation_p.I533V	p.I533V	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	12	2014	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	533			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1597A>G	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.419593|1.419593	0.25552|0.25552	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.54866|.	0.55;0.71|.	5.51|5.51	5.51|5.51	0.81932|0.81932	PUL (1);|.	0.201627|.	0.51477|.	D|.	0.000087|.	T|T	0.43809|0.43809	0.1264|0.1264	N|N	0.22421|0.22421	0.69|0.69	0.42157|0.42157	D|D	0.991587|0.991587	B;B|.	0.12013|.	0.005;0.001|.	B;B|.	0.10450|.	0.005;0.004|.	T|T	0.38090|0.38090	-0.9677|-0.9677	10|5	0.33940|.	T|.	0.23|.	-16.0228|-16.0228	10.0381|10.0381	0.42142|0.42142	0.0:0.0752:0.0:0.9248|0.0:0.0752:0.0:0.9248	.|.	533;533|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	V|C	533|205;59	ENSP00000380460:I533V;ENSP00000429372:I533V|.	ENSP00000380460:I533V|.	I|Y	-|-	1|2	0|0	PLAA|PLAA	26900396|26900396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.139000|5.139000	0.64801|0.64801	2.085000|2.085000	0.62840|0.62840	0.528000|0.528000	0.53228|0.53228	ATT|TAT		0.313	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		10	31	0	0	0	1	0	10	31				
ZNF763	284390	broad.mit.edu	37	19	12089640	12089640	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:12089640A>G	ENST00000358987.3	+	4	1028	c.901A>G	c.(901-903)Ata>Gta	p.I301V	ZNF763_ENST00000590798.1_Missense_Mutation_p.I321V|ZNF763_ENST00000545530.1_Missense_Mutation_p.I179V|ZNF763_ENST00000343949.5_Missense_Mutation_p.I304V|ZNF763_ENST00000538752.1_Missense_Mutation_p.I321V			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTCCTTTCAAATACATGAAAG	0.393																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(910-912)Ata>Gta		zinc finger protein 763							55.0	58.0	57.0					19																	12089640		2196	4295	6491	SO:0001583	missense	284390							g.chr19:12089640A>G	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.901A>G	19.37:g.12089640A>G	ENSP00000402017:p.Ile301Val					ZNF763_ENST00000358987.3_Missense_Mutation_p.I301V|ZNF763_ENST00000590798.1_Missense_Mutation_p.I321V|ZNF763_ENST00000545530.1_Missense_Mutation_p.I179V|ZNF763_ENST00000538752.1_Missense_Mutation_p.I321V	p.I304V	NM_001012753.1	NP_001012771.1					4	1065	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.910A>G		.	.	.	.	.	.	.	.	.	.	a	0.046	-1.265927	0.01433	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	1.37	-1.49	0.08718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	L	0.28274	0.84	0.09310	N	1	B;B;B	0.30709	0.091;0.291;0.003	B;B;B	0.33196	0.051;0.159;0.001	T	0.35301	-0.9794	9	0.08179	T	0.78	.	0.3691	0.00376	0.2412:0.2263:0.3078:0.2247	.	321;301;304	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	V	321;304;179;301	ENSP00000438117:I321V;ENSP00000369774:I304V;ENSP00000446166:I179V;ENSP00000402017:I301V	ENSP00000369774:I304V	I	+	1	0	ZNF763	11950640	0.000000	0.05858	0.003000	0.11579	0.230000	0.25150	-4.318000	0.00254	-0.247000	0.09597	0.163000	0.16589	ATA		0.393	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		12	36	0	0	0	1	0	12	36				
MCF2	4168	broad.mit.edu	37	X	138711911	138711911	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chrX:138711911A>T	ENST00000370576.4	-	4	590	c.381T>A	c.(379-381)gaT>gaA	p.D127E	MCF2_ENST00000520602.1_Missense_Mutation_p.D187E|MCF2_ENST00000414978.1_Missense_Mutation_p.D187E|MCF2_ENST00000519895.1_Missense_Mutation_p.D187E|MCF2_ENST00000370573.4_Missense_Mutation_p.D127E|MCF2_ENST00000338585.6_Missense_Mutation_p.D127E|MCF2_ENST00000370578.4_Missense_Mutation_p.D272E|MCF2_ENST00000536274.1_Missense_Mutation_p.D88E	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	127					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGAGGGAATATCATCTGGTA	0.398																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(559-561)gaT>gaA		MCF.2 cell line derived transforming sequence							196.0	190.0	192.0					X																	138711911		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138711911A>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.381T>A	X.37:g.138711911A>T	ENSP00000359608:p.Asp127Glu					MCF2_ENST00000370573.4_Missense_Mutation_p.D127E|MCF2_ENST00000370576.4_Missense_Mutation_p.D127E|MCF2_ENST00000536274.1_Missense_Mutation_p.D88E|MCF2_ENST00000370578.4_Missense_Mutation_p.D272E|MCF2_ENST00000519895.1_Missense_Mutation_p.D187E|MCF2_ENST00000338585.6_Missense_Mutation_p.D127E|MCF2_ENST00000414978.1_Missense_Mutation_p.D187E	p.D187E			P10911	MCF2_HUMAN			7	846	-	Acute lymphoblastic leukemia(192;0.000127)		127					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.561T>A	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118137	0.37339	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.17	1.38	0.22167	.	0.113009	0.64402	N	0.000006	T	0.38026	0.1025	M	0.63428	1.95	0.18873	N	0.999984	B;B;B;B;B;B;B;B	0.16396	0.005;0.002;0.009;0.001;0.009;0.005;0.017;0.005	B;B;B;B;B;B;B;B	0.22753	0.018;0.01;0.041;0.018;0.041;0.018;0.034;0.018	T	0.24404	-1.0161	10	0.30854	T	0.27	.	4.0026	0.09587	0.4848:0.1806:0.3346:0.0	.	187;272;88;127;127;272;127;127	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	E	187;127;88;272;187;187;127;127	ENSP00000427745:D187E;ENSP00000359608:D127E;ENSP00000438155:D88E;ENSP00000359610:D272E;ENSP00000397055:D187E;ENSP00000430276:D187E;ENSP00000359605:D127E;ENSP00000342204:D127E	ENSP00000342204:D127E	D	-	3	2	MCF2	138539577	0.962000	0.33011	0.994000	0.49952	0.989000	0.77384	0.227000	0.17795	0.166000	0.19597	0.425000	0.28330	GAT		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		48	52	0	0	0	1	0	48	52				
OR4Q3	441669	broad.mit.edu	37	14	20215606	20215606	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr14:20215606C>T	ENST00000331723.1	+	1	20	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACAAGATTCTAATGTGACA	0.333																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(19-21)tCt>tTt		olfactory receptor, family 4, subfamily Q, member 3							109.0	111.0	110.0					14																	20215606		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215606C>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.20C>T	14.37:g.20215606C>T	ENSP00000330049:p.Ser7Phe						p.S7F	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	20	+	all_cancers(95;0.00108)		7					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.20C>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.997313	0.35226	.	.	ENSG00000182652	ENST00000331723	T	0.54675	0.56	4.32	4.32	0.51571	.	0.000000	0.39146	U	0.001456	T	0.72669	0.3489	M	0.91872	3.25	0.26677	N	0.971617	D	0.58268	0.982	P	0.56042	0.79	T	0.71300	-0.4634	10	0.87932	D	0	.	14.3262	0.66523	0.0:1.0:0.0:0.0	.	7	Q8NH05	OR4Q3_HUMAN	F	7	ENSP00000330049:S7F	ENSP00000330049:S7F	S	+	2	0	OR4Q3	19285446	0.876000	0.30132	0.255000	0.24374	0.307000	0.27823	4.990000	0.63876	2.238000	0.73509	0.509000	0.49947	TCT		0.333	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			13	120	0	0	0	1	0	13	120				
ENDOD1	23052	broad.mit.edu	37	11	94862701	94862701	+	Silent	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:94862701G>T	ENST00000278505.4	+	2	1579	c.1461G>T	c.(1459-1461)cgG>cgT	p.R487R		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	487						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTGCAAGCGGATTGGCTACA	0.433																																						ENST00000278505.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11						c.(1459-1461)cgG>cgT		endonuclease domain containing 1							130.0	123.0	125.0					11																	94862701		1901	4130	6031	SO:0001819	synonymous_variant	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862701G>T	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1461G>T	11.37:g.94862701G>T							p.R487R	NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN			2	1579	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	487					A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	c.1461G>T	CCDS41699.1																																																																																				0.433	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		11	53	1	0	1.58986e-06	1	1.76457e-06	11	53				
CYP2D7	1564	broad.mit.edu	37	22	42539549	42539549	+	RNA	SNP	G	G	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr22:42539549G>A	ENST00000358097.4	-	0	299				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						CAGGCCAGCTGCAGGCTGAAC	0.701																																					GBM(91;329 1845 13264 22235)	ENST00000424775.1																			0				endometrium(1)	1																																														1564							g.chr22:42539549G>A																													22.37:g.42539549G>A						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	290	-									RNA	SNP	ENST00000358097.4	37			.	.	.	.	.	.	.	.	.	.	G	15.69	2.907726	0.52333	.	.	ENSG00000205702	ENST00000428297;ENST00000354609;ENST00000381321;ENST00000535769	.	.	.	3.68	2.64	0.31445	.	0.080913	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.7142	0.40265	0.0:0.2132:0.7868:0.0	.	.	.	.	X	71;71;21;13	.	ENSP00000442416:Q71X	Q	-	1	0	CYP2D7P1	40869493	0.017000	0.18338	0.999000	0.59377	0.945000	0.59286	0.730000	0.26043	0.833000	0.34828	0.508000	0.49915	CAG		0.701	CYP2D7P1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000075076.3			4	11	0	0	0	1	0	4	11				
JRKL	8690	broad.mit.edu	37	11	96125155	96125155	+	Missense_Mutation	SNP	G	G	A	rs148141652		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:96125155G>A	ENST00000332349.4	+	2	1589	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.E448K|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000525786.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	448					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AACTGATAGCGAAATCATCAG	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		22288	0.0		0.001	False		,,,				2504	0.0					ENST00000458427.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1342-1344)Gaa>Aaa		jerky homolog-like (mouse)		G	LYS/GLU	0,4402		0,0,2201	69.0	65.0	66.0		1342	4.8	1.0	11	dbSNP_134	66	1,8595		0,1,4297	yes	missense	JRKL	NM_003772.3	56	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	448/525	96125155	1,12997	2201	4298	6499	SO:0001583	missense	8690				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:96125155G>A	AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1342G>A	11.37:g.96125155G>A	ENSP00000333350:p.Glu448Lys					JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.E448K	p.E448K	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.148)	1	1998	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	448					A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	ENST00000332349.4	37	c.1342G>A	CCDS8308.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.20	3.055945	0.55325	0.0	1.16E-4	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.25085	1.82;1.82	4.79	4.79	0.61399	.	0.168853	0.28036	N	0.016842	T	0.24005	0.0581	L	0.55481	1.735	0.37042	D	0.897202	D	0.54772	0.968	B	0.40636	0.335	T	0.17653	-1.0362	10	0.21014	T	0.42	-12.4916	13.6908	0.62544	0.0:0.0:1.0:0.0	.	448	Q9Y4A0	JERKL_HUMAN	K	448	ENSP00000333350:E448K;ENSP00000389989:E448K	ENSP00000333350:E448K	E	+	1	0	JRKL	95764803	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	5.007000	0.63984	2.360000	0.80028	0.462000	0.41574	GAA		0.408	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337775.2	NM_003772		16	35	0	0	0	1	0	16	35				
CSMD3	114788	broad.mit.edu	37	8	113277717	113277717	+	Missense_Mutation	SNP	G	G	A	rs144899938	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:113277717G>A	ENST00000297405.5	-	60	9855	c.9611C>T	c.(9610-9612)aCg>aTg	p.T3204M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3134M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3035M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3164M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3204	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAATTCCATCGTGTAGCCTGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9610-9612)aCg>aTg		CUB and Sushi multiple domains 3		A	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	197.0	166.0	176.0		9104,9611,9491	3.7	0.4	8	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	81,81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	3035/3539,3204/3708,3164/3668	113277717	2,13004	2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113277717G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9611C>T	8.37:g.113277717G>A	ENSP00000297405:p.Thr3204Met	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.T3134M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3164M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3035M	p.T3204M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			60	9855	-			3204			Sushi 24.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9611C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	g	7.677	0.688161	0.14973	0.0	2.33E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.44	3.66	0.41972	Complement control module (2);Sushi/SCR/CCP (3);	0.456891	0.21542	N	0.072877	T	0.48040	0.1478	L	0.28344	0.845	0.33271	D	0.561008	B;B;B	0.25441	0.126;0.006;0.012	B;B;B	0.19666	0.026;0.01;0.017	T	0.55471	-0.8136	10	0.41790	T	0.15	.	12.812	0.57645	0.129:0.0:0.871:0.0	.	3035;3204;3164	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	M	3164;3204;2474;3035;3134	ENSP00000345799:T3164M;ENSP00000297405:T3204M;ENSP00000341558:T2474M;ENSP00000412263:T3035M;ENSP00000343124:T3134M	ENSP00000297405:T3204M	T	-	2	0	CSMD3	113346893	0.553000	0.26513	0.412000	0.26496	0.904000	0.53231	0.916000	0.28651	0.807000	0.34208	-0.889000	0.02933	ACG		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		30	94	0	0	0	1	0	30	94				
TTC12	54970	broad.mit.edu	37	11	113211391	113211391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr11:113211391G>C	ENST00000529221.1	+	11	937	c.832G>C	c.(832-834)Gaa>Caa	p.E278Q	TTC12_ENST00000393020.1_Missense_Mutation_p.E278Q|TTC12_ENST00000483239.2_Missense_Mutation_p.E284Q|TTC12_ENST00000314756.3_Missense_Mutation_p.E278Q	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443																																						ENST00000393020.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(832-834)Gaa>Caa		tetratricopeptide repeat domain 12							135.0	121.0	126.0					11																	113211391		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113211391G>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.832G>C	11.37:g.113211391G>C	ENSP00000433757:p.Glu278Gln					TTC12_ENST00000314756.3_Missense_Mutation_p.E278Q|TTC12_ENST00000529221.1_Missense_Mutation_p.E278Q|TTC12_ENST00000483239.2_Missense_Mutation_p.E284Q	p.E278Q			Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	11	1237	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	278					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.832G>C	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010968	0.54361	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000525965;ENST00000393020;ENST00000483239	T;T;T;T;T	0.46819	2.43;2.4;0.86;2.39;2.42	5.22	5.22	0.72569	Armadillo-type fold (1);	0.392990	0.27759	N	0.017975	T	0.52597	0.1744	M	0.74881	2.28	0.39823	D	0.972863	P;P	0.51351	0.944;0.944	B;B	0.44044	0.439;0.439	T	0.58098	-0.7696	10	0.35671	T	0.21	-15.0431	16.048	0.80734	0.0:0.0:1.0:0.0	.	278;278	A8K8G6;Q9H892	.;TTC12_HUMAN	Q	278;278;234;278;284	ENSP00000433757:E278Q;ENSP00000315160:E278Q;ENSP00000435308:E234Q;ENSP00000376743:E278Q;ENSP00000419652:E284Q	ENSP00000315160:E278Q	E	+	1	0	TTC12	112716601	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	5.122000	0.64697	2.594000	0.87642	0.650000	0.86243	GAA		0.443	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		9	33	0	0	0	1	0	9	33				
TBC1D2	55357	broad.mit.edu	37	9	101017691	101017691	+	Missense_Mutation	SNP	G	G	A	rs369711045		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr9:101017691G>A	ENST00000375064.1	-	1	171	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	TBC1D2_ENST00000375066.5_Missense_Mutation_p.P45S|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	45	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGTTTCTTGGGGACCGCCTCC	0.612																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(133-135)Ccc>Tcc		TBC1 domain family, member 2		G	SER/PRO	0,4406		0,0,2203	41.0	47.0	45.0		133	1.4	0.5	9		45	3,8597	3.0+/-9.4	0,3,4297	no	missense	TBC1D2	NM_018421.3	74	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	45/918	101017691	3,13003	2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017691G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.133C>T	9.37:g.101017691G>A	ENSP00000364205:p.Pro45Ser					TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.P45S	p.P45S	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	224	-		Myeloproliferative disorder(762;0.0255)	45			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.133C>T		.	.	.	.	.	.	.	.	.	.	G	10.68	1.417732	0.25552	0.0	3.49E-4	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.09630	3.26;2.96	5.56	1.42	0.22433	Pleckstrin homology domain (1);	0.861930	0.10439	N	0.674521	T	0.08447	0.0210	L	0.37630	1.12	0.80722	D	1	B;B	0.18310	0.008;0.027	B;B	0.16289	0.003;0.015	T	0.16837	-1.0389	10	0.48119	T	0.1	.	4.8826	0.13686	0.082:0.2679:0.513:0.137	.	45;45	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	S	45	ENSP00000364205:P45S;ENSP00000364207:P45S	ENSP00000364205:P45S	P	-	1	0	TBC1D2	100057512	0.013000	0.17824	0.542000	0.28115	0.232000	0.25224	0.074000	0.14662	0.732000	0.32470	0.549000	0.68633	CCC		0.612	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		4	58	0	0	0	1	0	4	58				
HS3ST4	9951	broad.mit.edu	37	16	26147192	26147192	+	Nonsense_Mutation	SNP	C	C	T	rs267604480		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr16:26147192C>T	ENST00000331351.5	+	2	1386	c.994C>T	c.(994-996)Cga>Tga	p.R332*	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	332					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGTGCCATTCGAATAGGGAT	0.552																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(994-996)Cga>Tga		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							189.0	176.0	180.0					16																	26147192		1568	3582	5150	SO:0001587	stop_gained	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147192C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.994C>T	16.37:g.26147192C>T	ENSP00000330606:p.Arg332*					HS3ST4_ENST00000475436.1_3'UTR	p.R332*	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1386	+			332					Q5QI42|Q8NDC2	Nonsense_Mutation	SNP	ENST00000331351.5	37	c.994C>T	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	39	7.381856	0.98248	.	.	ENSG00000182601	ENST00000331351	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	U	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4702	0.61278	0.1564:0.8436:0.0:0.0	.	.	.	.	X	332	.	ENSP00000330606:R332X	R	+	1	2	HS3ST4	26054693	1.000000	0.71417	0.712000	0.30502	0.939000	0.58152	4.671000	0.61590	2.602000	0.87976	0.655000	0.94253	CGA		0.552	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		40	150	0	0	0	1	0	40	150				
LRRC66	339977	broad.mit.edu	37	4	52860601	52860601	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr4:52860601G>T	ENST00000343457.3	-	4	2593	c.2587C>A	c.(2587-2589)Ccc>Acc	p.P863T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	863						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GGATCTGAGGGAACTTCAGCA	0.378																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2587-2589)Ccc>Acc		leucine rich repeat containing 66							92.0	86.0	88.0					4																	52860601		1874	4108	5982	SO:0001583	missense	339977					integral to membrane		g.chr4:52860601G>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2587C>A	4.37:g.52860601G>T	ENSP00000341944:p.Pro863Thr						p.P863T	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2593	-			863						Missense_Mutation	SNP	ENST00000343457.3	37	c.2587C>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423193	0.43020	.	.	ENSG00000188993	ENST00000343457	T	0.28069	1.63	4.57	3.73	0.42828	.	0.286984	0.25506	N	0.030207	T	0.35941	0.0949	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	P	0.58970	0.849	T	0.07520	-1.0768	10	0.62326	D	0.03	-6.1675	8.8043	0.34927	0.1035:0.0:0.8965:0.0	.	863	Q68CR7	LRC66_HUMAN	T	863	ENSP00000341944:P863T	ENSP00000341944:P863T	P	-	1	0	LRRC66	52555358	0.150000	0.22732	0.079000	0.20413	0.009000	0.06853	0.536000	0.23129	1.267000	0.44247	0.591000	0.81541	CCC		0.378	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		19	61	1	0	1.37522e-17	1	1.63409e-17	19	61				
DBT	1629	broad.mit.edu	37	1	100684182	100684182	+	Splice_Site	SNP	A	A	G			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:100684182A>G	ENST00000370132.4	-	5	568	c.555T>C	c.(553-555)aaT>aaC	p.N185N	DBT_ENST00000370131.3_Splice_Site_p.N185N	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	185					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GAGAACTTACATTGTTTTCCA	0.388																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.e5+1		dihydrolipoamide branched chain transacylase E2							139.0	140.0	140.0					1																	100684182		2203	4300	6503	SO:0001630	splice_region_variant	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100684182A>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.555+1T>C	1.37:g.100684182A>G						DBT_ENST00000370131.3_Splice_Site_p.N185_splice	p.N185_splice	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	5	568	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	185					B2R811|Q5VVL8	Splice_Site	SNP	ENST00000370132.4	37	c.555_splice	CCDS767.1																																																																																				0.388	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918	Silent	21	98	0	0	0	1	0	21	98				
TRPA1	8989	broad.mit.edu	37	8	72975038	72975038	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr8:72975038A>C	ENST00000262209.4	-	6	1010	c.803T>G	c.(802-804)gTg>gGg	p.V268G		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	268					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGTTACCTCCACTGGGTCTAT	0.358																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(802-804)gTg>gGg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						122.0	114.0	117.0					8																	72975038		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72975038A>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.803T>G	8.37:g.72975038A>C	ENSP00000262209:p.Val268Gly						p.V268G	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		6	1010	-			268					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.803T>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.541042	0.27563	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.64260	-0.09;-0.09	5.62	-0.464	0.12160	Ankyrin repeat-containing domain (4);	0.722804	0.15181	N	0.276103	T	0.48750	0.1517	L	0.49778	1.585	0.09310	N	0.99999	B	0.28971	0.229	B	0.30401	0.115	T	0.32798	-0.9893	10	0.22109	T	0.4	-1.4249	6.1199	0.20148	0.2329:0.1981:0.0:0.569	.	268	O75762	TRPA1_HUMAN	G	120;268	ENSP00000428151:V120G;ENSP00000262209:V268G	ENSP00000262209:V268G	V	-	2	0	TRPA1	73137592	0.018000	0.18449	0.086000	0.20670	0.033000	0.12548	1.335000	0.33839	0.026000	0.15269	0.528000	0.53228	GTG		0.358	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		21	44	0	0	0	1	0	21	44				
SLC24A3	57419	broad.mit.edu	37	20	19679321	19679321	+	Silent	SNP	C	C	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr20:19679321C>A	ENST00000328041.6	+	15	1913	c.1716C>A	c.(1714-1716)tcC>tcA	p.S572S	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	572					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATTACGGATCCTACGTAAGTG	0.537																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1714-1716)tcC>tcA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							87.0	67.0	74.0					20																	19679321		2203	4299	6502	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19679321C>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1716C>A	20.37:g.19679321C>A							p.S572S	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			15	1913	+			572					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.1716C>A	CCDS13140.1																																																																																				0.537	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		3	9	1	0	0.115264	1	0.115264	3	9				
TMEM69	51249	broad.mit.edu	37	1	46158947	46158947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:46158947delC	ENST00000372025.4	+	3	1271	c.114delC	c.(112-114)ctcfs	p.L38fs	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	38						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATGTCTCTCCAGCAAAACT	0.423																																						ENST00000372025.4																			0				kidney(3)|lung(4)|ovary(1)	8						c.(112-114)ctfs		transmembrane protein 69							261.0	256.0	257.0					1																	46158947		1908	4134	6042	SO:0001589	frameshift_variant	51249					integral to membrane		g.chr1:46158947delC	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.114delC	1.37:g.46158947delC	ENSP00000361095:p.Leu38fs					TMEM69_ENST00000496366.1_3'UTR	p.L38fs	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN			3	1271	+	Acute lymphoblastic leukemia(166;0.155)		38					Q3SWW5|Q7Z2G0|Q9P0P9	Frame_Shift_Del	DEL	ENST00000372025.4	37	c.114delC	CCDS41325.1																																																																																				0.423	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		7	330						7	330	---	---	---	---
MRPL37	51253	broad.mit.edu	37	1	54665941	54665950	+	Frame_Shift_Del	DEL	AGGCGGGCGC	AGGCGGGCGC	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr1:54665941_54665950delAGGCGGGCGC	ENST00000360840.5	+	1	102_111	c.25_34delAGGCGGGCGC	c.(25-36)aggcgggcgctafs	p.RRAL9fs	MRPL37_ENST00000336230.6_5'UTR|MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000542737.1_5'Flank|RP11-446E24.4_ENST00000311841.7_5'Flank|MRPL37_ENST00000605337.1_Frame_Shift_Del_p.RRAL9fs|CYB5RL_ENST00000537208.1_5'Flank	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	9					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L12I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CGGGCCCGCAAGGCGGGCGCTAGCTGGCTC	0.705																																						ENST00000605337.1																			1	Substitution - Missense(1)	p.L12I(1)	kidney(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						c.(25-36)tafs		mitochondrial ribosomal protein L37																																				SO:0001589	frameshift_variant	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54665941_54665950delAGGCGGGCGC	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.25_34delAGGCGGGCGC	1.37:g.54665941_54665950delAGGCGGGCGC	ENSP00000354086:p.Arg9fs					MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Frame_Shift_Del_p.RRAL9fs|MRPL37_ENST00000336230.6_5'UTR	p.RRAL9fs			Q9BZE1	RM37_HUMAN			1	73_82	+			9					Q96Q67|Q9BWR1|Q9P0P3	Frame_Shift_Del	DEL	ENST00000360840.5	37	c.25_34delAGGCGGGCGC	CCDS589.1																																																																																				0.705	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		18	106						18	106	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109707832	109707838	+	Frame_Shift_Del	DEL	TTGATAA	TTGATAA	-			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr13:109707832_109707838delTTGATAA	ENST00000357550.2	+	26	3199_3205	c.3158_3164delTTGATAA	c.(3157-3165)tttgataatfs	p.FDN1053fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.FDN1053fs|MYO16_ENST00000457511.2_Frame_Shift_Del_p.FDN565fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAGATACTTTTGATAATTTTTACGTG	0.415																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3157-3165)ttfs		myosin XVI																																				SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109707832_109707838delTTGATAA		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3158_3164delTTGATAA	13.37:g.109707832_109707838delTTGATAA	ENSP00000350160:p.Phe1053fs					MYO16_ENST00000457511.2_Frame_Shift_Del_p.FDN565fs|MYO16_ENST00000357550.2_Frame_Shift_Del_p.FDN1053fs	p.FDN1053fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		27	3284_3290	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1053			Myosin head-like 2.			Frame_Shift_Del	DEL	ENST00000357550.2	37	c.3158_3164delTTGATAA	CCDS32008.1																																																																																				0.415	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		14	69						14	69	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450598	23450599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr14:23450598_23450599insA	ENST00000262713.2	-	1	1252_1253	c.877_878insT	c.(877-879)cgafs	p.R293fs	RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000556503.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.R293fs	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	293	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										TCCGGCTTCTCGCCCACCGGTG	0.708																																						ENST00000262713.2																			0											c.(877-879)agafs		ajuba LIM protein																																				SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450598_23450599insA	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.877_878insT	14.37:g.23450598_23450599insA	ENSP00000262713:p.Arg293fs					AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.R293fs|RP11-298I3.5_ENST00000555074.1_Intron	p.R293fs	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			1	1252_1253	-			293			PreLIM.		A8MX18|D3DS37	Frame_Shift_Ins	INS	ENST00000262713.2	37	c.877_878insT	CCDS9581.1																																																																																				0.708	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			10	22						10	22	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			3	6						3	6	---	---	---	---
REXO1	57455	broad.mit.edu	37	19	1827021	1827023	+	In_Frame_Del	DEL	GGA	GGA	-	rs367705891		TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:1827021_1827023delGGA	ENST00000170168.4	-	2	1859_1861	c.1765_1767delTCC	c.(1765-1767)tccdel	p.S589del	CTB-31O20.4_ENST00000593201.1_RNA|REXO1_ENST00000587524.1_5'Flank|CTB-31O20.4_ENST00000587741.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTggaggtggaggaggaggag	0.7																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1765-1767)del		REX1, RNA exonuclease 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1827021_1827023delGGA	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1765_1767delTCC	19.37:g.1827030_1827032delGGA	ENSP00000170168:p.Ser589del						p.S589del	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1859_1861	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	589			Ser-rich.		Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	c.1765_1767delTCC	CCDS32866.1																																																																																				0.700	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		2	4						2	4	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089908	56089909	+	In_Frame_Ins	INS	-	-	CCG	rs113850871|rs144853314|rs10643219	byFrequency	TCGA-CV-A460-01A-21D-A25D-08	TCGA-CV-A460-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4b4191-9827-433a-94ea-7e51d6b80c14	ef5a907a-45d4-404d-8a88-c4b6f6e932bd	g.chr19:56089908_56089909insCCG	ENST00000325421.4	-	2	1125_1126	c.1097_1098insCGG	c.(1096-1098)ggg>ggCGGg	p.366_366G>GG	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	366	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G366_Q367insG(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CTCCGTTCTGCCCTTCTCCCCC	0.748														2999	0.598842	0.8986	0.572	5008	,	,		6768	0.2688		0.5169	False		,,,				2504	0.637					ENST00000325421.4																			1	Insertion - In frame(1)	p.G366_Q367insG(1)	upper_aerodigestive_tract(1)	endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1096-1098)gca>gCGGca		zinc finger protein 579				1650,390		778,94,148						-1.7	0.9		dbSNP_132	2	2530,2524		968,594,965	no	coding	ZNF579	NM_152600.2		1746,688,1113	A1A1,A1R,RR		49.9406,19.1176,41.077				4180,2914				SO:0001652	inframe_insertion	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56089908_56089909insCCG	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1097_1098insCGG	19.37:g.56089908_56089909insCCG	ENSP00000320188:p.Gly366dup						p.366_366A>AA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1125_1126	-			366			Gly-rich.			In_Frame_Ins	INS	ENST00000325421.4	37	c.1097_1098insCGG	CCDS12927.1																																																																																				0.748	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		4	2						4	2	---	---	---	---
