#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
FAM21C	253725	broad.mit.edu	37	10	46272820	46272820	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:46272820A>G	ENST00000336378.4	+	22	2354	c.2236A>G	c.(2236-2238)Agt>Ggt	p.S746G	FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000540872.1_Missense_Mutation_p.S748G|FAM21C_ENST00000374362.2_Missense_Mutation_p.S748G|FAM21C_ENST00000359860.4_Missense_Mutation_p.S690G	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	746					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGGTTGAGAGTGCCAAGGA	0.428																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2236-2238)Agt>Ggt		family with sequence similarity 21, member C							137.0	142.0	140.0					10																	46272820		1832	4075	5907	SO:0001583	missense	253725							g.chr10:46272820A>G		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2236A>G	10.37:g.46272820A>G	ENSP00000337541:p.Ser746Gly					FAM21C_ENST00000540872.1_Missense_Mutation_p.S748G|FAM21C_ENST00000359860.4_Missense_Mutation_p.S690G|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000374362.2_Missense_Mutation_p.S748G	p.S746G	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			22	2354	+			748					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.2236A>G		.	.	.	.	.	.	.	.	.	.	A	2.677	-0.276128	0.05679	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	2.45	-0.0725	0.13739	.	1.887750	0.02271	N	0.068472	T	0.33847	0.0877	L	0.41027	1.25	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.15870	0.014;0.014	T	0.12091	-1.0561	9	0.34782	T	0.22	-0.7848	4.6983	0.12815	0.6876:0.0:0.3124:0.0	.	748;746	Q9Y4E1-4;Q9Y4E1	.;FA21C_HUMAN	G	746;748;748;748;690;660	.	ENSP00000337541:S746G	S	+	1	0	FAM21C	45592826	0.000000	0.05858	0.001000	0.08648	0.336000	0.28762	0.564000	0.23563	-0.012000	0.14223	0.241000	0.17934	AGT		0.428	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	140	0	0	0	1	0	8	140				
EEF1B2	1933	broad.mit.edu	37	2	207025333	207025333	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207025333T>C	ENST00000392222.2	+	2	477	c.102T>C	c.(100-102)gaT>gaC	p.D34D	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000423725.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.D34D|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.D34D	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	34	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CACAAGCAGATGTGGCAGTAT	0.458																																						ENST00000392222.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(100-102)gaT>gaC		eukaryotic translation elongation factor 1 beta 2							102.0	93.0	96.0					2																	207025333		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025333T>C	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.102T>C	2.37:g.207025333T>C						EEF1B2_ENST00000236957.5_Silent_p.D34D|EEF1B2_ENST00000392221.1_Silent_p.D34D	p.D34D	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	477	+			34			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.102T>C	CCDS2367.1																																																																																				0.458	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		20	60	0	0	0	1	0	20	60				
DNAI1	27019	broad.mit.edu	37	9	34517405	34517405	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34517405C>T	ENST00000242317.4	+	19	2112	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	647					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATTGTGGGCGATGACCGTG	0.532									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1939-1941)ggC>ggT		dynein, axonemal, intermediate chain 1							156.0	119.0	132.0					9																	34517405		2203	4300	6503	SO:0001819	synonymous_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34517405C>T	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1941C>T	9.37:g.34517405C>T							p.G647G	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	19	2112	+	all_epithelial(49;0.244)		647					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	c.1941C>T	CCDS6557.1																																																																																				0.532	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			13	37	0	0	0	1	0	13	37				
MTM1	4534	broad.mit.edu	37	X	149831996	149831996	+	Nonsense_Mutation	SNP	C	C	T	rs398123271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:149831996C>T	ENST00000370396.2	+	14	1612	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	520	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCAATCGAGTTTTATA	0.373																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	GRCh37	CM001733	MTM1	M		c.(1558-1560)Cga>Tga		myotubularin 1							73.0	65.0	68.0					X																	149831996		2203	4300	6503	SO:0001587	stop_gained	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149831996C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1558C>T	X.37:g.149831996C>T	ENSP00000359423:p.Arg520*					MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	p.R520*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			14	1612	+	Acute lymphoblastic leukemia(192;6.56e-05)		520			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	ENST00000370396.2	37	c.1558C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	38	7.057119	0.98032	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	.	.	.	X	520;405;483	.	ENSP00000359423:R520X	R	+	1	2	MTM1	149582654	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	3.390000	0.52523	2.242000	0.73789	0.513000	0.50165	CGA		0.373	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		8	33	0	0	0	1	0	8	33				
AHCYL2	23382	broad.mit.edu	37	7	129064719	129064719	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129064719G>A	ENST00000325006.3	+	14	1619	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	AHCYL2_ENST00000490911.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R420H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R441H|AHCYL2_ENST00000474594.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R521H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	522					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CACTAGGGCCGCCTGCTGAAC	0.493																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1564-1566)cGc>cAc		adenosylhomocysteinase-like 2							145.0	125.0	132.0					7																	129064719		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129064719G>A	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1565G>A	7.37:g.129064719G>A	ENSP00000315931:p.Arg522His					AHCYL2_ENST00000474594.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000446212.1_Missense_Mutation_p.R420H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R521H|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R441H	p.R522H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			14	1619	+			522					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1565G>A	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.464989|4.464989	0.84425|0.84425	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.81163	.|-1.46;-1.46;-1.44;-1.43;-1.43;-1.43	5.7|5.7	5.7|5.7	0.88788|0.88788	.|S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85358|0.85358	0.5678|0.5678	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	.|B;B;P;B;P	.|0.37061	.|0.233;0.146;0.58;0.146;0.524	.|B;B;B;B;B	.|0.33042	.|0.102;0.07;0.157;0.07;0.097	D|D	0.88115|0.88115	0.2828|0.2828	5|10	.|0.87932	.|D	.|0	-10.4292|-10.4292	18.3949|18.3949	0.90495|0.90495	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|419;420;522;419;521	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	T|H	429|522;521;441;419;420;419	.|ENSP00000315931:R522H;ENSP00000413639:R521H;ENSP00000431787:R441H;ENSP00000420459:R419H;ENSP00000405267:R420H;ENSP00000420801:R419H	.|ENSP00000315931:R522H	A|R	+|+	1|2	0|0	AHCYL2|AHCYL2	128851955|128851955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.773000|9.773000	0.98989|0.98989	2.681000|2.681000	0.91329|0.91329	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.493	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			17	79	0	0	0	1	0	17	79				
ZNF184	7738	broad.mit.edu	37	6	27420591	27420591	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:27420591G>T	ENST00000211936.6	-	6	1031	c.747C>A	c.(745-747)ccC>ccA	p.P249P	ZNF184_ENST00000377419.1_Silent_p.P249P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P249P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACATTTGTAGGGTTTTTCTC	0.348																																						ENST00000211936.6																			1	Substitution - coding silent(1)	p.P249P(1)	endometrium(1)	breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(745-747)ccC>ccA		zinc finger protein 184							119.0	125.0	123.0					6																	27420591		2203	4300	6503	SO:0001819	synonymous_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420591G>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.747C>A	6.37:g.27420591G>T						ZNF184_ENST00000377419.1_Silent_p.P249P	p.P249P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	1031	-			249					B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	c.747C>A	CCDS4624.1																																																																																				0.348	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		47	117	1	0	1.61004e-24	1	1.69461e-24	47	117				
CYP3A7	1551	broad.mit.edu	37	7	99305556	99305556	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99305556T>C	ENST00000336374.2	-	12	1297	c.1295A>G	c.(1294-1296)tAc>tGc	p.Y432C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	432					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AAAGGGTGTGTATATGTAAGG	0.388																																						ENST00000336374.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1294-1296)tAc>tGc		cytochrome P450, family 3, subfamily A, polypeptide 7							373.0	333.0	347.0					7																	99305556		2203	4300	6503	SO:0001583	missense	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99305556T>C	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1295A>G	7.37:g.99305556T>C	ENSP00000337450:p.Tyr432Cys						p.Y432C	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN			12	1297	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		432					A4D288|Q9H241	Missense_Mutation	SNP	ENST00000336374.2	37	c.1295A>G	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	t	9.820	1.185504	0.21870	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.72505	-0.66	3.74	2.44	0.29823	.	0.123210	0.56097	D	0.000023	D	0.87633	0.6226	H	0.98351	4.21	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.77078	-0.2721	10	0.87932	D	0	.	6.0164	0.19605	0.3784:0.0:0.0:0.6216	.	432	P24462	CP3A7_HUMAN	C	432	ENSP00000337450:Y432C	ENSP00000292414:Y432C	Y	-	2	0	CYP3A7	99143492	0.122000	0.22280	0.010000	0.14722	0.300000	0.27592	0.270000	0.18607	1.459000	0.47892	0.402000	0.26972	TAC		0.388	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1			7	162	0	0	0	1	0	7	162				
AMPD3	272	broad.mit.edu	37	11	10503681	10503681	+	Silent	SNP	G	G	A	rs147701905	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503681G>A	ENST00000396554.3	+	4	866	c.525G>A	c.(523-525)gcG>gcA	p.A175A	AMPD3_ENST00000444303.2_Silent_p.A7A	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A175A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAGTATGCGCGGCTCGCCT	0.612													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18353	0.0		0.0	False		,,,				2504	0.0					ENST00000444303.2																			1	Substitution - coding silent(1)	p.A175A(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(19-21)gcG>gcA		adenosine monophosphate deaminase 3		G	,,,,	2,4400	6.2+/-15.9	0,2,2199	109.0	115.0	113.0		525,498,519,498,21	-10.1	0.0	11	dbSNP_134	113	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	0,2,6493	AA,AG,GG		0.0,0.0454,0.0154	,,,,	175/777,166/768,173/775,166/768,7/609	10503681	2,12988	2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10503681G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.525G>A	11.37:g.10503681G>A						AMPD3_ENST00000396554.3_Silent_p.A175A	p.A7A	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	493	+			166					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.21G>A	CCDS7802.1																																																																																				0.612	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		52	130	0	0	0	1	0	52	130				
C5orf38	153571	broad.mit.edu	37	5	2755291	2755291	+	3'UTR	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:2755291C>T	ENST00000334000.3	+	0	670				C5orf38_ENST00000397835.4_Missense_Mutation_p.S161L|IRX2_ENST00000502957.1_5'Flank	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38							extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		ccggggcgctcgccgggcgcg	0.791																																						ENST00000397835.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(481-483)tCg>tTg		chromosome 5 open reading frame 38																																				SO:0001624	3_prime_UTR_variant	153571					extracellular region		g.chr5:2755291C>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.*136C>T	5.37:g.2755291C>T						C5orf38_ENST00000334000.3_3'UTR	p.S161L			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	3	482	+			47						Missense_Mutation	SNP	ENST00000334000.3	37	c.482C>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040173	0.35989	.	.	ENSG00000186493	ENST00000397835	.	.	.	2.76	-3.45	0.04781	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34153	-0.9840	4	.	.	.	.	8.5749	0.33592	0.0:0.235:0.6466:0.1184	.	.	.	.	L	161	.	.	S	+	2	0	C5orf38	2808291	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.929000	0.03976	-0.865000	0.04073	-0.518000	0.04402	TCG		0.791	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		11	18	0	0	0	1	0	11	18				
UHRF1BP1	54887	broad.mit.edu	37	6	34824040	34824040	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:34824040G>A	ENST00000192788.5	+	10	1316	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R382H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	382							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATTGGGTACGCCACTGTGAG	0.468																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1144-1146)cGc>cAc		UHRF1 binding protein 1							130.0	137.0	135.0					6																	34824040		2050	4199	6249	SO:0001583	missense	54887							g.chr6:34824040G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1145G>A	6.37:g.34824040G>A	ENSP00000192788:p.Arg382His					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R382H	p.R382H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			10	1316	+			382					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1145G>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	g	12.60	1.986111	0.35036	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08896	3.04;3.04	5.67	3.9	0.45041	.	0.127712	0.50627	N	0.000112	T	0.03827	0.0108	N	0.25890	0.77	0.47949	D	0.999551	D	0.64830	0.994	P	0.49683	0.619	T	0.53078	-0.8489	10	0.24483	T	0.36	-11.9209	11.1107	0.48230	0.1435:0.0:0.8565:0.0	.	382	Q6BDS2	URFB1_HUMAN	H	382	ENSP00000192788:R382H;ENSP00000400628:R382H	ENSP00000192788:R382H	R	+	2	0	UHRF1BP1	34932018	0.976000	0.34144	0.367000	0.25926	0.961000	0.63080	2.763000	0.47605	0.874000	0.35823	-0.119000	0.15052	CGC		0.468	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		49	160	0	0	0	1	0	49	160				
LPCAT1	79888	broad.mit.edu	37	5	1470989	1470989	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:1470989G>A	ENST00000283415.3	-	12	1362	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	410	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCCGGCAGACGACAGACAGGG	0.657																																						ENST00000283415.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1228-1230)gtC>gtT		lysophosphatidylcholine acyltransferase 1							75.0	79.0	78.0					5																	1470989		2203	4300	6503	SO:0001819	synonymous_variant	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1470989G>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1230C>T	5.37:g.1470989G>A							p.V410V	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	12	1362	-			410			EF-hand 1.		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	c.1230C>T	CCDS3864.1																																																																																				0.657	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		40	103	0	0	0	1	0	40	103				
PMS2P3	5387	broad.mit.edu	37	7	75140296	75140296	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:75140296G>A	ENST00000418756.1	-	0	1331				Y_RNA_ENST00000364004.1_RNA	NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						CACAGGTAGCGTAGAAAATAA	0.443																																					NSCLC(70;602 1339 5301 18528 38453)	ENST00000418756.1																			0				lung(1)	1																																														0							g.chr7:75140296G>A	D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75140296G>A								NR_028059.1						0	1331	-								A6NG70|Q3MJ29	RNA	SNP	ENST00000418756.1	37																																																																																						0.443	PMS2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000342862.2	NR_028059		7	116	0	0	0	1	0	7	116				
CNDP1	84735	broad.mit.edu	37	18	72228166	72228166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72228166G>A	ENST00000358821.3	+	4	607	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.V84M	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	127						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAAAGGCACCGTGTGCTTCTA	0.602																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(250-252)Gtg>Atg		carnosine dipeptidase 1 (metallopeptidase M20 family)							117.0	113.0	114.0					18																	72228166		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228166G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.379G>A	18.37:g.72228166G>A	ENSP00000351682:p.Val127Met					CNDP1_ENST00000358821.3_Missense_Mutation_p.V127M|CNDP1_ENST00000585136.1_Intron	p.V84M			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	316	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	127					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.250G>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579263	0.65878	.	.	ENSG00000150656	ENST00000358821	T	0.11277	2.79	4.93	4.93	0.64822	.	0.137561	0.47852	D	0.000212	T	0.38558	0.1045	M	0.90082	3.085	0.58432	D	0.999998	D	0.89917	1.0	D	0.72338	0.977	T	0.43766	-0.9371	10	0.87932	D	0	-29.7097	12.6139	0.56565	0.0824:0.0:0.9176:0.0	.	127	Q96KN2	CNDP1_HUMAN	M	127	ENSP00000351682:V127M	ENSP00000351682:V127M	V	+	1	0	CNDP1	70379146	1.000000	0.71417	0.935000	0.37517	0.570000	0.35934	4.174000	0.58256	2.280000	0.76307	0.655000	0.94253	GTG		0.602	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		12	194	0	0	0	1	0	12	194				
MYOT	9499	broad.mit.edu	37	5	137206474	137206474	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137206474G>A	ENST00000239926.4	+	2	508	c.134G>A	c.(133-135)cGc>cAc	p.R45H	MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	45					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCAGCCCCGCCAGTGTACA	0.537																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(133-135)cGc>cAc		myotilin							124.0	118.0	120.0					5																	137206474		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137206474G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.134G>A	5.37:g.137206474G>A	ENSP00000239926:p.Arg45His					RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000421631.2_Intron	p.R45H	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		2	508	+			45					A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.134G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456203	0.84317	.	.	ENSG00000120729	ENST00000239926	T	0.68331	-0.32	5.72	4.85	0.62838	.	0.404164	0.23817	N	0.044277	T	0.65004	0.2650	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	T	0.59710	-0.7403	10	0.14656	T	0.56	.	13.4603	0.61223	0.0726:0.0:0.9274:0.0	.	45	Q9UBF9	MYOTI_HUMAN	H	45	ENSP00000239926:R45H	ENSP00000239926:R45H	R	+	2	0	MYOT	137234373	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.681000	0.54648	1.557000	0.49525	0.650000	0.86243	CGC		0.537	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		58	76	0	0	0	1	0	58	76				
RAB11FIP1	80223	broad.mit.edu	37	8	37730604	37730604	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:37730604G>A	ENST00000330843.4	-	4	1728	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	572	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGATGCCTGGCCAGAGCTAG	0.557																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1714-1716)ggC>ggT		RAB11 family interacting protein 1 (class I)							65.0	58.0	61.0					8																	37730604		2203	4300	6503	SO:0001819	synonymous_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730604G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1716C>T	8.37:g.37730604G>A						RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	p.G572G	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	1728	-		Lung NSC(58;0.118)|all_lung(54;0.195)	572			Ser-rich.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	ENST00000330843.4	37	c.1716C>T	CCDS34882.1																																																																																				0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		29	87	0	0	0	1	0	29	87				
DHRS1	115817	broad.mit.edu	37	14	24760345	24760345	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24760345C>T	ENST00000288111.7	-	8	1081	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	DHRS1_ENST00000559088.1_5'UTR|DHRS1_ENST00000396813.1_Splice_Site_p.G269S	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	269						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GGGTCCTCACCGTCCACATCC	0.597																																						ENST00000288111.7																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.e8+1		dehydrogenase/reductase (SDR family) member 1							99.0	82.0	88.0					14																	24760345		2203	4300	6503	SO:0001630	splice_region_variant	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24760345C>T	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.805+1G>A	14.37:g.24760345C>T						DHRS1_ENST00000396813.1_Splice_Site_p.G269_splice|DHRS1_ENST00000559088.1_5'UTR	p.G269_splice	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	8	1081	-			269					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Splice_Site	SNP	ENST00000288111.7	37	c.805_splice	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631939	0.87660	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.86865	-2.18;-2.18	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96159	0.9114	9	.	.	.	-17.5333	14.3229	0.66499	0.0:1.0:0.0:0.0	.	269	Q96LJ7	DHRS1_HUMAN	S	269	ENSP00000288111:G269S;ENSP00000380027:G269S	.	G	-	1	0	DHRS1	23830185	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	6.275000	0.72594	2.427000	0.82271	0.467000	0.42956	GGC		0.597	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452	Missense_Mutation	8	32	0	0	0	1	0	8	32				
TTYH3	80727	broad.mit.edu	37	7	2691855	2691855	+	Silent	SNP	C	C	T	rs368779405	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2691855C>T	ENST00000258796.7	+	8	1111	c.906C>T	c.(904-906)cgC>cgT	p.R302R	TTYH3_ENST00000403167.1_Silent_p.R131R|TTYH3_ENST00000407643.1_Silent_p.R270R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	302					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCTCGCCCCGCGCCGCCAACC	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		20730	0.001		0.0	False		,,,				2504	0.001					ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(904-906)cgC>cgT		tweety family member 3		C		0,4406		0,0,2203	49.0	38.0	41.0		906	-8.2	0.0	7		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TTYH3	NM_025250.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		302/524	2691855	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2691855C>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.906C>T	7.37:g.2691855C>T						TTYH3_ENST00000407643.1_Silent_p.R270R|TTYH3_ENST00000403167.1_Silent_p.R131R	p.R302R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	8	1111	+		Ovarian(82;0.0112)	302					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Silent	SNP	ENST00000258796.7	37	c.906C>T	CCDS34588.1																																																																																				0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		7	52	0	0	0	1	0	7	52				
DARS2	55157	broad.mit.edu	37	1	173822937	173822937	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:173822937G>A	ENST00000361951.4	+	15	2295	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	523					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTCTAGGCCCGTAGCCAACAC	0.388																																						ENST00000361951.4																			0				breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30						c.(1567-1569)cGt>cAt		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						106.0	109.0	108.0					1																	173822937		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173822937G>A	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1568G>A	1.37:g.173822937G>A	ENSP00000355086:p.Arg523His					DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	p.R523H	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN			15	2295	+			523						Missense_Mutation	SNP	ENST00000361951.4	37	c.1568G>A	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183777	0.94885	.	.	ENSG00000117593	ENST00000361951	T	0.80033	-1.33	4.65	4.65	0.58169	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.055932	0.64402	D	0.000001	D	0.87450	0.6180	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88529	0.3101	10	0.59425	D	0.04	-15.4489	16.6683	0.85259	0.0:0.0:1.0:0.0	.	523	Q6PI48	SYDM_HUMAN	H	523	ENSP00000355086:R523H	ENSP00000355086:R523H	R	+	2	0	DARS2	172089560	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	9.447000	0.97595	2.304000	0.77564	0.591000	0.81541	CGT		0.388	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		24	66	0	0	0	1	0	24	66				
BMP5	653	broad.mit.edu	37	6	55638931	55638931	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:55638931C>T	ENST00000370830.3	-	4	1641	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	BMP5_ENST00000446683.2_Missense_Mutation_p.V315M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	315					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTCTCACGGATCGAAGA	0.468																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(943-945)Gtg>Atg		bone morphogenetic protein 5							213.0	182.0	193.0					6																	55638931		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638931C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.943G>A	6.37:g.55638931C>T	ENSP00000359866:p.Val315Met					BMP5_ENST00000446683.2_Missense_Mutation_p.V315M	p.V315M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1641	-	Lung NSC(77;0.0462)		315					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.943G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.330819	0.81690	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72942	-0.7;-0.3	5.74	4.88	0.63580	.	0.053556	0.64402	D	0.000001	T	0.56307	0.1976	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.59487	0.858;0.765	T	0.68085	-0.5502	10	0.49607	T	0.09	.	14.9595	0.71144	0.0:0.9313:0.0:0.0687	.	315;315	B4E0Y4;P22003	.;BMP5_HUMAN	M	315	ENSP00000359866:V315M;ENSP00000391818:V315M	ENSP00000359866:V315M	V	-	1	0	BMP5	55746890	1.000000	0.71417	0.933000	0.37362	0.960000	0.62799	5.757000	0.68766	1.423000	0.47198	0.655000	0.94253	GTG		0.468	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			32	108	0	0	0	1	0	32	108				
SOX6	55553	broad.mit.edu	37	11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502																																						ENST00000352083.6																			1	Substitution - Missense(1)	p.R122C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(364-366)Cgc>Tgc		SRY (sex determining region Y)-box 6							196.0	183.0	187.0					11																	16340073		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16340073G>A	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.364C>T	11.37:g.16340073G>A	ENSP00000339876:p.Arg122Cys					SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR	p.R122C			P35712	SOX6_HUMAN			3	441	-			122					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.364C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.126131	0.94429	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429;ENST00000533411;ENST00000526673	D;D;D;D;D;D	0.98947	-5.26;-5.22;-5.26;-4.94;-4.94;-5.22	5.28	5.28	0.74379	.	0.063248	0.64402	D	0.000006	D	0.99067	0.9680	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.995	D	0.99875	1.1102	10	0.87932	D	0	.	19.2735	0.94021	0.0:0.0:1.0:0.0	.	122;122;122;122;125	E9PQ78;E9PQL4;P35712-3;P35712;P35712-2	.;.;.;SOX6_HUMAN;.	C	122;122;122;122;125;122;122;122	ENSP00000324948:R122C;ENSP00000339876:R122C;ENSP00000379644:R122C;ENSP00000432134:R122C;ENSP00000434455:R125C;ENSP00000433233:R122C	ENSP00000324948:R122C	R	-	1	0	SOX6	16296649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.341000	0.97041	2.632000	0.89209	0.591000	0.81541	CGC		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		71	151	0	0	0	1	0	71	151				
RHOD	29984	broad.mit.edu	37	11	66834316	66834316	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66834316C>T	ENST00000308831.2	+	3	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R110W	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	110					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						CATCTTTAACCGGGTAGGTAC	0.617																																						ENST00000308831.2																			0				lung(3)	3						c.(328-330)Cgg>Tgg		ras homolog family member D							96.0	87.0	90.0					11																	66834316		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834316C>T	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.328C>T	11.37:g.66834316C>T	ENSP00000308576:p.Arg110Trp					RHOD_ENST00000533360.1_Missense_Mutation_p.R110W|RHOD_ENST00000532559.1_Intron	p.R110W	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN			3	413	+			110						Missense_Mutation	SNP	ENST00000308831.2	37	c.328C>T	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354003	0.61293	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.65549	-0.16;-0.16	3.9	1.94	0.25998	Small GTP-binding protein domain (1);	0.000000	0.43416	D	0.000562	T	0.68997	0.3062	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.67377	-0.5686	10	0.87932	D	0	-9.9421	4.6207	0.12449	0.2155:0.6704:0.0:0.1141	.	110	O00212	RHOD_HUMAN	W	110	ENSP00000308576:R110W;ENSP00000431167:R110W	ENSP00000308576:R110W	R	+	1	2	RHOD	66590892	0.041000	0.20044	0.918000	0.36340	0.093000	0.18481	0.077000	0.14738	0.571000	0.29365	0.561000	0.74099	CGG		0.617	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		36	83	0	0	0	1	0	36	83				
C2	717	broad.mit.edu	37	6	31896622	31896622	+	Missense_Mutation	SNP	C	C	T	rs200459401		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31896622C>T	ENST00000299367.5	+	3	646	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	C2_ENST00000442278.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R124W|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.R124W	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	124	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CTTCATATTGCGGGGCTCGCC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18883	0.0		0.001	False		,,,				2504	0.0					ENST00000477310.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(370-372)Cgg>Tgg		complement factor B							110.0	93.0	99.0					6																	31896622		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31896622C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.370C>T	6.37:g.31896622C>T	ENSP00000299367:p.Arg124Trp					C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R124W|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R124W|C2_ENST00000452323.2_Intron	p.R124W			P00751	CFAB_HUMAN			3	399	+			138			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.370C>T	CCDS4728.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.1	4.975738	0.92982	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000418949;ENST00000477310	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	0.263285	0.20265	N	0.095784	T	0.76278	0.3965	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;0.988;1.0	D;P;D	0.79108	0.975;0.722;0.992	T	0.78687	-0.2107	9	0.87932	D	0	-19.0604	16.5139	0.84294	0.0:1.0:0.0:0.0	.	95;124;124	B4DV48;P06681;Q8N6L6	.;CO2_HUMAN;.	W	124	ENSP00000403325:R124W;ENSP00000299367:R124W;ENSP00000406190:R124W;ENSP00000418996:R124W	ENSP00000299367:R124W	R	+	1	2	C2;XXbac-BPG116M5.17	32004601	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.047000	0.41269	2.646000	0.89796	0.491000	0.48974	CGG		0.567	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			27	71	0	0	0	1	0	27	71				
DEPDC5	9681	broad.mit.edu	37	22	32200866	32200866	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32200866C>T	ENST00000382112.3	+	16	1252	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	DEPDC5_ENST00000382111.2_Silent_p.G394G|DEPDC5_ENST00000400246.1_Silent_p.G394G|DEPDC5_ENST00000400249.2_Silent_p.G394G|DEPDC5_ENST00000382105.2_Silent_p.G394G|DEPDC5_ENST00000400248.2_Silent_p.G394G|DEPDC5_ENST00000400242.3_Silent_p.G394G|DEPDC5_ENST00000266091.3_Silent_p.G394G|DEPDC5_ENST00000536766.1_Silent_p.G366G|DEPDC5_ENST00000535622.1_Silent_p.G394G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	394					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.G394G(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCGTCTGGGCGATGACTATA	0.453																																						ENST00000400246.1																			1	Substitution - coding silent(1)	p.G394G(1)	central_nervous_system(1)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1180-1182)ggC>ggT		DEP domain containing 5							210.0	197.0	201.0					22																	32200866		1911	4137	6048	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32200866C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1182C>T	22.37:g.32200866C>T						DEPDC5_ENST00000266091.3_Silent_p.G394G|DEPDC5_ENST00000400248.1_Silent_p.G394G|DEPDC5_ENST00000400249.2_Silent_p.G394G|DEPDC5_ENST00000382105.2_Silent_p.G394G|DEPDC5_ENST00000382111.2_Silent_p.G394G|DEPDC5_ENST00000382112.3_Silent_p.G394G|DEPDC5_ENST00000536766.1_Silent_p.G366G|DEPDC5_ENST00000535622.1_Silent_p.G394G|DEPDC5_ENST00000400242.3_Silent_p.G394G	p.G394G			O75140	DEPD5_HUMAN			17	1324	+			394					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1182C>T	CCDS46692.1																																																																																				0.453	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		19	181	0	0	0	1	0	19	181				
ZFAND2A	90637	broad.mit.edu	37	7	1192812	1192812	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:1192812G>A	ENST00000316495.3	-	5	590	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	ZFAND2A_ENST00000401903.1_Silent_p.L111L	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	111					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		ACCATCTGCAGCATCTCTTTC	0.483																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.(331-333)Ctg>Ttg		zinc finger, AN1-type domain 2A							164.0	126.0	139.0					7																	1192812		2203	4300	6503	SO:0001819	synonymous_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1192812G>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.331C>T	7.37:g.1192812G>A						ZFAND2A_ENST00000316495.3_Silent_p.L111L	p.L111L			Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	5	590	-		Ovarian(82;0.11)	111					A4D220	Silent	SNP	ENST00000316495.3	37	c.331C>T	CCDS5323.1																																																																																				0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		6	78	0	0	0	1	0	6	78				
GGT7	2686	broad.mit.edu	37	20	33451235	33451235	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33451235C>T	ENST00000336431.5	-	2	330	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	96					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCGGCCGCTGCGGCGGAGAAC	0.672																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(286-288)Gca>Aca		gamma-glutamyltransferase 7							34.0	29.0	31.0					20																	33451235		2201	4299	6500	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33451235C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.286G>A	20.37:g.33451235C>T	ENSP00000338964:p.Ala96Thr						p.A96T	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			2	330	-			96					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.286G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473499	0.63737	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.32988	3.51;1.43	5.26	5.26	0.73747	.	0.089222	0.45867	D	0.000326	T	0.34832	0.0911	N	0.08118	0	0.32127	N	0.587222	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.959;0.959	T	0.47923	-0.9079	10	0.62326	D	0.03	-19.01	14.4061	0.67083	0.0:1.0:0.0:0.0	.	96;96;96	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	T	96;113	ENSP00000338964:A96T;ENSP00000394993:A113T	ENSP00000338964:A96T	A	-	1	0	GGT7	32914896	1.000000	0.71417	0.332000	0.25469	0.058000	0.15608	6.077000	0.71275	2.472000	0.83506	0.650000	0.86243	GCA		0.672	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		13	26	0	0	0	1	0	13	26				
SRCIN1	80725	broad.mit.edu	37	17	36734841	36734841	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:36734841C>T	ENST00000264659.7	-	2	450	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A76T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TTGCGGTCGGCGTCCGCCTTC	0.677																																						ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(226-228)Gcc>Acc		SRC kinase signaling inhibitor 1							25.0	29.0	28.0					17																	36734841		1997	4152	6149	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36734841C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.226G>A	17.37:g.36734841C>T	ENSP00000264659:p.Ala76Thr					SRCIN1_ENST00000578925.1_Missense_Mutation_p.A76T	p.A76T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			2	450	-			83					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.226G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896031	0.72639	.	.	ENSG00000017373	ENST00000264659	T	0.66460	-0.21	4.76	3.78	0.43462	.	0.259797	0.35838	N	0.002949	T	0.46852	0.1414	.	.	.	0.31782	N	0.630757	P	0.46327	0.876	B	0.33295	0.161	T	0.62139	-0.6917	9	0.66056	D	0.02	-17.9475	6.3756	0.21505	0.0:0.7944:0.0:0.2056	.	76	Q9C0H9-5	.	T	76	ENSP00000264659:A76T	ENSP00000264659:A76T	A	-	1	0	SRCIN1	33988367	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	4.408000	0.59761	2.173000	0.68751	0.561000	0.74099	GCC		0.677	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		12	18	0	0	0	1	0	12	18				
TLN2	83660	broad.mit.edu	37	15	62985084	62985084	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62985084G>A	ENST00000561311.1	+	12	1389	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.E387K			Q9Y4G6	TLN2_HUMAN	talin 2	387	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with PIP5K1C. {ECO:0000250}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E387K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAACCACCGAGGGAGAGCA	0.388																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.E387K(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1159-1161)Gag>Aag		talin 2							143.0	128.0	133.0					15																	62985084		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62985084G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1159G>A	15.37:g.62985084G>A	ENSP00000453508:p.Glu387Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.E387K	p.E387K			Q9Y4G6	TLN2_HUMAN			12	1389	+			387			FERM.|Interaction with PIP5K1C (By similarity).		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1159G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461517	0.96240	.	.	ENSG00000171914	ENST00000306829	T	0.73681	-0.77	5.51	5.51	0.81932	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.83312	2.635	0.80722	D	1	D	0.57257	0.979	P	0.48368	0.575	D	0.85547	0.1219	10	0.87932	D	0	-32.3759	19.7828	0.96424	0.0:0.0:1.0:0.0	.	387	Q9Y4G6	TLN2_HUMAN	K	387	ENSP00000303476:E387K	ENSP00000303476:E387K	E	+	1	0	TLN2	60772376	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	9.715000	0.98748	2.747000	0.94245	0.650000	0.86243	GAG		0.388	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			23	59	0	0	0	1	0	23	59				
CDH15	1013	broad.mit.edu	37	16	89245892	89245892	+	Silent	SNP	G	G	A	rs373216025		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89245892G>A	ENST00000289746.2	+	2	176	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	37					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGCCGGGCGCCTGCCCTGA	0.657																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(109-111)gcG>gcA		cadherin 15, type 1, M-cadherin (myotubule)		G		1,4395	2.1+/-5.4	0,1,2197	82.0	82.0	82.0		111	-9.1	0.0	16		82	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CDH15	NM_004933.2		0,5,6493	AA,AG,GG		0.0465,0.0227,0.0385		37/815	89245892	5,12991	2198	4300	6498	SO:0001819	synonymous_variant	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89245892G>A	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.111G>A	16.37:g.89245892G>A						CDH15_ENST00000521087.1_3'UTR	p.A37A	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	2	176	+			37						Silent	SNP	ENST00000289746.2	37	c.111G>A	CCDS10976.1																																																																																				0.657	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		35	87	0	0	0	1	0	35	87				
EMILIN2	84034	broad.mit.edu	37	18	2891121	2891121	+	Silent	SNP	C	C	T	rs560726648		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2891121C>T	ENST00000254528.3	+	4	1155	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	332					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCATGGAGGGCATGGACAGAA	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.0					ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(994-996)ggC>ggT		elastin microfibril interfacer 2							112.0	116.0	114.0					18																	2891121		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891121C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.996C>T	18.37:g.2891121C>T							p.G332G	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1155	+			332					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.996C>T	CCDS11828.1																																																																																				0.547	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		28	103	0	0	0	1	0	28	103				
PTPRK	5796	broad.mit.edu	37	6	128388750	128388750	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:128388750G>A	ENST00000368215.3	-	12	2070	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	PTPRK_ENST00000368227.3_Missense_Mutation_p.R691W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R691W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R691W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R691W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R691W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R691W|RP11-103C16.2_ENST00000417390.1_RNA			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	691					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGTAGGTCCGATTGTCACCC	0.542																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2071-2073)Cgg>Tgg		protein tyrosine phosphatase, receptor type, K							98.0	96.0	97.0					6																	128388750		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128388750G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2071C>T	6.37:g.128388750G>A	ENSP00000357198:p.Arg691Trp					PTPRK_ENST00000368207.3_Missense_Mutation_p.R691W|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R691W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R691W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R691W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R691W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R691W|RP11-103C16.2_ENST00000417390.1_RNA	p.R691W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	12	2437	-			691					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2071C>T		.	.	.	.	.	.	.	.	.	.	G	18.83	3.707070	0.68615	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08720	3.07;3.06;3.07;3.07;3.06;3.07;3.08	5.67	-2.33	0.06724	.	0.094413	0.64402	D	0.000001	T	0.09113	0.0225	L	0.36672	1.1	0.38421	D	0.94618	D;D;D;D;D;D	0.71674	0.993;0.995;0.997;0.998;0.988;0.993	P;P;P;D;P;P	0.63283	0.727;0.757;0.877;0.913;0.545;0.733	T	0.00353	-1.1795	10	0.87932	D	0	.	17.6268	0.88096	0.0:0.0:0.6319:0.3681	.	691;691;691;548;691;691	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	W	691;691;691;691;691;691;691;548	ENSP00000357209:R691W;ENSP00000357210:R691W;ENSP00000432973:R691W;ENSP00000357196:R691W;ENSP00000357193:R691W;ENSP00000357198:R691W;ENSP00000357190:R691W	ENSP00000357190:R691W	R	-	1	2	PTPRK	128430443	0.996000	0.38824	0.063000	0.19743	0.982000	0.71751	0.788000	0.26872	-0.625000	0.05604	-0.266000	0.10368	CGG		0.542	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			30	88	0	0	0	1	0	30	88				
NTN1	9423	broad.mit.edu	37	17	9066240	9066240	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:9066240G>A	ENST00000173229.2	+	3	1236	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	NTN1_ENST00000538852.1_Missense_Mutation_p.G377S|NTN1_ENST00000546090.1_Missense_Mutation_p.G377S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	377	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAACACCGCCGGCCGCCACTG	0.647																																						ENST00000173229.2																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1129-1131)Ggc>Agc		netrin 1							28.0	22.0	24.0					17																	9066240		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066240G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1129G>A	17.37:g.9066240G>A	ENSP00000173229:p.Gly377Ser					NTN1_ENST00000546090.1_Missense_Mutation_p.G377S|NTN1_ENST00000538852.1_Missense_Mutation_p.G377S	p.G377S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN			3	1236	+			377			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1129G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	35	5.506838	0.96386	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	D;D;D	0.90385	-2.66;-2.66;-2.66	4.89	4.89	0.63831	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99862	1.1084	10	0.87932	D	0	.	18.4101	0.90549	0.0:0.0:1.0:0.0	.	377	O95631	NET1_HUMAN	S	377	ENSP00000173229:G377S;ENSP00000443259:G377S;ENSP00000441611:G377S	ENSP00000173229:G377S	G	+	1	0	NTN1	9006965	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	7.478000	0.81082	2.437000	0.82529	0.650000	0.86243	GGC		0.647	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			5	18	0	0	0	1	0	5	18				
RGS11	8786	broad.mit.edu	37	16	321398	321398	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:321398G>A	ENST00000397770.3	-	11	766	c.749C>T	c.(748-750)gCg>gTg	p.A250V	RGS11_ENST00000359740.5_Splice_Site_p.A239V|RGS11_ENST00000316163.5_Splice_Site_p.A229V|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	250	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCCACTCACGCCTCAAGGCA	0.647																																						ENST00000397770.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.e11+1		regulator of G-protein signaling 11							53.0	52.0	53.0					16																	321398		2203	4300	6503	SO:0001630	splice_region_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321398G>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.749+1C>T	16.37:g.321398G>A						RGS11_ENST00000359740.5_Splice_Site_p.A239_splice|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Splice_Site_p.A229_splice	p.A250_splice			O94810	RGS11_HUMAN			11	766	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	250			G protein gamma.		O75883|Q4TT71|Q4TT72	Splice_Site	SNP	ENST00000397770.3	37	c.749_splice	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.017438	0.75161	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.22945	1.93;1.93;1.93	5.04	4.01	0.46588	G-protein gamma domain (4);	0.209202	0.40385	N	0.001120	T	0.43743	0.1261	M	0.81497	2.545	0.80722	D	1	D;D;D	0.63046	0.99;0.992;0.992	P;P;P	0.55345	0.664;0.774;0.774	T	0.45629	-0.9248	9	.	.	.	-19.0046	12.0628	0.53572	0.0:0.3504:0.6496:0.0	.	239;250;250	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	V	250;229;239	ENSP00000380876:A250V;ENSP00000319069:A229V;ENSP00000352778:A239V	.	A	-	2	0	RGS11	261399	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	2.586000	0.46119	2.337000	0.79520	0.455000	0.32223	GCG		0.647	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2		Missense_Mutation	24	37	0	0	0	1	0	24	37				
SEC14L5	9717	broad.mit.edu	37	16	5041923	5041923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:5041923C>T	ENST00000251170.7	+	6	739	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	187						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCCCCAGTCCGTGAGGAGGA	0.667																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(559-561)Cgt>Tgt		SEC14-like 5 (S. cerevisiae)							33.0	34.0	34.0					16																	5041923		2034	4171	6205	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5041923C>T	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.559C>T	16.37:g.5041923C>T	ENSP00000251170:p.Arg187Cys						p.R187C	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			6	739	+			187						Missense_Mutation	SNP	ENST00000251170.7	37	c.559C>T	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803590	0.16467	.	.	ENSG00000103184	ENST00000251170	T	0.70749	-0.51	4.3	-0.519	0.11939	.	0.757705	0.11517	N	0.556086	T	0.57213	0.2038	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.50145	-0.8862	10	0.54805	T	0.06	-16.18	3.7217	0.08459	0.2507:0.4367:0.0:0.3126	.	187	O43304	S14L5_HUMAN	C	187	ENSP00000251170:R187C	ENSP00000251170:R187C	R	+	1	0	SEC14L5	4981924	0.000000	0.05858	0.070000	0.20053	0.353000	0.29299	-0.599000	0.05700	0.102000	0.17638	0.650000	0.86243	CGT		0.667	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			9	8	0	0	0	1	0	9	8				
SORL1	6653	broad.mit.edu	37	11	121476199	121476199	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:121476199T>C	ENST00000260197.7	+	35	4996	c.4867T>C	c.(4867-4869)Tat>Cat	p.Y1623H	SORL1_ENST00000534286.1_Missense_Mutation_p.Y533H|SORL1_ENST00000527934.1_Missense_Mutation_p.Y238H|SORL1_ENST00000525532.1_Missense_Mutation_p.Y567H|SORL1_ENST00000532694.1_Missense_Mutation_p.Y469H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1623	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATACCACGTATCAGGTTAA	0.448																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(4867-4869)Tat>Cat		sortilin-related receptor, L(DLR class) A repeats containing							191.0	183.0	186.0					11																	121476199		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476199T>C	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4867T>C	11.37:g.121476199T>C	ENSP00000260197:p.Tyr1623His					SORL1_ENST00000534286.1_Missense_Mutation_p.Y533H|SORL1_ENST00000527934.1_Missense_Mutation_p.Y238H|SORL1_ENST00000525532.1_Missense_Mutation_p.Y567H|SORL1_ENST00000532694.1_Missense_Mutation_p.Y469H	p.Y1623H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4996	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1623			Fibronectin type-III 1.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4867T>C	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491638	0.84962	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	L	0.29908	0.895	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92424	0.5948	10	0.87932	D	0	.	15.636	0.76953	0.0:0.0:0.0:1.0	.	238;1623	E9PKB0;Q92673	.;SORL_HUMAN	H	1623;567;469;533;238	ENSP00000260197:Y1623H;ENSP00000434634:Y567H;ENSP00000432131:Y469H;ENSP00000436447:Y533H;ENSP00000435405:Y238H	ENSP00000260197:Y1623H	Y	+	1	0	SORL1	120981409	1.000000	0.71417	0.573000	0.28510	0.995000	0.86356	7.698000	0.84413	2.168000	0.68352	0.533000	0.62120	TAT		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		67	182	0	0	0	1	0	67	182				
DHX30	22907	broad.mit.edu	37	3	47882577	47882577	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:47882577G>A	ENST00000445061.1	+	7	984	c.577G>A	c.(577-579)Gag>Aag	p.E193K	DHX30_ENST00000457607.1_Missense_Mutation_p.E221K|DHX30_ENST00000446256.2_Missense_Mutation_p.E154K|DHX30_ENST00000348968.4_Missense_Mutation_p.E165K	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	193	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGGAGGACGAGGAGGAAGA	0.572																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(460-462)Gag>Aag		DEAH (Asp-Glu-Ala-His) box helicase 30							49.0	50.0	49.0					3																	47882577		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47882577G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.577G>A	3.37:g.47882577G>A	ENSP00000405620:p.Glu193Lys					DHX30_ENST00000457607.1_Missense_Mutation_p.E221K|DHX30_ENST00000445061.1_Missense_Mutation_p.E193K|DHX30_ENST00000348968.4_Missense_Mutation_p.E165K	p.E154K	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1032	+			193					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.460G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848893	0.71603	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03468	3.96;3.94;3.96;3.92	4.64	4.64	0.57946	.	0.350334	0.26457	N	0.024274	T	0.07143	0.0181	L	0.44542	1.39	0.48632	D	0.999684	D;D;D	0.65815	0.991;0.995;0.995	P;P;P	0.53490	0.537;0.727;0.727	T	0.47959	-0.9076	10	0.09590	T	0.72	.	14.37	0.66833	0.0:0.0:1.0:0.0	.	193;154;221	Q7L2E3;Q7L2E3-3;Q7L2E3-2	DHX30_HUMAN;.;.	K	154;193;165;221	ENSP00000392601:E154K;ENSP00000405620:E193K;ENSP00000343442:E165K;ENSP00000394682:E221K	ENSP00000343442:E165K	E	+	1	0	DHX30	47857581	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.670000	0.68088	2.386000	0.81285	0.655000	0.94253	GAG		0.572	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		11	40	0	0	0	1	0	11	40				
FAM13A	10144	broad.mit.edu	37	4	89912189	89912189	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89912189C>T	ENST00000264344.5	-	4	747	c.540G>A	c.(538-540)aaG>aaA	p.K180K	FAM13A_ENST00000515600.1_Silent_p.K180K|FAM13A_ENST00000509094.1_Silent_p.K180K|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	180	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCACATGATGCTTGGCTACTT	0.413																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(538-540)aaG>aaA		family with sequence similarity 13, member A							147.0	132.0	137.0					4																	89912189		2203	4300	6503	SO:0001819	synonymous_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89912189C>T	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.540G>A	4.37:g.89912189C>T						FAM13A_ENST00000509094.1_Silent_p.K180K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000515600.1_Silent_p.K180K|FAM13A_ENST00000502459.1_5'UTR	p.K180K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			4	747	-			180			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	c.540G>A	CCDS34029.1																																																																																				0.413	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			4	76	0	0	0	1	0	4	76				
SMOX	54498	broad.mit.edu	37	20	4163076	4163076	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:4163076G>A	ENST00000305958.4	+	5	1175	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.C317Y|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	317					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGTGGAGTGCGAGGACTGT	0.642																																						ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(949-951)tGc>tAc		spermine oxidase	Spermine(DB00127)						83.0	73.0	76.0					20																	4163076		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163076G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.950G>A	20.37:g.4163076G>A	ENSP00000307252:p.Cys317Tyr					SMOX_ENST00000379460.2_Missense_Mutation_p.C317Y|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron	p.C317Y	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			5	1175	+			317					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.950G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902843	0.52227	.	.	ENSG00000088826	ENST00000305958;ENST00000379460;ENST00000457205	D;D;D	0.92805	-3.11;-3.11;-3.11	5.79	3.8	0.43715	Amine oxidase (1);	0.129975	0.64402	D	0.000001	D	0.94188	0.8135	H	0.95504	3.68	0.58432	D	0.99999	P;B	0.34462	0.454;0.188	B;B	0.39419	0.299;0.17	D	0.92367	0.5902	9	.	.	.	-17.1893	8.8803	0.35370	0.0784:0.0:0.7726:0.1491	.	317;317	Q9NWM0-6;Q9NWM0	.;SMOX_HUMAN	Y	317;317;174	ENSP00000307252:C317Y;ENSP00000368773:C317Y;ENSP00000407269:C174Y	.	C	+	2	0	SMOX	4111076	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	7.906000	0.87423	0.762000	0.33152	0.558000	0.71614	TGC		0.642	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		16	50	0	0	0	1	0	16	50				
GPLD1	2822	broad.mit.edu	37	6	24473884	24473884	+	Silent	SNP	G	G	A	rs149870664		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:24473884G>A	ENST00000230036.1	-	6	563	c.453C>T	c.(451-453)caC>caT	p.H151H	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AATAGGAGCCGTGAAAATCAA	0.388																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.(451-453)caC>caT		glycosylphosphatidylinositol specific phospholipase D1		G	,	1,4405	2.1+/-5.4	0,1,2202	47.0	47.0	47.0		453,453	-4.4	0.0	6	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	GPLD1	NM_001503.2,NM_177483.1	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	151/841,151/177	24473884	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24473884G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.453C>T	6.37:g.24473884G>A						GPLD1_ENST00000474784.1_5'UTR	p.H151H	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			6	563	-			151					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	ENST00000230036.1	37	c.453C>T	CCDS4553.1																																																																																				0.388	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503		6	27	0	0	0	1	0	6	27				
VWA8	23078	broad.mit.edu	37	13	42273243	42273243	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:42273243A>G	ENST00000379310.3	-	29	3596	c.3528T>C	c.(3526-3528)agT>agC	p.S1176S	VWA8_ENST00000478987.1_5'Flank	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1176						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTTTGAGAGGACTTCCCAGCG	0.463																																						ENST00000379310.3																			0											c.(3526-3528)agT>agC		von Willebrand factor A domain containing 8							110.0	110.0	110.0					13																	42273243		1960	4149	6109	SO:0001819	synonymous_variant	23078							g.chr13:42273243A>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3528T>C	13.37:g.42273243A>G							p.S1176S	NM_015058.1	NP_055873.1					29	3596	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.3528T>C	CCDS41881.1																																																																																				0.463	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		5	124	0	0	0	1	0	5	124				
POGZ	23126	broad.mit.edu	37	1	151400737	151400737	+	Missense_Mutation	SNP	C	C	T	rs552308484		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151400737C>T	ENST00000271715.2	-	6	1035	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	POGZ_ENST00000392723.1_Missense_Mutation_p.V188I|POGZ_ENST00000531094.1_Missense_Mutation_p.V188I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Missense_Mutation_p.V146I|POGZ_ENST00000409503.1_Missense_Mutation_p.V241I|POGZ_ENST00000361398.3_Missense_Mutation_p.V188I|POGZ_ENST00000491586.1_Missense_Mutation_p.V188I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	241					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTGTGGGACGGTGCTTCGA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19954	0.0		0.0	False		,,,				2504	0.0					ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(721-723)Gtc>Atc		pogo transposable element with ZNF domain							311.0	291.0	298.0					1																	151400737		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151400737C>T	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.721G>A	1.37:g.151400737C>T	ENSP00000271715:p.Val241Ile					POGZ_ENST00000361398.3_Missense_Mutation_p.V188I|POGZ_ENST00000531094.1_Missense_Mutation_p.V188I|POGZ_ENST00000491586.1_Missense_Mutation_p.V188I|POGZ_ENST00000409503.1_Missense_Mutation_p.V241I|POGZ_ENST00000392723.1_Missense_Mutation_p.V188I|POGZ_ENST00000368863.2_Missense_Mutation_p.V146I|POGZ_ENST00000540984.1_Intron	p.V241I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	1035	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		241					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.721G>A	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374411	0.82573	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000007	T	0.81754	0.4889	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.994;0.968;0.996;0.992;0.992;0.981;0.994	P;P;P;D;D;D;P	0.67548	0.651;0.854;0.738;0.952;0.952;0.931;0.651	T	0.82074	-0.0637	10	0.33141	T	0.24	-15.6265	17.3931	0.87437	0.0:1.0:0.0:0.0	.	188;241;146;241;188;188;241	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	I	188;241;188;146;241;188;188;241	ENSP00000376484:V188I;ENSP00000271715:V241I;ENSP00000354467:V188I;ENSP00000357856:V146I;ENSP00000386836:V241I;ENSP00000431259:V188I;ENSP00000418408:V188I	ENSP00000271715:V241I	V	-	1	0	POGZ	149667361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.142000	0.64820	2.679000	0.91253	0.563000	0.77884	GTC		0.602	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		12	169	0	0	0	1	0	12	169				
QPRT	23475	broad.mit.edu	37	16	29708606	29708606	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29708606C>T	ENST00000395384.4	+	4	929	c.768C>T	c.(766-768)ctC>ctT	p.L256L	QPRT_ENST00000562473.1_Silent_p.L108L|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	256					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGGACAACCTCCCCCAGTTCT	0.637																																						ENST00000395384.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.(766-768)ctC>ctT		quinolinate phosphoribosyltransferase	Niacin(DB00627)						41.0	43.0	43.0					16																	29708606		2197	4300	6497	SO:0001819	synonymous_variant	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29708606C>T	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.768C>T	16.37:g.29708606C>T						QPRT_ENST00000562473.1_Silent_p.L108L|QPRT_ENST00000219771.7_3'UTR	p.L256L	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN			4	929	+			256					Q53XW7|Q96G22|Q9BSG6	Silent	SNP	ENST00000395384.4	37	c.768C>T	CCDS10651.1																																																																																				0.637	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2	NM_014298		11	38	0	0	0	1	0	11	38				
PLXDC1	57125	broad.mit.edu	37	17	37234284	37234284	+	Silent	SNP	G	G	A	rs138219673		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37234284G>A	ENST00000315392.4	-	11	1279	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000444911.2_Silent_p.C316C	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	356					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAAGTCCTCGCACATCCTGC	0.542																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1066-1068)tgC>tgT		plexin domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	168.0	110.0	129.0		1068	0.9	1.0	17	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	PLXDC1	NM_020405.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		356/501	37234284	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37234284G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1068C>T	17.37:g.37234284G>A						PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.C316C|CTD-2206N4.4_ENST00000583447.1_RNA	p.C356C	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			11	1279	-			356					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.1068C>T	CCDS11333.1																																																																																				0.542	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		19	43	0	0	0	1	0	19	43				
SELENBP1	8991	broad.mit.edu	37	1	151340694	151340694	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151340694G>A	ENST00000368868.5	-	5	553	c.462C>T	c.(460-462)gaC>gaT	p.D154D	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000426705.2_Silent_p.D196D|SELENBP1_ENST00000435071.1_Silent_p.D90D|SELENBP1_ENST00000447402.3_Silent_p.D92D	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	154					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCCTTGACGTCTCCCAGGG	0.542																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(586-588)gaC>gaT		selenium binding protein 1							176.0	163.0	167.0					1																	151340694		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151340694G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.462C>T	1.37:g.151340694G>A						SELENBP1_ENST00000435071.1_Silent_p.D90D|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Silent_p.D154D|SELENBP1_ENST00000447402.3_Silent_p.D92D	p.D196D	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	732	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		154					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.588C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.671972	0.14776	.	.	ENSG00000143416	ENST00000424475	.	.	.	5.93	1.0	0.19881	.	.	.	.	.	T	0.44561	0.1299	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38845	-0.9642	4	.	.	.	-6.3721	10.1185	0.42605	0.4045:0.0:0.5955:0.0	.	.	.	.	M	115	.	.	T	-	2	0	SELENBP1	149607318	1.000000	0.71417	0.950000	0.38849	0.827000	0.46813	0.910000	0.28571	0.281000	0.22233	0.561000	0.74099	ACG		0.542	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			74	188	0	0	0	1	0	74	188				
PAPPA	5069	broad.mit.edu	37	9	119158888	119158888	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119158888A>G	ENST00000328252.3	+	22	5246	c.4877A>G	c.(4876-4878)cAt>cGt	p.H1626R	PAPPA_ENST00000534838.1_Missense_Mutation_p.H664R|AL137024.1_ENST00000401363.1_RNA|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1626					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGATACAGCCATGGCTAAGGA	0.537																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4876-4878)cAt>cGt		pregnancy-associated plasma protein A, pappalysin 1							111.0	107.0	108.0					9																	119158888		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119158888A>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4877A>G	9.37:g.119158888A>G	ENSP00000330658:p.His1626Arg					PAPPA_ENST00000534838.1_Missense_Mutation_p.H664R|PAPPA_ENST00000483254.1_3'UTR	p.H1626R	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			22	5246	+			1626					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4877A>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	6.226	0.409842	0.11812	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.03580	4.66;3.88	5.71	5.71	0.89125	.	0.164767	0.53938	D	0.000049	T	0.02047	0.0064	N	0.08118	0	0.30008	N	0.815429	B;B	0.33583	0.418;0.294	B;B	0.25140	0.058;0.038	T	0.38373	-0.9664	10	0.34782	T	0.22	-15.5764	9.4409	0.38668	0.8011:0.0:0.0:0.1989	.	664;1626	F5GZ19;Q13219	.;PAPP1_HUMAN	R	1626;664	ENSP00000330658:H1626R;ENSP00000441461:H664R	ENSP00000330658:H1626R	H	+	2	0	PAPPA	118198709	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.390000	0.44416	2.189000	0.69895	0.402000	0.26972	CAT		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	116	0	0	0	1	0	4	116				
ASIC1	41	broad.mit.edu	37	12	50472316	50472316	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:50472316G>A	ENST00000447966.2	+	6	1179	c.950G>A	c.(949-951)cGc>cAc	p.R317H	ASIC1_ENST00000552438.1_Missense_Mutation_p.R351H|ASIC1_ENST00000228468.4_Missense_Mutation_p.R317H	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	317					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TGTGAGACGCGCTACCTGGTG	0.612																																						ENST00000228468.4																			0											c.(949-951)cGc>cAc		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						155.0	154.0	154.0					12																	50472316		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472316G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.950G>A	12.37:g.50472316G>A	ENSP00000400228:p.Arg317His					ASIC1_ENST00000447966.2_Missense_Mutation_p.R317H|ASIC1_ENST00000552438.1_Missense_Mutation_p.R351H	p.R317H	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			6	1335	+			317					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.950G>A	CCDS44876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.265994|5.265994	0.95399|0.95399	.|.	.|.	ENSG00000110881|ENSG00000110881	ENST00000453327|ENST00000228468;ENST00000447966;ENST00000552438	.|T;T;T	.|0.66638	.|-0.22;-0.22;-0.22	4.35|4.35	4.35|4.35	0.52113|0.52113	.|Na+ channel, amiloride-sensitive, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84170|0.84170	0.5413|0.5413	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	.|D;P	.|0.57899	.|0.981;0.932	.|P;P	.|0.62491	.|0.903;0.795	D|D	0.88600|0.88600	0.3149|0.3149	5|10	.|0.87932	.|D	.|0	-28.2925|-28.2925	17.4533|17.4533	0.87599|0.87599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;317	.|P78348;P78348-1	.|ACCN2_HUMAN;.	T|H	185|317;317;351	.|ENSP00000228468:R317H;ENSP00000400228:R317H;ENSP00000450247:R351H	.|ENSP00000228468:R317H	A|R	+|+	1|2	0|0	ACCN2|ACCN2	48758583|48758583	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.977000|0.977000	0.68977|0.68977	6.547000|6.547000	0.73892|0.73892	2.414000|2.414000	0.81942|0.81942	0.462000|0.462000	0.41574|0.41574	GCT|CGC		0.612	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		37	150	0	0	0	1	0	37	150				
SLC16A13	201232	broad.mit.edu	37	17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:6941923C>T	ENST00000308027.6	+	3	1104	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	266						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTCGTGGGGCGTGTGGTCTC	0.602																																						ENST00000308027.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(796-798)Cgt>Tgt		solute carrier family 16, member 13							113.0	103.0	106.0					17																	6941923		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941923C>T	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.796C>T	17.37:g.6941923C>T	ENSP00000309751:p.Arg266Cys						p.R266C	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	1104	+			266					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.796C>T	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780339	0.90195	.	.	ENSG00000174327	ENST00000308027	T	0.60299	0.2	5.59	5.59	0.84812	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85347	0.1099	10	0.87932	D	0	.	17.0863	0.86611	0.0:1.0:0.0:0.0	.	266	Q7RTY0	MOT13_HUMAN	C	266	ENSP00000309751:R266C	ENSP00000309751:R266C	R	+	1	0	SLC16A13	6882647	0.997000	0.39634	1.000000	0.80357	0.972000	0.66771	3.476000	0.53143	2.627000	0.88993	0.557000	0.71058	CGT		0.602	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			6	107	0	0	0	1	0	6	107				
COL11A2	1302	broad.mit.edu	37	6	33137176	33137176	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33137176C>T	ENST00000374708.4	-	49	3782	c.3524G>A	c.(3523-3525)gGc>gAc	p.G1175D	COL11A2_ENST00000374714.1_Missense_Mutation_p.G1235D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1240D|COL11A2_ENST00000341947.2_Missense_Mutation_p.G1261D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1201D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1214D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1154D|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1180D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1261	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTTGGGGCCATCATCGCC	0.627																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3781-3783)gGc>gAc		collagen, type XI, alpha 2							44.0	40.0	41.0					6																	33137176		1510	2707	4217	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137176C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3524G>A	6.37:g.33137176C>T	ENSP00000363840:p.Gly1175Asp					COL11A2_ENST00000374714.1_Missense_Mutation_p.G1235D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1201D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1180D|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1154D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1214D|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1175D|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1240D	p.G1261D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			51	4009	-			1261			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3782G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.314910	0.60524	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.99176	-5.52;-4.61;-4.61;-4.61;-5.52;-5.52;-5.52;-5.52	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98096	1.0412	10	0.87932	D	0	.	15.5774	0.76404	0.0:1.0:0.0:0.0	.	1154;1175;1261	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	D	1175;1261;1240;1235;1214;1201;1180;1154	ENSP00000363840:G1175D;ENSP00000339915:G1261D;ENSP00000350079:G1240D;ENSP00000363846:G1235D;ENSP00000363845:G1214D;ENSP00000378623:G1201D;ENSP00000363844:G1180D;ENSP00000355123:G1154D	ENSP00000339915:G1261D	G	-	2	0	COL11A2	33245154	1.000000	0.71417	0.995000	0.50966	0.728000	0.41692	7.188000	0.77739	2.561000	0.86390	0.549000	0.68633	GGC		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			9	44	0	0	0	1	0	9	44				
FAM102B	284611	broad.mit.edu	37	1	109177768	109177768	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109177768G>A	ENST00000370035.3	+	11	1419	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FAM102B_ENST00000405454.1_Intron	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	360										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTGATCAAACGCTAGAAGTCA	0.373																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(1078-1080)cGc>cAc		family with sequence similarity 102, member B							172.0	168.0	169.0					1																	109177768		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109177768G>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.1079G>A	1.37:g.109177768G>A	ENSP00000359052:p.Arg360His					FAM102B_ENST00000405454.1_Intron	p.R360H	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	11	1419	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	360					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.1079G>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047519	0.75846	.	.	ENSG00000162636	ENST00000370035	.	.	.	5.97	5.97	0.96955	.	0.100050	0.64402	D	0.000001	T	0.33990	0.0882	N	0.19112	0.55	0.80722	D	1	B	0.28850	0.225	B	0.20184	0.028	T	0.30297	-0.9983	9	0.72032	D	0.01	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	360	Q5T8I3	F102B_HUMAN	H	360	.	ENSP00000359052:R360H	R	+	2	0	FAM102B	108979291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.970000	0.70431	2.835000	0.97688	0.591000	0.81541	CGC		0.373	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		26	63	0	0	0	1	0	26	63				
SYNE3	161176	broad.mit.edu	37	14	95903246	95903246	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95903246A>G	ENST00000334258.5	-	14	2463	c.2449T>C	c.(2449-2451)Ttg>Ctg	p.L817L	SYNE3_ENST00000554873.1_Silent_p.L574L|SYNE3_ENST00000557275.1_Silent_p.L812L	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	817					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TCCACCTGCAACCACTGCCCA	0.502																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(2449-2451)Ttg>Ctg		spectrin repeat containing, nuclear envelope family member 3							124.0	114.0	117.0					14																	95903246		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95903246A>G	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2449T>C	14.37:g.95903246A>G						SYNE3_ENST00000557275.1_Silent_p.L812L|SYNE3_ENST00000554873.1_Silent_p.L574L	p.L817L	NM_152592.3	NP_689805.3					14	2463	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.2449T>C	CCDS9935.1																																																																																				0.502	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		5	112	0	0	0	1	0	5	112				
RNF216	54476	broad.mit.edu	37	7	5662502	5662502	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:5662502G>A	ENST00000425013.2	-	17	2814	c.2590C>T	c.(2590-2592)Cat>Tat	p.H864Y	RNF216_ENST00000389902.3_Missense_Mutation_p.H921Y|RNF216_ENST00000469375.1_5'Flank	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	864					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGAAGCGATGCCGCGGCTGG	0.622																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2590-2592)Cat>Tat		ring finger protein 216							92.0	106.0	101.0					7																	5662502		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662502G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2590C>T	7.37:g.5662502G>A	ENSP00000404602:p.His864Tyr					RNF216_ENST00000389902.3_Missense_Mutation_p.H921Y	p.H864Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2814	-		Ovarian(82;0.07)	864					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2590C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684214	0.68157	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.52754	0.66;0.65	4.89	4.89	0.63831	.	0.115346	0.64402	D	0.000020	T	0.63058	0.2479	L	0.47716	1.5	0.43750	D	0.996258	D;D	0.71674	0.996;0.998	D;D	0.80764	0.937;0.994	T	0.66333	-0.5950	10	0.87932	D	0	-9.2253	16.9527	0.86250	0.0:0.0:1.0:0.0	.	864;921	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Y	864;921;676	ENSP00000404602:H864Y;ENSP00000374552:H921Y	ENSP00000374552:H921Y	H	-	1	0	RNF216	5629028	1.000000	0.71417	0.997000	0.53966	0.657000	0.38888	6.988000	0.76212	2.411000	0.81874	0.561000	0.74099	CAT		0.622	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		10	243	0	0	0	1	0	10	243				
NSD1	64324	broad.mit.edu	37	5	176638166	176638166	+	Silent	SNP	G	G	A	rs369705297		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176638166G>A	ENST00000439151.2	+	5	2811	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	NSD1_ENST00000354179.4_Silent_p.T653T|NSD1_ENST00000361032.4_Silent_p.T819T|NSD1_ENST00000347982.4_Silent_p.T653T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATAGTAAGACGAAGGAGCAGC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2764-2766)acG>acA		nuclear receptor binding SET domain protein 1		G	,	0,4406		0,0,2203	99.0	93.0	95.0		2766,1959	-4.7	0.9	5		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NSD1	NM_022455.4,NM_172349.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	922/2697,653/2428	176638166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638166G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2766G>A	5.37:g.176638166G>A		HNSCC(47;0.14)				NSD1_ENST00000347982.4_Silent_p.T653T|NSD1_ENST00000361032.4_Silent_p.T819T|NSD1_ENST00000354179.4_Silent_p.T653T	p.T922T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2811	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	922					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.2766G>A	CCDS4412.1																																																																																				0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	59	0	0	0	1	0	10	59				
TMEM86B	255043	broad.mit.edu	37	19	55738740	55738740	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55738740G>A	ENST00000327042.4	-	3	1012	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	AC010327.2_ENST00000598855.1_Silent_p.A34A	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	164					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCCAGGCCGCGCCACAGCATG	0.706																																						ENST00000327042.4																			0				skin(2)	2						c.(490-492)Cgc>Tgc		transmembrane protein 86B							14.0	15.0	15.0					19																	55738740		2187	4290	6477	SO:0001583	missense	255043				ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity	g.chr19:55738740G>A	BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.490C>T	19.37:g.55738740G>A	ENSP00000321038:p.Arg164Cys					AC010327.2_ENST00000598855.1_Silent_p.A34A	p.R164C	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	3	1012	-			164						Missense_Mutation	SNP	ENST00000327042.4	37	c.490C>T	CCDS12920.1	.	.	.	.	.	.	.	.	.	.	.	15.09	2.729146	0.48833	.	.	ENSG00000180089	ENST00000327042	T	0.23754	1.89	4.79	3.75	0.43078	.	0.091630	0.43260	D	0.000584	T	0.50205	0.1602	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52343	-0.8588	10	0.66056	D	0.02	.	7.4699	0.27342	0.0872:0.0:0.7481:0.1646	.	164	Q8N661	TM86B_HUMAN	C	164	ENSP00000321038:R164C	ENSP00000321038:R164C	R	-	1	0	TMEM86B	60430552	1.000000	0.71417	0.989000	0.46669	0.130000	0.20726	1.675000	0.37555	1.164000	0.42652	-0.136000	0.14681	CGC		0.706	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452659.1	NM_173804		7	16	0	0	0	1	0	7	16				
RPS6KA5	9252	broad.mit.edu	37	14	91444844	91444844	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91444844C>T	ENST00000261991.3	-	3	373	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R67H|RPS6KA5_ENST00000536315.2_5'UTR	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	67	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ACTTATTTTACGAACTAGAAA	0.323																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(199-201)cGt>cAt		ribosomal protein S6 kinase, 90kDa, polypeptide 5							116.0	98.0	104.0					14																	91444844		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91444844C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.200G>A	14.37:g.91444844C>T	ENSP00000261991:p.Arg67His					RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R67H|RPS6KA5_ENST00000536315.2_5'UTR	p.R67H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	3	373	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	67			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.200G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950511	0.92660	.	.	ENSG00000100784	ENST00000261991;ENST00000418736	T;T	0.26810	1.71;1.71	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);	0.000000	0.85682	D	0.000000	T	0.54271	0.1848	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.53422	-0.8441	10	0.87932	D	0	.	20.2527	0.98410	0.0:1.0:0.0:0.0	.	67;67	O75582-2;O75582	.;KS6A5_HUMAN	H	67	ENSP00000261991:R67H;ENSP00000402787:R67H	ENSP00000261991:R67H	R	-	2	0	RPS6KA5	90514597	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.487000	0.81328	2.788000	0.95919	0.557000	0.71058	CGT		0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		15	29	0	0	0	1	0	15	29				
CACNA1A	773	broad.mit.edu	37	19	13409842	13409842	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13409842G>A	ENST00000360228.5	-	19	2604	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R870W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	870					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGGGTCCCGGGCCCGATCG	0.751																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2605-2607)Cgg>Tgg		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409842G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2605C>T	19.37:g.13409842G>A	ENSP00000353362:p.Arg869Trp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R870W	p.R869W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2604	-			870					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2605C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407681	0.11754	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96011	-3.88	3.37	1.12	0.20585	.	1.266470	0.05519	N	0.561821	D	0.94951	0.8367	N	0.22421	0.69	0.09310	N	1	B;D;D	0.89917	0.006;0.998;1.0	B;P;D	0.74023	0.001;0.857;0.982	D	0.86811	0.1998	10	0.87932	D	0	.	5.9446	0.19211	0.1135:0.3778:0.5086:0.0	.	870;873;869	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	W	869;873;870;870	ENSP00000353362:R869W	ENSP00000317661:R870W	R	-	1	2	CACNA1A	13270842	0.965000	0.33210	0.218000	0.23776	0.005000	0.04900	3.737000	0.55060	0.384000	0.24942	-0.693000	0.03709	CGG		0.751	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	25	0	0	0	1	0	3	25				
FRAS1	80144	broad.mit.edu	37	4	79396694	79396694	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:79396694C>T	ENST00000264895.6	+	54	8225	c.7785C>T	c.(7783-7785)acC>acT	p.T2595T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2595	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCAAGGCACCGCCAGCTCCA	0.597																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7783-7785)acC>acT		Fraser syndrome 1							97.0	107.0	104.0					4																	79396694		2096	4222	6318	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79396694C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7785C>T	4.37:g.79396694C>T							p.T2595T	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			54	8225	+			2594			Calx-beta 1.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.7785C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	0.638	-0.814424	0.02798	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.44	-10.9	0.00192	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48570	-0.9024	4	.	.	.	.	3.4707	0.07566	0.1803:0.0868:0.1547:0.5782	.	.	.	.	C	824	.	.	R	+	1	0	FRAS1	79615718	0.000000	0.05858	0.131000	0.22000	0.217000	0.24651	-6.447000	0.00065	-3.415000	0.00168	-0.971000	0.02607	CGC		0.597	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				23	67	0	0	0	1	0	23	67				
LRP4	4038	broad.mit.edu	37	11	46921856	46921856	+	Silent	SNP	G	G	A	rs150401820		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:46921856G>A	ENST00000378623.1	-	3	515	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	91	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTGTCCCCGTCACACACCC	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20553	0.0		0.0	False		,,,				2504	0.0					ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(271-273)gaC>gaT		low density lipoprotein receptor-related protein 4		G		2,4400	4.2+/-10.8	0,2,2199	126.0	111.0	116.0		273	-10.9	0.3	11	dbSNP_134	116	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	LRP4	NM_002334.3		0,3,6497	AA,AG,GG		0.0116,0.0454,0.0231		91/1906	46921856	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46921856G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.273C>T	11.37:g.46921856G>A							p.D91D	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	3	515	-			91			LDL-receptor class A 2.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.273C>T	CCDS31478.1																																																																																				0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		23	73	0	0	0	1	0	23	73				
UGT2B28	54490	broad.mit.edu	37	4	70146235	70146235	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70146235C>T	ENST00000335568.5	+	1	19	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T6I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	6					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAAGTGGACTTCAGTTCTT	0.403																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(16-18)aCt>aTt		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						155.0	172.0	167.0					4																	70146235		2047	4237	6284	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70146235C>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.17C>T	4.37:g.70146235C>T	ENSP00000334276:p.Thr6Ile					UGT2B28_ENST00000511240.1_Missense_Mutation_p.T6I	p.T6I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			1	19	+			6					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.17C>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0	-2.728658	0.00091	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.59502	0.26;1.19	2.18	-4.36	0.03645	.	1.161080	0.06751	N	0.779990	T	0.29749	0.0743	N	0.11313	0.125	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.25614	0.062;0.001	T	0.19679	-1.0298	10	0.10111	T	0.7	.	3.4162	0.07376	0.2849:0.255:0.0:0.46	.	6;6	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	I	6	ENSP00000334276:T6I;ENSP00000427399:T6I	ENSP00000334276:T6I	T	+	2	0	UGT2B28	70180824	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.125000	0.10579	-1.546000	0.01717	0.184000	0.17185	ACT		0.403	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		53	155	0	0	0	1	0	53	155				
IL16	3603	broad.mit.edu	37	15	81517754	81517754	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:81517754G>T	ENST00000302987.4	+	1	14	c.14G>T	c.(13-15)aGc>aTc	p.S5I	IL16_ENST00000394660.2_Missense_Mutation_p.S5I			Q14005	IL16_HUMAN	interleukin 16	5					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGTCGCACAGCCGCGCTGGA	0.542																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(13-15)aGc>aTc		interleukin 16							49.0	51.0	50.0					15																	81517754		2057	4209	6266	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81517754G>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.14G>T	15.37:g.81517754G>T	ENSP00000302935:p.Ser5Ile					IL16_ENST00000302987.4_Missense_Mutation_p.S5I	p.S5I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			2	374	+			5					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.14G>T	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410903	0.25465	.	.	ENSG00000172349	ENST00000394655;ENST00000360547;ENST00000394660;ENST00000302987	T;T	0.20881	2.05;2.04	4.18	4.18	0.49190	.	0.315407	0.22784	N	0.055684	T	0.32041	0.0816	M	0.65975	2.015	0.80722	D	1	P;D	0.54964	0.948;0.969	P;P	0.53809	0.548;0.735	T	0.06917	-1.0800	10	0.72032	D	0.01	.	7.4014	0.26967	0.2448:0.0:0.7552:0.0	.	5;5	Q14005;Q14005-2	IL16_HUMAN;.	I	5;47;5;5	ENSP00000378155:S5I;ENSP00000302935:S5I	ENSP00000302935:S5I	S	+	2	0	IL16	79304809	0.788000	0.28762	0.361000	0.25849	0.070000	0.16714	1.634000	0.37123	2.155000	0.67459	0.563000	0.77884	AGC		0.542	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	33	1	0	0.0381472	1	0.0383956	7	33				
PCDH19	57526	broad.mit.edu	37	X	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4. {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)	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607																																						ENST00000373034.4																			1	Substitution - Nonsense(1)	p.R395*(1)	prostate(1)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1183-1185)Cga>Tga		protocadherin 19							83.0	82.0	83.0					X																	99662413		2172	4239	6411	SO:0001587	stop_gained	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662413G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1183C>T	X.37:g.99662413G>A	ENSP00000362125:p.Arg395*					PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2858	-			395			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Nonsense_Mutation	SNP	ENST00000373034.4	37	c.1183C>T	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	37	6.311619	0.97462	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	.	.	.	5.95	0.891	0.19224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	16.8526	0.85998	0.0:0.0:0.3244:0.6756	.	.	.	.	X	395	.	ENSP00000255531:R395X	R	-	1	2	PCDH19	99549069	1.000000	0.71417	0.977000	0.42913	0.960000	0.62799	1.373000	0.34272	-0.273000	0.09246	-0.371000	0.07208	CGA		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		39	48	0	0	0	1	0	39	48				
KCND3	3752	broad.mit.edu	37	1	112318870	112318870	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:112318870G>A	ENST00000315987.2	-	8	2276	c.1797C>T	c.(1795-1797)gaC>gaT	p.D599D	KCND3_ENST00000302127.4_Silent_p.D580D|KCND3_ENST00000369697.1_Silent_p.D580D	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	599					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTCTCAGTCCGTCGTCTGCTT	0.557																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(1738-1740)gaC>gaT		potassium voltage-gated channel, Shal-related subfamily, member 3							121.0	106.0	111.0					1																	112318870		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112318870G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1797C>T	1.37:g.112318870G>A						KCND3_ENST00000315987.2_Silent_p.D599D|KCND3_ENST00000302127.4_Silent_p.D580D	p.D580D			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	6	1809	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	599					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.1740C>T	CCDS843.1																																																																																				0.557	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		14	36	0	0	0	1	0	14	36				
KDM6B	23135	broad.mit.edu	37	17	7756414	7756414	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7756414C>T	ENST00000448097.2	+	21	5038	c.4707C>T	c.(4705-4707)gaC>gaT	p.D1569D	TMEM88_ENST00000574668.1_5'Flank|TMEM88_ENST00000301599.6_5'Flank|KDM6B_ENST00000254846.5_Silent_p.D1569D			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1569					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTGTCAAGGACGAGCCAGCCT	0.627																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(4705-4707)gaC>gaT		lysine (K)-specific demethylase 6B							135.0	113.0	121.0					17																	7756414		2203	4300	6503	SO:0001819	synonymous_variant	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7756414C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.4707C>T	17.37:g.7756414C>T						KDM6B_ENST00000448097.2_Silent_p.D1569D	p.D1569D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			21	5096	+			1569					C9IZ40|Q96G33	Silent	SNP	ENST00000448097.2	37	c.4707C>T																																																																																					0.627	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	37	0	0	0	1	0	7	37				
ARHGEF2	9181	broad.mit.edu	37	1	155920810	155920810	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155920810C>T	ENST00000361247.4	-	20	2612	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R810Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R837Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R810Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R839Q|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R883Q	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	838					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCGGAGCCGGGCCTCCAG	0.697																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(2428-2430)cGg>cAg		Rho/Rac guanine nucleotide exchange factor (GEF) 2							9.0	10.0	10.0					1																	155920810		2183	4245	6428	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155920810C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2513G>A	1.37:g.155920810C>T	ENSP00000354837:p.Arg838Gln					ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R837Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R839Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R838Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R810Q	p.R810Q			Q92974	ARHG2_HUMAN			24	2899	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		838					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.2429G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958855	0.92726	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	5.12	5.12	0.69794	.	0.000000	0.44483	D	0.000442	T	0.27731	0.0682	N	0.19112	0.55	0.33147	D	0.545185	D;D;D;D	0.71674	0.997;0.997;0.998;0.997	D;D;D;D	0.72982	0.968;0.953;0.979;0.953	T	0.04495	-1.0947	10	0.29301	T	0.29	-32.3256	16.0862	0.81056	0.0:1.0:0.0:0.0	.	882;838;837;839	D3DVA5;Q92974;Q92974-2;Q5VY93	.;ARHG2_HUMAN;.;.	Q	810;838;839;810;837	ENSP00000315325:R810Q;ENSP00000354837:R838Q;ENSP00000357298:R839Q;ENSP00000357299:R810Q;ENSP00000314787:R837Q	ENSP00000314787:R837Q	R	-	2	0	ARHGEF2	154187434	0.982000	0.34865	1.000000	0.80357	0.995000	0.86356	2.839000	0.48207	2.660000	0.90430	0.655000	0.94253	CGG		0.697	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		15	25	0	0	0	1	0	15	25				
SERPINF1	5176	broad.mit.edu	37	17	1673175	1673175	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1673175G>A	ENST00000254722.4	+	3	277	c.114G>A	c.(112-114)gcG>gcA	p.A38A	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	38					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCACAGGGGCGCTGGTGGAGG	0.602																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(112-114)gcG>gcA		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							85.0	88.0	87.0					17																	1673175		2203	4300	6503	SO:0001819	synonymous_variant	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1673175G>A	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.114G>A	17.37:g.1673175G>A						SERPINF1_ENST00000571870.1_3'UTR	p.A38A	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			3	277	+			38					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Silent	SNP	ENST00000254722.4	37	c.114G>A	CCDS11012.1																																																																																				0.602	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		42	118	0	0	0	1	0	42	118				
FSCB	84075	broad.mit.edu	37	14	44974420	44974420	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:44974420C>T	ENST00000340446.4	-	1	2062	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	591	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAATTGCAGCAGAGGCCTCT	0.547																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1771-1773)Gct>Act		fibrous sheath CABYR binding protein							24.0	26.0	26.0					14																	44974420		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974420C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1771G>A	14.37:g.44974420C>T	ENSP00000344579:p.Ala591Thr						p.A591T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2062	-			591			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1771G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.355204	0.41700	.	.	ENSG00000189139	ENST00000340446	T	0.13089	2.62	5.33	-0.683	0.11335	.	.	.	.	.	T	0.07234	0.0183	L	0.29908	0.895	0.09310	N	1	B	0.25169	0.119	B	0.17722	0.019	T	0.42413	-0.9453	9	0.14252	T	0.57	-0.9476	3.8478	0.08942	0.2723:0.4463:0.0:0.2813	.	591	Q5H9T9	FSCB_HUMAN	T	591	ENSP00000344579:A591T	ENSP00000344579:A591T	A	-	1	0	FSCB	44044170	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.457000	0.06745	-0.033000	0.13736	0.650000	0.86243	GCT		0.547	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		17	38	0	0	0	1	0	17	38				
CCDC129	223075	broad.mit.edu	37	7	31683138	31683138	+	Silent	SNP	G	G	A	rs185363516	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:31683138G>A	ENST00000407970.3	+	11	2192	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	CCDC129_ENST00000451887.2_Silent_p.S744S|CCDC129_ENST00000319386.3_Silent_p.S570S|CCDC129_ENST00000409210.1_Silent_p.S626S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	718										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGGTGTCGGCTGCTCAGA	0.527													G|||	9	0.00179712	0.0	0.0	5008	,	,		20280	0.0079		0.001	False		,,,				2504	0.0					ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1708-1710)tcG>tcA		coiled-coil domain containing 129							71.0	75.0	74.0					7																	31683138		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31683138G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2154G>A	7.37:g.31683138G>A						CCDC129_ENST00000409210.1_Silent_p.S626S|CCDC129_ENST00000451887.2_Silent_p.S744S|CCDC129_ENST00000407970.3_Silent_p.S718S	p.S570S			Q6ZRS4	CC129_HUMAN			11	2703	+			718					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1710G>A	CCDS5435.2																																																																																				0.527	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	64	0	0	0	1	0	25	64				
CDHR2	54825	broad.mit.edu	37	5	176011599	176011599	+	Missense_Mutation	SNP	G	G	A	rs114267729	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176011599G>A	ENST00000510636.1	+	19	2591	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I	CDHR2_ENST00000261944.5_Missense_Mutation_p.V773I|CDHR2_ENST00000506348.1_Missense_Mutation_p.V773I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACACAGCCCGTCTTCAACTT	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		19728	0.0		0.001	False		,,,				2504	0.001					ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2317-2319)Gtc>Atc		cadherin-related family member 2		G	ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	64.0	67.0	66.0		2317,2317	-9.3	0.0	5	dbSNP_132	66	0,8600		0,0,4300	yes	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	773/1311,773/1311	176011599	3,13003	2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011599G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2317G>A	5.37:g.176011599G>A	ENSP00000424565:p.Val773Ile					CDHR2_ENST00000261944.5_Missense_Mutation_p.V773I|CDHR2_ENST00000506348.1_Missense_Mutation_p.V773I	p.V773I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2591	+			773			Cadherin 7.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2317G>A	CCDS34297.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.767	-0.256571	0.05829	6.81E-4	0.0	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.50548	0.74;0.74;0.74	5.12	-9.28	0.00656	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18045	0.0433	N	0.16790	0.44	0.09310	N	1	B	0.33345	0.409	B	0.30782	0.12	T	0.19811	-1.0294	9	0.17832	T	0.49	-0.0978	0.7264	0.00949	0.2951:0.1268:0.268:0.3102	.	773	Q9BYE9	CDHR2_HUMAN	I	773	ENSP00000424565:V773I;ENSP00000261944:V773I;ENSP00000421078:V773I	ENSP00000261944:V773I	V	+	1	0	CDHR2	175944205	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.860000	0.04272	-1.055000	0.03209	-0.425000	0.05940	GTC		0.597	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		44	95	0	0	0	1	0	44	95				
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:101456141G>A	ENST00000370109.3	-	8	793	c.681C>T	c.(679-681)gcC>gcT	p.A227A	AC093157.1_ENST00000593496.1_Silent_p.S45S|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000427040.2_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448																																						ENST00000593496.1																			0											c.(133-135)tcG>tcA									93.0	91.0	92.0					1																	101456141		1972	4145	6117	SO:0001819	synonymous_variant	0							g.chr1:101456141G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.681C>T	1.37:g.101456141G>A						DPH5_ENST00000342173.7_Silent_p.A226A|DPH5_ENST00000370109.3_Silent_p.A227A|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.A227A|DPH5_ENST00000427040.2_5'UTR	p.S45S							1	381	+								A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.135G>A	CCDS41358.1																																																																																				0.448	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		23	51	0	0	0	1	0	23	51				
NOL8	55035	broad.mit.edu	37	9	95078067	95078067	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95078067A>T	ENST00000535387.1	-	6	839	c.840T>A	c.(838-840)aaT>aaA	p.N280K	NOL8_ENST00000542053.1_Missense_Mutation_p.N212K|NOL8_ENST00000358855.4_Missense_Mutation_p.N212K|NOL8_ENST00000442668.2_Missense_Mutation_p.N280K|NOL8_ENST00000545558.1_Missense_Mutation_p.N280K					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TAAAAGGTAGATTTTTAAGTT	0.373																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(838-840)aaT>aaA		nucleolar protein 8							44.0	41.0	42.0					9																	95078067		1824	4088	5912	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95078067A>T	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.840T>A	9.37:g.95078067A>T	ENSP00000441300:p.Asn280Lys					NOL8_ENST00000442668.2_Missense_Mutation_p.N280K|NOL8_ENST00000358855.4_Missense_Mutation_p.N212K|NOL8_ENST00000535387.1_Missense_Mutation_p.N280K|NOL8_ENST00000542053.1_Missense_Mutation_p.N212K	p.N280K			Q76FK4	NOL8_HUMAN			7	1332	-			280						Missense_Mutation	SNP	ENST00000535387.1	37	c.840T>A	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	A	2.242	-0.373689	0.05034	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670;ENST00000433029	T;T;T;T;T;T;T	0.42513	2.56;2.57;2.56;2.78;2.57;2.3;0.97	5.46	-1.69	0.08186	.	1.423520	0.03747	N	0.255953	T	0.26159	0.0638	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.24297	-1.0164	10	0.52906	T	0.07	-6.4953	1.4311	0.02334	0.4316:0.223:0.2259:0.1195	.	280	Q76FK4	NOL8_HUMAN	K	280;282;212;280;280;212;280;280	ENSP00000401177:N280K;ENSP00000351723:N212K;ENSP00000441140:N280K;ENSP00000441300:N280K;ENSP00000440709:N212K;ENSP00000414112:N280K;ENSP00000412471:N280K	ENSP00000351723:N212K	N	-	3	2	NOL8	94117888	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	0.333000	0.19768	0.024000	0.15214	-0.323000	0.08544	AAT		0.373	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		10	31	0	0	0	1	0	10	31				
RANBP17	64901	broad.mit.edu	37	5	170669733	170669733	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170669733C>T	ENST00000523189.1	+	24	2849	c.2685C>T	c.(2683-2685)ctC>ctT	p.L895L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	895					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAATGTCTCACTCAGGACC	0.418			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2683-2685)ctC>ctT		RAN binding protein 17							190.0	169.0	176.0					5																	170669733		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170669733C>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2685C>T	5.37:g.170669733C>T						RANBP17_ENST00000521759.1_3'UTR	p.L895L	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		24	2849	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	895					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2685C>T	CCDS34287.1																																																																																				0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		36	95	0	0	0	1	0	36	95				
CRY2	1408	broad.mit.edu	37	11	45893726	45893726	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:45893726A>G	ENST00000443527.2	+	11	1811	c.1789A>G	c.(1789-1791)Aaa>Gaa	p.K597E	CRY2_ENST00000417225.2_Missense_Mutation_p.K515E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	576					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						AGAACTCAGCAAACGGGCCCG	0.597																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1789-1791)Aaa>Gaa		cryptochrome 2 (photolyase-like)							57.0	59.0	59.0					11																	45893726		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45893726A>G	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1789A>G	11.37:g.45893726A>G	ENSP00000406751:p.Lys597Glu					CRY2_ENST00000417225.2_Missense_Mutation_p.K515E	p.K597E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			11	1811	+			576					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1789A>G	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989958	0.54041	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.29	5.29	0.74685	.	0.451231	0.25529	N	0.030058	T	0.25457	0.0619	L	0.27053	0.805	0.31641	N	0.648036	B;P;B	0.38827	0.063;0.649;0.058	B;B;B	0.31547	0.012;0.132;0.027	T	0.31668	-0.9935	9	0.35671	T	0.21	-14.878	9.0142	0.36159	0.9183:0.0:0.0816:0.0	.	576;597;515	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	E	515;597	.	ENSP00000397419:K515E	K	+	1	0	CRY2	45850302	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.801000	0.69115	2.008000	0.58898	0.533000	0.62120	AAA		0.597	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		25	64	0	0	0	1	0	25	64				
SNX19	399979	broad.mit.edu	37	11	130784835	130784835	+	Missense_Mutation	SNP	C	C	T	rs143532789		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130784835C>T	ENST00000265909.4	-	1	1569	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E334K|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	334					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCTACAGCTTCGTGGCCTTCT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20379	0.0		0.001	False		,,,				2504	0.0					ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(1000-1002)Gaa>Aaa		sorting nexin 19		C	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	66.0	69.0	68.0		1000	5.5	1.0	11	dbSNP_134	68	6,8588	5.0+/-18.6	0,6,4291	yes	missense	SNX19	NM_014758.2	56	0,7,6491	TT,TC,CC		0.0698,0.0227,0.0539	probably-damaging	334/993	130784835	7,12989	2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130784835C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1000G>A	11.37:g.130784835C>T	ENSP00000265909:p.Glu334Lys					SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E334K	p.E334K	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	1	1569	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	334					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.1000G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528757	0.85706	2.27E-4	6.98E-4	ENSG00000120451	ENST00000265909;ENST00000533214	T;T	0.18657	2.2;2.2	5.48	5.48	0.80851	.	0.508797	0.23910	N	0.043351	T	0.35158	0.0922	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.70227	0.695;0.968	T	0.01587	-1.1318	10	0.32370	T	0.25	-16.8307	16.9124	0.86143	0.0:1.0:0.0:0.0	.	334;334	E9PKB9;Q92543	.;SNX19_HUMAN	K	334	ENSP00000265909:E334K;ENSP00000435390:E334K	ENSP00000265909:E334K	E	-	1	0	SNX19	130290045	0.781000	0.28676	1.000000	0.80357	0.983000	0.72400	2.279000	0.43435	2.598000	0.87819	0.644000	0.83932	GAA		0.502	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		31	76	0	0	0	1	0	31	76				
AKNA	80709	broad.mit.edu	37	9	117106079	117106079	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117106079G>A	ENST00000307564.4	-	19	3827	c.3666C>T	c.(3664-3666)caC>caT	p.H1222H	AKNA_ENST00000223791.3_Silent_p.H682H|AKNA_ENST00000374088.3_Silent_p.H1222H|AKNA_ENST00000374075.5_Silent_p.H1141H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.H167H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1222					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGTATTCGTGGCCTGGGG	0.517																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3664-3666)caC>caT		AT-hook transcription factor							73.0	73.0	73.0					9																	117106079		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117106079G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3666C>T	9.37:g.117106079G>A						AKNA_ENST00000374075.5_Silent_p.H1141H|AKNA_ENST00000374088.3_Silent_p.H1222H|AKNA_ENST00000223791.3_Silent_p.H682H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.H167H	p.H1222H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			19	3827	-			1222					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.3666C>T	CCDS6805.1																																																																																				0.517	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		19	52	0	0	0	1	0	19	52				
CCDC86	79080	broad.mit.edu	37	11	60615458	60615458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:60615458C>T	ENST00000227520.5	+	2	874	c.820C>T	c.(820-822)Cga>Tga	p.R274*	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Nonsense_Mutation_p.R18*	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	274					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GATGAAGGAACGACAGGAGAG	0.632																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(820-822)Cga>Tga		coiled-coil domain containing 86							105.0	97.0	99.0					11																	60615458		2203	4299	6502	SO:0001587	stop_gained	79080				interspecies interaction between organisms	nucleus		g.chr11:60615458C>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.820C>T	11.37:g.60615458C>T	ENSP00000227520:p.Arg274*					RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Nonsense_Mutation_p.R18*	p.R274*	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			2	874	+			274					B4DY99	Nonsense_Mutation	SNP	ENST00000227520.5	37	c.820C>T	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078522	0.97262	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	.	.	.	5.3	4.37	0.52481	.	0.154071	0.43919	D	0.000513	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1532	9.8929	0.41300	0.1571:0.6913:0.1516:0.0	.	.	.	.	X	274;18	.	ENSP00000227520:R274X	R	+	1	2	CCDC86	60372034	0.996000	0.38824	0.962000	0.40283	0.901000	0.52897	1.892000	0.39748	1.179000	0.42884	0.591000	0.81541	CGA		0.632	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		50	114	0	0	0	1	0	50	114				
HEY2	23493	broad.mit.edu	37	6	126080681	126080681	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:126080681C>T	ENST00000368364.3	+	5	944	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_ENST00000368365.1_Silent_p.C203C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	249					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCGCCCCCTGCGTGCCACCTC	0.672																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(745-747)tgC>tgT		hes-related family bHLH transcription factor with YRPW motif 2							170.0	151.0	157.0					6																	126080681		2203	4300	6503	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080681C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.747C>T	6.37:g.126080681C>T						HEY2_ENST00000368365.1_Silent_p.C203C	p.C249C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	944	+			249						Silent	SNP	ENST00000368364.3	37	c.747C>T	CCDS5131.1																																																																																				0.672	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			126	341	0	0	0	1	0	126	341				
OPA3	80207	broad.mit.edu	37	19	46056805	46056805	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46056805G>A	ENST00000263275.4	-	2	561	c.507C>T	c.(505-507)tcC>tcT	p.S169S	OPA3_ENST00000544371.1_Silent_p.S116S|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	169					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGTGGGAAGCGGACCGGCCGG	0.642																																						ENST00000263275.4																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(505-507)tcC>tcT		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							48.0	53.0	51.0					19																	46056805		2184	4267	6451	SO:0001819	synonymous_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056805G>A	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.507C>T	19.37:g.46056805G>A						OPA3_ENST00000544371.1_Silent_p.S116S|OPA3_ENST00000323060.3_Intron	p.S169S	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	561	-		Ovarian(192;0.051)|all_neural(266;0.112)	169					Q6P384|Q8N784	Silent	SNP	ENST00000263275.4	37	c.507C>T	CCDS12668.1																																																																																				0.642	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			7	124	0	0	0	1	0	7	124				
ZNF462	58499	broad.mit.edu	37	9	109687842	109687842	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:109687842C>T	ENST00000277225.5	+	3	1938	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.P550L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	550					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ccaccgccgccgccaccacca	0.602																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1648-1650)cCg>cTg		zinc finger protein 462							56.0	53.0	54.0					9																	109687842		2201	4298	6499	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687842C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1649C>T	9.37:g.109687842C>T	ENSP00000277225:p.Pro550Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.P550L	p.P550L			Q96JM2	ZN462_HUMAN			3	1938	+			550					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.1649C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748382	0.30955	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.21031	2.03;2.03	5.14	4.19	0.49359	.	0.000000	0.50627	D	0.000101	T	0.10809	0.0264	N	0.24115	0.695	0.80722	D	1	P;P	0.43885	0.82;0.725	B;B	0.31547	0.132;0.062	T	0.11446	-1.0587	9	.	.	.	.	11.4722	0.50275	0.1792:0.8208:0.0:0.0	.	550;550	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	550	ENSP00000277225:P550L;ENSP00000414570:P550L	.	P	+	2	0	ZNF462	108727663	0.001000	0.12720	0.400000	0.26346	0.042000	0.13812	0.013000	0.13310	2.550000	0.86006	0.561000	0.74099	CCG		0.602	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		8	28	0	0	0	1	0	8	28				
PSG4	5672	broad.mit.edu	37	19	43698508	43698508	+	Missense_Mutation	SNP	G	G	C	rs145716593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698508G>C	ENST00000405312.3	-	5	1464	c.1227C>G	c.(1225-1227)atC>atG	p.I409M	PSG4_ENST00000244295.9_Missense_Mutation_p.I316M|PSG4_ENST00000433626.2_Missense_Mutation_p.I316M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	409	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTGACTGTGATGGATTTGG	0.453																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1225-1227)atC>atG		pregnancy specific beta-1-glycoprotein 4		C	MET/ILE,MET/ILE	2,4404	825.7+/-416.5	0,2,2201	228.0	224.0	225.0		1227,948	1.2	0.0	19	dbSNP_134	225	0,8590		0,0,4295	no	missense,missense	PSG4	NM_002780.3,NM_213633.1	10,10	0,2,6496	CC,CG,GG		0.0,0.0454,0.0154	,	409/420,316/327	43698508	2,12994	2203	4295	6498	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698508G>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1227C>G	19.37:g.43698508G>C	ENSP00000384770:p.Ile409Met					PSG4_ENST00000433626.2_Missense_Mutation_p.I316M|PSG4_ENST00000244295.9_Missense_Mutation_p.I316M	p.I409M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1464	-		Prostate(69;0.00682)	409			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1227C>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.119415	0.00346	4.54E-4	0.0	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.14266	2.52;2.52;2.52	1.18	1.18	0.20946	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08714	0.0216	N	0.25992	0.78	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.13407	0.003;0.009;0.007	T	0.37663	-0.9696	9	0.33141	T	0.24	.	5.1741	0.15126	0.0:0.6247:0.3753:0.0	.	316;316;409	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	M	316;409;316	ENSP00000244295:I316M;ENSP00000384770:I409M;ENSP00000387864:I316M	ENSP00000244295:I316M	I	-	3	3	PSG4	48390348	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.876000	0.04201	-0.179000	0.10654	-0.387000	0.06579	ATC		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		86	214	0	0	0	1	0	86	214				
BANK1	55024	broad.mit.edu	37	4	102946626	102946626	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:102946626T>C	ENST00000322953.4	+	9	1828	c.1554T>C	c.(1552-1554)gcT>gcC	p.A518A	BANK1_ENST00000510950.1_3'UTR|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000428908.1_Silent_p.A385A|BANK1_ENST00000504592.1_Silent_p.A503A|BANK1_ENST00000444316.2_Silent_p.A488A|BANK1_ENST00000508653.1_Silent_p.A385A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	518					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACCTGTAGCTAATGCCTTCC	0.438																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(1507-1509)gcT>gcC		B-cell scaffold protein with ankyrin repeats 1							56.0	58.0	57.0					4																	102946626		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102946626T>C	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1554T>C	4.37:g.102946626T>C						BANK1_ENST00000444316.2_Silent_p.A488A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Silent_p.A518A|BANK1_ENST00000428908.1_Silent_p.A385A|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Silent_p.A385A	p.A503A			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	13	1927	+		Hepatocellular(203;0.217)	518					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1509T>C	CCDS34038.1																																																																																				0.438	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		6	26	0	0	0	1	0	6	26				
SPATS2L	26010	broad.mit.edu	37	2	201337651	201337651	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201337651A>G	ENST00000358677.5	+	12	1404	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N394S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.N386S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N317S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N326S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N386S|SPATS2L_ENST00000409988.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N416S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	386						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAACAGAGTAACTTTTCCCGA	0.532																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(1156-1158)aAc>aGc		spermatogenesis associated, serine-rich 2-like							70.0	75.0	74.0					2																	201337651		1979	4161	6140	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201337651A>G	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1157A>G	2.37:g.201337651A>G	ENSP00000351503:p.Asn386Ser					SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N386S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N416S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N326S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N394S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N317S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.N386S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.N386S	p.N386S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			12	1680	+			386					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.1157A>G	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	0.193	-1.051569	0.01981	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.39	1.59	0.23543	.	0.350601	0.28488	N	0.015163	T	0.19846	0.0477	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.27938	-1.0059	9	0.02654	T	1	-13.7286	5.9161	0.19055	0.5924:0.2429:0.1647:0.0	.	416;317;386	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	S	386;386;386;326;386;317;386;416;394	.	ENSP00000351503:N386S	N	+	2	0	SPATS2L	201045896	0.003000	0.15002	0.898000	0.35279	0.579000	0.36224	-0.023000	0.12456	0.510000	0.28216	0.533000	0.62120	AAC		0.532	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		18	72	0	0	0	1	0	18	72				
C15orf54	400360	broad.mit.edu	37	15	39544513	39544513	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:39544513G>A	ENST00000318578.3	+	2	545	c.177G>A	c.(175-177)acG>acA	p.T59T	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(175-177)acG>acA		chromosome 15 open reading frame 54							249.0	250.0	249.0					15																	39544513		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544513G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.177G>A	15.37:g.39544513G>A						RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	545	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	59		T -> M (in dbSNP:rs11853050).			B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.177G>A	CCDS10049.1																																																																																				0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		122	311	0	0	0	1	0	122	311				
TSPAN33	340348	broad.mit.edu	37	7	128807691	128807691	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:128807691G>A	ENST00000289407.4	+	8	937	c.828G>A	c.(826-828)caG>caA	p.Q276Q	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	276					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACAACCAGCAGCACCGGGCTG	0.517																																						ENST00000289407.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(826-828)caG>caA		tetraspanin 33							86.0	76.0	80.0					7																	128807691		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128807691G>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.828G>A	7.37:g.128807691G>A							p.Q276Q	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN			8	937	+			276						Silent	SNP	ENST00000289407.4	37	c.828G>A	CCDS5810.1																																																																																				0.517	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		11	22	0	0	0	1	0	11	22				
AMY2B	280	broad.mit.edu	37	1	104117872	104117872	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117872G>A	ENST00000361355.4	+	8	1522	c.906G>A	c.(904-906)atG>atA	p.M302I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGGGTTTCATGCCTTCTGACA	0.418																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(904-906)atG>atA		amylase, alpha 2B (pancreatic)							286.0	287.0	287.0					1																	104117872		2203	4297	6500	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117872G>A	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.906G>A	1.37:g.104117872G>A	ENSP00000354610:p.Met302Ile					AMY2B_ENST00000491397.1_3'UTR	p.M302I	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1522	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	302					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.906G>A	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.791094	0.50102	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	5.26	4.32	0.51571	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.260843	0.47852	D	0.000215	D	0.95456	0.8524	L	0.48362	1.52	0.52099	D	0.999945	B	0.21905	0.062	B	0.29440	0.102	D	0.93931	0.7214	10	0.41790	T	0.15	.	15.9828	0.80125	0.0:0.1344:0.8656:0.0	.	302	P19961	AMY2B_HUMAN	I	302	ENSP00000354610:M302I	ENSP00000354610:M302I	M	+	3	0	AMY2B	103919395	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.702000	0.74628	2.462000	0.83206	0.558000	0.71614	ATG		0.418	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		8	405	0	0	0	1	0	8	405				
ZMYM1	79830	broad.mit.edu	37	1	35579045	35579045	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35579045C>T	ENST00000373330.1	+	11	1788	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.D538D			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	538						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTCAGTGACGATTTATCTA	0.313																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1612-1614)gaC>gaT		zinc finger, MYM-type 1							108.0	108.0	108.0					1																	35579045		1808	4087	5895	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579045C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1614C>T	1.37:g.35579045C>T						ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.D538D	p.D538D			Q5SVZ6	ZMYM1_HUMAN			11	1788	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	538					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1614C>T	CCDS41302.1																																																																																				0.313	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		4	173	0	0	0	1	0	4	173				
RPRD2	23248	broad.mit.edu	37	1	150444464	150444464	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150444464A>T	ENST00000369068.4	+	11	3044	c.3040A>T	c.(3040-3042)Aaa>Taa	p.K1014*	RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Nonsense_Mutation_p.K988*	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1014						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATATGCTTAAAAACGCCTC	0.542																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2962-2964)Aaa>Taa		regulation of nuclear pre-mRNA domain containing 2							204.0	205.0	204.0					1																	150444464		1963	4151	6114	SO:0001587	stop_gained	23248						protein binding	g.chr1:150444464A>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3040A>T	1.37:g.150444464A>T	ENSP00000358064:p.Lys1014*					RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.K1014*|RPRD2_ENST00000492220.1_3'UTR	p.K988*			Q5VT52	RPRD2_HUMAN			10	3027	+			1014					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Nonsense_Mutation	SNP	ENST00000369068.4	37	c.2962A>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	35	5.580186	0.96565	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5746	15.2302	0.73381	1.0:0.0:0.0:0.0	.	.	.	.	X	988;1014	.	ENSP00000358064:K1014X	K	+	1	0	RPRD2	148711088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.116000	0.71571	2.178000	0.69098	0.528000	0.53228	AAA		0.542	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		15	361	0	0	0	1	0	15	361				
KEAP1	9817	broad.mit.edu	37	19	10597450	10597450	+	Missense_Mutation	SNP	C	C	T	rs200652594		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10597450C>T	ENST00000171111.5	-	6	2300	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	KEAP1_ENST00000393623.2_Missense_Mutation_p.D585N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	585					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GTATCTGGGTCGTAACACTCC	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15420	0.0		0.0	False		,,,				2504	0.0					ENST00000171111.5																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(1753-1755)Gac>Aac		kelch-like ECH-associated protein 1							110.0	96.0	101.0					19																	10597450		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10597450C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1753G>A	19.37:g.10597450C>T	ENSP00000171111:p.Asp585Asn					KEAP1_ENST00000393623.2_Missense_Mutation_p.D585N	p.D585N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		6	2300	-			585					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1753G>A	CCDS12239.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.31	2.197801	0.38806	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.86769	-2.17;-2.17	5.9	5.9	0.94986	Kelch-type beta propeller (1);	0.141910	0.64402	D	0.000005	T	0.82195	0.4984	L	0.52206	1.635	0.54753	D	0.999985	B	0.26445	0.149	B	0.22152	0.038	T	0.76302	-0.3009	10	0.27082	T	0.32	.	11.132	0.48351	0.0:0.917:0.0:0.083	.	585	Q14145	KEAP1_HUMAN	N	585	ENSP00000171111:D585N;ENSP00000377245:D585N	ENSP00000171111:D585N	D	-	1	0	KEAP1	10458450	0.999000	0.42202	0.996000	0.52242	0.163000	0.22366	4.234000	0.58658	2.811000	0.96726	0.555000	0.69702	GAC		0.592	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		37	99	0	0	0	1	0	37	99				
CES3	23491	broad.mit.edu	37	16	67006865	67006865	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67006865G>T	ENST00000303334.4	+	13	1700	c.1629G>T	c.(1627-1629)tgG>tgT	p.W543C	CES3_ENST00000394037.1_Missense_Mutation_p.W540C|CES3_ENST00000543856.1_Missense_Mutation_p.W182C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	543						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)	p.W543*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGAGGCCTGGATGCAGTTCT	0.577																																						ENST00000303334.4																			1	Substitution - Nonsense(1)	p.W543*(1)	endometrium(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1627-1629)tgG>tgT		carboxylesterase 3							88.0	82.0	84.0					16																	67006865		2200	4300	6500	SO:0001583	missense	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006865G>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1629G>T	16.37:g.67006865G>T	ENSP00000304782:p.Trp543Cys					CES3_ENST00000543856.1_Missense_Mutation_p.W182C|CES3_ENST00000394037.1_Missense_Mutation_p.W540C	p.W543C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	13	1700	+		Ovarian(137;0.0563)	543					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	ENST00000303334.4	37	c.1629G>T	CCDS10826.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269281	0.40095	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.66815	-0.23;-0.23;-0.23	5.03	-2.31	0.06765	Carboxylesterase, type B (1);	1.042350	0.07715	N	0.942718	T	0.43456	0.1248	N	0.14661	0.345	0.09310	N	1	B;P	0.35192	0.111;0.489	B;B	0.32624	0.05;0.149	T	0.35624	-0.9781	10	0.87932	D	0	.	4.6403	0.12545	0.4033:0.2936:0.3032:0.0	.	182;543	F5H242;Q6UWW8	.;EST3_HUMAN	C	543;540;182	ENSP00000304782:W543C;ENSP00000377602:W540C;ENSP00000445559:W182C	ENSP00000304782:W543C	W	+	3	0	CES3	65564366	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.356000	0.07661	-0.450000	0.07107	-1.223000	0.01593	TGG		0.577	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		27	43	1	0	2.44723e-14	1	2.55836e-14	27	43				
MAP3K10	4294	broad.mit.edu	37	19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A	rs368709344		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40720904G>A	ENST00000253055.3	+	10	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	857					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.R857H(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677																																						ENST00000253055.3																			1	Substitution - Missense(1)	p.R857H(1)	ovary(1)	NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(2569-2571)cGc>cAc		mitogen-activated protein kinase kinase kinase 10		G	HIS/ARG	1,4363		0,1,2181	20.0	19.0	20.0		2570	3.5	1.0	19		20	0,8512		0,0,4256	no	missense	MAP3K10	NM_002446.3	29	0,1,6437	AA,AG,GG		0.0,0.0229,0.0078	benign	857/955	40720904	1,12875	2182	4256	6438	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40720904G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2570G>A	19.37:g.40720904G>A	ENSP00000253055:p.Arg857His						p.R857H	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			10	2858	+			857					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.2570G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.272036	0.40194	2.29E-4	0.0	ENSG00000130758	ENST00000253055	T	0.78364	-1.17	4.5	3.46	0.39613	.	0.113352	0.64402	N	0.000009	T	0.69984	0.3172	L	0.52573	1.65	0.44890	D	0.9979	B	0.14438	0.01	B	0.08055	0.003	T	0.66548	-0.5896	10	0.45353	T	0.12	.	10.269	0.43473	0.0975:0.0:0.9025:0.0	.	857	Q02779	M3K10_HUMAN	H	857	ENSP00000253055:R857H	ENSP00000253055:R857H	R	+	2	0	MAP3K10	45412744	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	5.602000	0.67612	1.117000	0.41842	0.511000	0.50034	CGC		0.677	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		17	43	0	0	0	1	0	17	43				
MARK2	2011	broad.mit.edu	37	11	63672512	63672512	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63672512G>A	ENST00000509502.2	+	16	2292	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	MARK2_ENST00000502399.3_Missense_Mutation_p.R643H|MARK2_ENST00000350490.7_Missense_Mutation_p.R589H|MARK2_ENST00000402010.2_Missense_Mutation_p.R644H|MARK2_ENST00000413835.2_Missense_Mutation_p.R590H|MARK2_ENST00000315032.8_Missense_Mutation_p.R644H|MARK2_ENST00000377810.3_Missense_Mutation_p.R556H|MARK2_ENST00000513765.2_Missense_Mutation_p.R611H|MARK2_ENST00000361128.5_Missense_Mutation_p.R590H|MARK2_ENST00000508192.1_Missense_Mutation_p.R589H|MARK2_ENST00000425897.2_Missense_Mutation_p.R564H|MARK2_ENST00000408948.3_Missense_Mutation_p.R556H|MARK2_ENST00000377809.4_Missense_Mutation_p.R644H	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGTTTGTACGCAGGTAAGCA	0.632																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1930-1932)cGc>cAc		MAP/microtubule affinity-regulating kinase 2							61.0	72.0	68.0					11																	63672512		2196	4293	6489	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672512G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1829G>A	11.37:g.63672512G>A	ENSP00000423974:p.Arg610His					MARK2_ENST00000509502.2_Missense_Mutation_p.R610H|MARK2_ENST00000361128.5_Missense_Mutation_p.R590H|MARK2_ENST00000315032.8_Missense_Mutation_p.R644H|MARK2_ENST00000350490.7_Missense_Mutation_p.R589H|MARK2_ENST00000502399.3_Missense_Mutation_p.R643H|MARK2_ENST00000508192.1_Missense_Mutation_p.R589H|MARK2_ENST00000408948.3_Missense_Mutation_p.R556H|MARK2_ENST00000377809.4_Missense_Mutation_p.R644H|MARK2_ENST00000377810.3_Missense_Mutation_p.R556H|MARK2_ENST00000413835.2_Missense_Mutation_p.R590H|MARK2_ENST00000425897.2_Missense_Mutation_p.R564H|MARK2_ENST00000513765.2_Missense_Mutation_p.R611H	p.R644H	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2510	+			644						Missense_Mutation	SNP	ENST00000509502.2	37	c.1931G>A	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	16.23	3.065575	0.55539	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.75821	0.41;0.41;0.41;0.41;0.41;0.41;0.41;-0.97;0.41;0.41;0.41;0.41	4.5	3.57	0.40892	.	0.060735	0.64402	D	0.000003	D	0.83510	0.5270	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.996;1.0	P;D;D;D;P;D	0.80764	0.879;0.955;0.969;0.994;0.858;0.988	D	0.84840	0.0807	10	0.72032	D	0.01	.	11.7078	0.51607	0.0888:0.0:0.9112:0.0	.	564;610;589;590;644;589	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	H	644;644;644;590;556;589;590;589;645;610;611;556;564	ENSP00000385751:R644H;ENSP00000326632:R644H;ENSP00000367040:R644H;ENSP00000389184:R590H;ENSP00000367041:R556H;ENSP00000425765:R589H;ENSP00000355091:R590H;ENSP00000294247:R589H;ENSP00000423974:R610H;ENSP00000421075:R611H;ENSP00000386128:R556H;ENSP00000415494:R564H	ENSP00000326632:R644H	R	+	2	0	MARK2	63429088	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.654000	0.98509	1.248000	0.43934	0.450000	0.29827	CGC		0.632	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		60	132	0	0	0	1	0	60	132				
RYR1	6261	broad.mit.edu	37	19	38976306	38976306	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38976306G>A	ENST00000359596.3	+	34	5011	c.5011G>A	c.(5011-5013)Gct>Act	p.A1671T	RYR1_ENST00000355481.4_Missense_Mutation_p.A1671T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1671T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1671	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTCTACCGCGCTGTGTGCGC	0.667																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5011-5013)Gct>Act		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						46.0	44.0	45.0					19																	38976306		2202	4295	6497	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976306G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5011G>A	19.37:g.38976306G>A	ENSP00000352608:p.Ala1671Thr					RYR1_ENST00000360985.3_Missense_Mutation_p.A1671T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1671T	p.A1671T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5142	+	all_cancers(60;7.91e-06)		1671			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5011G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.719763	0.48728	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97505	-4.41;-4.41;-4.41	4.07	1.78	0.24846	.	0.440024	0.19570	U	0.111113	D	0.97570	0.9204	M	0.81341	2.54	0.25419	N	0.988285	D;D	0.65815	0.995;0.991	P;P	0.57502	0.744;0.822	D	0.93584	0.6915	10	0.87932	D	0	.	11.8354	0.52321	0.0:0.0:0.4032:0.5968	.	1671;1671	P21817-2;P21817	.;RYR1_HUMAN	T	1671	ENSP00000352608:A1671T;ENSP00000347667:A1671T;ENSP00000354254:A1671T	ENSP00000347667:A1671T	A	+	1	0	RYR1	43668146	1.000000	0.71417	0.830000	0.32933	0.915000	0.54546	3.001000	0.49488	0.297000	0.22615	0.650000	0.86243	GCT		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			30	74	0	0	0	1	0	30	74				
KIF5C	3800	broad.mit.edu	37	2	149853788	149853788	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:149853788C>T	ENST00000435030.1	+	18	2402	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Silent_p.H446H			O60282	KIF5C_HUMAN	kinesin family member 5C	678					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2032-2034)caC>caT		kinesin family member 5C							101.0	99.0	100.0					2																	149853788		1988	4184	6172	SO:0001819	synonymous_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149853788C>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2034C>T	2.37:g.149853788C>T						KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000397413.1_Silent_p.H446H	p.H678H			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	18	2402	+			678					O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37	c.2034C>T																																																																																					0.408	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		11	31	0	0	0	1	0	11	31				
PATL1	219988	broad.mit.edu	37	11	59415348	59415348	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:59415348C>T	ENST00000300146.9	-	15	1856	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	591	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTTCCCTTTTCGGATACACAT	0.443																																						ENST00000300146.9																			0				central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						c.(1771-1773)cGa>cAa		protein associated with topoisomerase II homolog 1 (yeast)							105.0	97.0	100.0					11																	59415348		1924	4142	6066	SO:0001583	missense	219988				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding	g.chr11:59415348C>T	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.1772G>A	11.37:g.59415348C>T	ENSP00000300146:p.Arg591Gln						p.R591Q	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN			15	1856	-			591			Region C.		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	c.1772G>A	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505448	0.85282	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.52295	0.67	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.67258	0.2874	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.98	T	0.61569	-0.7036	10	0.40728	T	0.16	-12.2094	20.2117	0.98287	0.0:1.0:0.0:0.0	.	561;591	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	Q	591;561	ENSP00000300146:R591Q	ENSP00000300146:R591Q	R	-	2	0	PATL1	59171924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.878000	0.98634	0.650000	0.86243	CGA		0.443	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716		12	47	0	0	0	1	0	12	47				
SEZ6	124925	broad.mit.edu	37	17	27285095	27285095	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27285095C>T	ENST00000317338.12	-	11	2600	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Silent_p.S724S|SEZ6_ENST00000360295.9_Silent_p.S724S|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	724	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCTCAGGCTGCGATGGGCTCT	0.612																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(2170-2172)tcG>tcA		seizure related 6 homolog (mouse)							87.0	88.0	88.0					17																	27285095		2092	4212	6304	SO:0001819	synonymous_variant	124925					integral to membrane|plasma membrane		g.chr17:27285095C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2172G>A	17.37:g.27285095C>T						PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.S724S|SEZ6_ENST00000360295.9_Silent_p.S724S|SEZ6_ENST00000335960.6_Intron	p.S724S			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		11	2600	-	Lung NSC(42;0.0137)		724			Sushi 3.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	ENST00000317338.12	37	c.2172G>A	CCDS45639.1																																																																																				0.612	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			18	80	0	0	0	1	0	18	80				
MYO9B	4650	broad.mit.edu	37	19	17270255	17270255	+	Silent	SNP	C	C	T	rs376878511		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17270255C>T	ENST00000594824.1	+	8	1527	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000397274.2_Silent_p.T460T|MYO9B_ENST00000595618.1_Silent_p.T460T			Q13459	MYO9B_HUMAN	myosin IXB	460	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAACGGTGACCGTCAACGACA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		16073	0.001		0.0	False		,,,				2504	0.0					ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1378-1380)acC>acT		myosin IXB							103.0	101.0	101.0					19																	17270255		1979	4157	6136	SO:0001819	synonymous_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17270255C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1380C>T	19.37:g.17270255C>T						MYO9B_ENST00000594824.1_Silent_p.T460T|MYO9B_ENST00000397274.2_Silent_p.T460T|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA	p.T460T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			8	1532	+			460			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Silent	SNP	ENST00000594824.1	37	c.1380C>T																																																																																					0.517	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			4	20	0	0	0	1	0	4	20				
PGM2	55276	broad.mit.edu	37	4	37831682	37831682	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:37831682G>A	ENST00000381967.4	+	2	278	c.178G>A	c.(178-180)Gct>Act	p.A60T	PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame|PGM2_ENST00000537241.1_De_novo_Start_OutOfFrame	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	60					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTGGGACAGCTGGCCTCCG	0.423																																						ENST00000537241.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19								phosphoglucomutase 2							79.0	82.0	81.0					4																	37831682		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37831682G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.178G>A	4.37:g.37831682G>A	ENSP00000371393:p.Ala60Thr					PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame|PGM2_ENST00000381967.4_Missense_Mutation_p.A60T				Q96G03	PGM2_HUMAN			0	190	+								B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Translation_Start_Site	SNP	ENST00000381967.4	37		CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405371	0.83230	.	.	ENSG00000169299	ENST00000381967	T	0.65364	-0.15	5.64	4.8	0.61643	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.050692	0.85682	N	0.000000	D	0.84911	0.5577	H	0.96111	3.77	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.89072	0.3470	10	0.56958	D	0.05	-15.4726	14.3935	0.66996	0.0717:0.0:0.9283:0.0	.	60	Q96G03	PGM2_HUMAN	T	60	ENSP00000371393:A60T	ENSP00000371393:A60T	A	+	1	0	PGM2	37508077	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	9.364000	0.97136	1.378000	0.46305	0.650000	0.86243	GCT		0.423	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		16	38	0	0	0	1	0	16	38				
SLC5A7	60482	broad.mit.edu	37	2	108626820	108626820	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:108626820G>A	ENST00000264047.2	+	9	1522	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	SLC5A7_ENST00000540517.1_Missense_Mutation_p.V311I|SLC5A7_ENST00000409059.1_Missense_Mutation_p.V416I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	416					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTTTACATCGTTATCTTCCC	0.483																																						ENST00000264047.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1246-1248)Gtt>Att		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)						280.0	223.0	243.0					2																	108626820		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108626820G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1246G>A	2.37:g.108626820G>A	ENSP00000264047:p.Val416Ile					SLC5A7_ENST00000409059.1_Missense_Mutation_p.V416I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V311I	p.V416I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN			9	1522	+			416					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1246G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	2.606	-0.291836	0.05568	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88277	-2.36;-2.36;-2.36	5.95	3.47	0.39725	.	0.134780	0.64402	N	0.000002	T	0.60077	0.2241	N	0.00315	-1.66	0.28369	N	0.920077	B	0.02656	0.0	B	0.09377	0.004	T	0.57814	-0.7746	10	0.02654	T	1	-21.1766	9.3279	0.38003	0.7969:0.0:0.2031:0.0	.	416	Q9GZV3	SC5A7_HUMAN	I	416;311;416	ENSP00000387346:V416I;ENSP00000445351:V311I;ENSP00000264047:V416I	ENSP00000264047:V416I	V	+	1	0	SLC5A7	107993252	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.357000	0.66058	0.505000	0.28104	-0.300000	0.09419	GTT		0.483	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			22	67	0	0	0	1	0	22	67				
PLCG1	5335	broad.mit.edu	37	20	39796522	39796522	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:39796522C>T	ENST00000373271.1	+	20	2737	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PLCG1_ENST00000373272.2_Missense_Mutation_p.R778C|PLCG1_ENST00000244007.3_Missense_Mutation_p.R778C	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	778					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)				GTATGAGGGACGCAACCCTGG	0.552																																						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.(2332-2334)Cgc>Tgc		phospholipase C, gamma 1							77.0	69.0	72.0					20																	39796522		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.chr20:39796522C>T	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.2332C>T	20.37:g.39796522C>T	ENSP00000362368:p.Arg778Cys					PLCG1_ENST00000244007.3_Missense_Mutation_p.R778C|PLCG1_ENST00000373271.1_Missense_Mutation_p.R778C	p.R778C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			20	2737	+		Myeloproliferative disorder(115;0.00878)	778					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.2332C>T	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882429	0.72294	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.68331	-0.32;-0.32;-0.32	5.03	5.03	0.67393	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	L	0.53249	1.67	0.80722	D	1	D;D;D	0.61080	0.989;0.981;0.981	P;P;P	0.54924	0.764;0.586;0.586	T	0.74124	-0.3766	10	0.59425	D	0.04	.	13.4995	0.61445	0.1561:0.8439:0.0:0.0	.	778;778;778	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	C	778	ENSP00000244007:R778C;ENSP00000362368:R778C;ENSP00000362369:R778C	ENSP00000244007:R778C	R	+	1	0	PLCG1	39229936	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.123000	0.50453	2.614000	0.88457	0.655000	0.94253	CGC		0.552	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		7	25	0	0	0	1	0	7	25				
OR9G1	390174	broad.mit.edu	37	11	56467959	56467959	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56467959C>T	ENST00000312153.1	+	1	96	c.96C>T	c.(94-96)ggC>ggT	p.G32G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGTTCCTGGGCGTGTACTCTC	0.502																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(94-96)ggC>ggT		olfactory receptor, family 9, subfamily G, member 1							181.0	157.0	165.0					11																	56467959		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56467959C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.96C>T	11.37:g.56467959C>T							p.G32G	NM_001005213.1	NP_001005213.1					1	96	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.96C>T	CCDS31536.1																																																																																				0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		24	113	0	0	0	1	0	24	113				
SLC9A3R2	9351	broad.mit.edu	37	16	2086422	2086422	+	Missense_Mutation	SNP	G	G	A	rs555526303	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2086422G>A	ENST00000424542.2	+	3	650	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R60Q|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R65Q|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R171Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	171	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						GACAAGTCCCGGCCCGGCCAG	0.687													g|||	2	0.000399361	0.0	0.0014	5008	,	,		15509	0.001		0.0	False		,,,				2504	0.0				Ovarian(69;105 1552 17724 23473)	ENST00000424542.2																			0				central_nervous_system(1)|endometrium(1)	2						c.(511-513)cGg>cAg		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2							16.0	22.0	20.0					16																	2086422		2060	4200	6260	SO:0001583	missense	9351				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding	g.chr16:2086422G>A	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.512G>A	16.37:g.2086422G>A	ENSP00000408005:p.Arg171Gln					SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R60Q|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R171Q|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R65Q	p.R171Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN			3	650	+			171			PDZ 2.		D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Missense_Mutation	SNP	ENST00000424542.2	37	c.512G>A	CCDS45382.1	.	.	.	.	.	.	.	.	.	.	g	16.49	3.137239	0.56936	.	.	ENSG00000065054	ENST00000424542;ENST00000432365	T;T	0.24908	1.83;1.83	4.05	4.05	0.47172	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	L	0.33753	1.03	0.52501	D	0.999953	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.70935	0.969;0.887;0.971	T	0.09997	-1.0649	10	0.34782	T	0.22	-33.5443	15.3827	0.74673	0.0:0.0:1.0:0.0	.	206;171;171	Q6NTG0;D3DU85;Q15599	.;.;NHRF2_HUMAN	Q	171	ENSP00000408005:R171Q;ENSP00000402857:R171Q	ENSP00000408005:R171Q	R	+	2	0	SLC9A3R2	2026423	0.994000	0.37717	1.000000	0.80357	0.691000	0.40173	2.792000	0.47837	2.092000	0.63282	0.306000	0.20318	CGG		0.687	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			5	11	0	0	0	1	0	5	11				
BMP7	655	broad.mit.edu	37	20	55758849	55758849	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:55758849C>T	ENST00000395863.3	-	4	1392	c.887G>A	c.(886-888)aGc>aAc	p.S296N	BMP7_ENST00000450594.2_Missense_Mutation_p.S296N|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	296					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCGCTGTTTGCTCCCCGTGGA	0.632																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(886-888)aGc>aAc		bone morphogenetic protein 7							82.0	72.0	75.0					20																	55758849		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758849C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.887G>A	20.37:g.55758849C>T	ENSP00000379204:p.Ser296Asn					BMP7_ENST00000450594.2_Missense_Mutation_p.S296N|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	p.S296N	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1392	-	all_lung(29;0.0133)|Melanoma(10;0.242)		296					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.887G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	8.533	0.871450	0.17322	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;T	0.80566	-0.93;-1.39	5.48	1.0	0.19881	.	0.488812	0.25405	N	0.030912	T	0.60025	0.2237	N	0.11560	0.145	0.09310	N	0.99999	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.38908	-0.9639	10	0.13108	T	0.6	.	12.6431	0.56720	0.121:0.5288:0.3502:0.0	.	296;296	P18075;B1AL00	BMP7_HUMAN;.	N	296	ENSP00000379204:S296N;ENSP00000398687:S296N	ENSP00000379204:S296N	S	-	2	0	BMP7	55192256	1.000000	0.71417	0.697000	0.30258	0.946000	0.59487	3.154000	0.50693	0.236000	0.21180	0.643000	0.83706	AGC		0.632	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			25	94	0	0	0	1	0	25	94				
WDR63	126820	broad.mit.edu	37	1	85589838	85589838	+	Silent	SNP	C	C	T	rs138281012	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85589838C>T	ENST00000294664.6	+	19	2196	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	WDR63_ENST00000370596.1_Silent_p.D633D|WDR63_ENST00000326813.8_Silent_p.D633D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	672										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCATTCACGACGGAACTGTCC	0.443													C|||	36	0.0071885	0.0	0.0	5008	,	,		22792	0.0		0.0	False		,,,				2504	0.0368					ENST00000294664.6																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(2014-2016)gaC>gaT		WD repeat domain 63		C		1,4405	2.1+/-5.4	0,1,2202	296.0	235.0	256.0		2016	-4.7	0.7	1	dbSNP_134	256	18,8582	12.6+/-44.7	0,18,4282	no	coding-synonymous	WDR63	NM_145172.3		0,19,6484	TT,TC,CC		0.2093,0.0227,0.1461		672/892	85589838	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85589838C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2016C>T	1.37:g.85589838C>T						WDR63_ENST00000370596.1_Silent_p.D633D|WDR63_ENST00000326813.8_Silent_p.D633D	p.D672D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	19	2196	+			672					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.2016C>T	CCDS702.1																																																																																				0.443	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		30	74	0	0	0	1	0	30	74				
MCM10	55388	broad.mit.edu	37	10	13230974	13230974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13230974C>T	ENST00000484800.2	+	10	1415	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.R437*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.R437*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	438					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTGGAGGACGAATTCCAAA	0.537																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1309-1311)Cga>Tga		minichromosome maintenance complex component 10							129.0	124.0	126.0					10																	13230974		2203	4300	6503	SO:0001587	stop_gained	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13230974C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1312C>T	10.37:g.13230974C>T	ENSP00000418268:p.Arg438*					MCM10_ENST00000378714.3_Nonsense_Mutation_p.R437*|MCM10_ENST00000484800.2_Nonsense_Mutation_p.R438*	p.R437*			Q7L590	MCM10_HUMAN			9	1384	+			438					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	c.1309C>T	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	40	8.359748	0.98777	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.62	5.62	0.85841	.	0.351100	0.33477	N	0.004878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8259	20.0359	0.97557	0.0:1.0:0.0:0.0	.	.	.	.	X	437;438;438;437	.	ENSP00000354945:R438X	R	+	1	2	MCM10	13270980	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	3.554000	0.53720	2.805000	0.96524	0.655000	0.94253	CGA		0.537	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		5	175	0	0	0	1	0	5	175				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	136	0	0	0	1	0	4	136				
NR2E1	7101	broad.mit.edu	37	6	108492739	108492739	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:108492739G>A	ENST00000368986.4	+	2	811	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	NR2E1_ENST00000368983.3_Missense_Mutation_p.G72S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	35					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGCCTGCGACGGCTGCTCAGG	0.567																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(103-105)Ggc>Agc		nuclear receptor subfamily 2, group E, member 1							114.0	126.0	122.0					6																	108492739		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108492739G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.103G>A	6.37:g.108492739G>A	ENSP00000357982:p.Gly35Ser					NR2E1_ENST00000368983.3_Missense_Mutation_p.G72S	p.G35S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	2	811	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	35					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.103G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597537	0.96602	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96913	-4.17;-4.17	5.39	5.39	0.77823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.045768	0.85682	D	0.000000	D	0.98147	0.9388	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99035	1.0822	10	0.87932	D	0	.	18.7646	0.91866	0.0:0.0:1.0:0.0	.	35	Q9Y466	NR2E1_HUMAN	S	35;72	ENSP00000357982:G35S;ENSP00000357979:G72S	ENSP00000357979:G72S	G	+	1	0	NR2E1	108599432	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.542000	0.85734	0.561000	0.74099	GGC		0.567	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			65	172	0	0	0	1	0	65	172				
SIGLEC14	100049587	broad.mit.edu	37	19	52147073	52147073	+	Missense_Mutation	SNP	G	G	A	rs200742621		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:52147073G>A	ENST00000360844.6	-	5	1012	c.971C>T	c.(970-972)cCg>cTg	p.P324L	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	324	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGCCCAGCGGATGCTGAAC	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11945	0.0		0.0	False		,,,				2504	0.0					ENST00000360844.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(970-972)cCg>cTg		sialic acid binding Ig-like lectin 14							47.0	54.0	52.0					19																	52147073		1802	4040	5842	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147073G>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.971C>T	19.37:g.52147073G>A	ENSP00000354090:p.Pro324Leu					SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	p.P324L	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	1012	-		all_neural(266;0.0299)	324			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.971C>T	CCDS42604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.921	0.738609	0.15642	.	.	ENSG00000254415	ENST00000360844	T	0.13089	2.62	3.09	-3.75	0.04372	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.648533	0.12695	N	0.446807	T	0.08133	0.0203	L	0.49699	1.58	0.09310	N	1	P	0.45715	0.865	B	0.36335	0.222	T	0.14643	-1.0465	10	0.44086	T	0.13	.	2.5645	0.04779	0.3749:0.0:0.2594:0.3657	.	324	Q08ET2	SIG14_HUMAN	L	324	ENSP00000354090:P324L	ENSP00000354090:P324L	P	-	2	0	SIGLEC14	56838885	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	-0.346000	0.07760	-0.537000	0.06290	-0.251000	0.11542	CCG		0.577	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		29	64	0	0	0	1	0	29	64				
DUSP18	150290	broad.mit.edu	37	22	31059579	31059579	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31059579G>A	ENST00000334679.3	-	2	917	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	DUSP18_ENST00000403268.1_Missense_Mutation_p.P101L|DUSP18_ENST00000404885.1_Missense_Mutation_p.R138W|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.R138W	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	138	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATGATGGGCCGGCATGACTTG	0.582																																						ENST00000403268.1																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(301-303)cCg>cTg		dual specificity phosphatase 18							114.0	94.0	101.0					22																	31059579		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059579G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.412C>T	22.37:g.31059579G>A	ENSP00000333917:p.Arg138Trp					DUSP18_ENST00000334679.3_Missense_Mutation_p.R138W|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.R138W|DUSP18_ENST00000407308.1_Missense_Mutation_p.R138W	p.P101L			Q8NEJ0	DUS18_HUMAN			3	772	-			0			Tyrosine-protein phosphatase.		B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.302C>T	CCDS13883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.361225|4.361225	0.82353|0.82353	.|.	.|.	ENSG00000167065|ENSG00000167065	ENST00000403268|ENST00000404885;ENST00000407308;ENST00000334679;ENST00000342474	.|T;T;T;T	.|0.78364	.|-1.17;-1.17;-1.17;-1.17	5.27|5.27	3.1|3.1	0.35709|0.35709	.|Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90947|0.90947	0.7154|0.7154	H|H	0.97635|0.97635	4.045|4.045	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90639|0.90639	0.4573|0.4573	6|10	0.42905|0.87932	T|D	0.14|0	.|.	9.4072|9.4072	0.38469|0.38469	0.0:0.1369:0.5623:0.3008|0.0:0.1369:0.5623:0.3008	.|.	.|138	.|Q8NEJ0	.|DUS18_HUMAN	L|W	101|138	.|ENSP00000385463:R138W;ENSP00000386063:R138W;ENSP00000333917:R138W;ENSP00000340795:R138W	ENSP00000384946:P101L|ENSP00000333917:R138W	P|R	-|-	2|1	0|2	DUSP18|DUSP18	29389579|29389579	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.394000|5.394000	0.66285|0.66285	0.549000|0.549000	0.28973|0.28973	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.582	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			23	64	0	0	0	1	0	23	64				
ITGB2	3689	broad.mit.edu	37	21	46323417	46323417	+	Missense_Mutation	SNP	C	C	T	rs376053062		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46323417C>T	ENST00000397850.2	-	6	814	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000302347.5_Missense_Mutation_p.R121Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCTTGGCCCGCCGGAAGGT	0.592																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(361-363)cGg>cAg		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						96.0	81.0	86.0					21																	46323417		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46323417C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.362G>A	21.37:g.46323417C>T	ENSP00000380948:p.Arg121Gln					ITGB2_ENST00000302347.5_Missense_Mutation_p.R121Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121Q	p.R121Q			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	814	-			121					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.362G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	35	5.562123	0.96527	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000320216;ENST00000523663;ENST00000522931	D;D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	4.58	4.58	0.56647	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.93321	0.7871	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92764	0.6226	9	0.40728	T	0.16	.	14.9138	0.70778	0.0:1.0:0.0:0.0	.	121	P05107	ITB2_HUMAN	Q	121;121;121;121;121;112;121;121	ENSP00000380950:R121Q;ENSP00000380955:R121Q;ENSP00000347279:R121Q;ENSP00000380948:R121Q;ENSP00000303242:R121Q;ENSP00000317697:R112Q;ENSP00000428503:R121Q;ENSP00000428979:R121Q	ENSP00000303242:R121Q	R	-	2	0	ITGB2	45147845	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.209000	0.77916	2.381000	0.81170	0.555000	0.69702	CGG		0.592	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		21	63	0	0	0	1	0	21	63				
MAN1C1	57134	broad.mit.edu	37	1	26012962	26012962	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26012962G>A	ENST00000374332.4	+	2	902	c.572G>A	c.(571-573)cGt>cAt	p.R191H	MAN1C1_ENST00000263979.3_Missense_Mutation_p.R11H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	191					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTATAAGCGTTATGCAATG	0.493																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(571-573)cGt>cAt		mannosidase, alpha, class 1C, member 1							187.0	177.0	180.0					1																	26012962		2203	4300	6503	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26012962G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.572G>A	1.37:g.26012962G>A	ENSP00000363452:p.Arg191His					MAN1C1_ENST00000263979.3_Missense_Mutation_p.R11H	p.R191H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	2	902	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	191					A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.572G>A	CCDS265.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005836	0.19199	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979	T;T	0.72615	-0.67;-0.67	5.19	1.81	0.25067	.	0.556527	0.19258	N	0.118753	T	0.58609	0.2134	L	0.48986	1.54	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53056	-0.8492	10	0.62326	D	0.03	.	3.7958	0.08738	0.2112:0.0:0.578:0.2107	.	191	Q9NR34	MA1C1_HUMAN	H	191;11;11	ENSP00000363452:R191H;ENSP00000263979:R11H	ENSP00000263979:R11H	R	+	2	0	MAN1C1	25885549	0.566000	0.26618	0.238000	0.24106	0.653000	0.38743	0.775000	0.26689	0.222000	0.20900	0.563000	0.77884	CGT		0.493	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		44	127	0	0	0	1	0	44	127				
NBAS	51594	broad.mit.edu	37	2	15372633	15372633	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:15372633C>A	ENST00000281513.5	-	47	6174	c.6149G>T	c.(6148-6150)gGt>gTt	p.G2050V	NBAS_ENST00000441750.1_Missense_Mutation_p.G1930V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2050					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCACTGCCACCACTGTGAAA	0.483																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6148-6150)gGt>gTt		neuroblastoma amplified sequence							72.0	59.0	63.0					2																	15372633		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15372633C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6149G>T	2.37:g.15372633C>A	ENSP00000281513:p.Gly2050Val					NBAS_ENST00000441750.1_Missense_Mutation_p.G1930V	p.G2050V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			47	6174	-			2050					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6149G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.358237|3.358237	0.61403|0.61403	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461|ENST00000442506	T;T;T|.	0.53206|.	2.83;3.01;0.63|.	5.67|5.67	3.89|3.89	0.44902|0.44902	.|.	0.097858|.	0.64402|.	D|.	0.000001|.	T|T	0.63803|0.63803	0.2542|0.2542	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.995|.	D;D|.	0.77004|.	0.989;0.92|.	T|T	0.60692|0.60692	-0.7213|-0.7213	10|5	0.87932|.	D|.	0|.	.|.	11.5654|11.5654	0.50802|0.50802	0.0:0.8553:0.0:0.1447|0.0:0.8553:0.0:0.1447	.|.	1930;2050|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	V|L	1930;2050;142|1098	ENSP00000413201:G1930V;ENSP00000281513:G2050V;ENSP00000392421:G142V|.	ENSP00000281513:G2050V|.	G|V	-|-	2|1	0|0	NBAS|NBAS	15290084|15290084	0.733000|0.733000	0.28132|0.28132	0.674000|0.674000	0.29902|0.29902	0.851000|0.851000	0.48451|0.48451	1.361000|1.361000	0.34136|0.34136	0.761000|0.761000	0.33130|0.33130	-0.136000|-0.136000	0.14681|0.14681	GGT|GTG		0.483	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		9	30	1	0	2.74318e-10	1	2.85122e-10	9	30				
SEMA6C	10500	broad.mit.edu	37	1	151105902	151105902	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151105902G>A	ENST00000341697.3	-	19	3542	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	617					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTGAGGCGCCCAGGGCAA	0.731																																						ENST00000341697.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(1849-1851)ggC>ggT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C							18.0	21.0	20.0					1																	151105902		2196	4289	6485	SO:0001819	synonymous_variant	10500					integral to membrane	receptor activity	g.chr1:151105902G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1851C>T	1.37:g.151105902G>A							p.G617G			Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		19	3542	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		617					D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	c.1851C>T	CCDS984.1																																																																																				0.731	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		5	7	0	0	0	1	0	5	7				
DIO2	1734	broad.mit.edu	37	14	80677671	80677671	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:80677671C>T	ENST00000557010.1	-	3	530	c.145G>A	c.(145-147)Gga>Aga	p.G49R	DIO2_ENST00000422005.3_Missense_Mutation_p.G49R|DIO2_ENST00000438257.4_Missense_Mutation_p.G49R|DIO2_ENST00000555750.1_Missense_Mutation_p.G49R|DIO2_ENST00000557125.1_Intron|DIO2-AS1_ENST00000553979.1_RNA	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	49					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGCCACTCTCCGCGAGTGGAC	0.577																																						ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(145-147)Gga>Aga		deiodinase, iodothyronine, type II							36.0	39.0	38.0					14																	80677671		2035	4178	6213	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80677671C>T	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.145G>A	14.37:g.80677671C>T	ENSP00000451419:p.Gly49Arg					DIO2_ENST00000438257.4_Missense_Mutation_p.G49R|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000555750.1_Missense_Mutation_p.G49R|DIO2_ENST00000422005.3_Missense_Mutation_p.G49R	p.G49R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	3	530	-			49					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.145G>A	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769550	0.69992	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000554188	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.7	4.82	0.62117	.	0.408600	0.22197	N	0.063283	T	0.52517	0.1739	M	0.76574	2.34	0.43073	D	0.99471	B;D;B;P	0.76494	0.078;0.999;0.257;0.798	B;D;B;B	0.68483	0.018;0.958;0.042;0.229	T	0.56805	-0.7918	10	0.87932	D	0	.	10.6813	0.45815	0.0:0.8546:0.0:0.1454	.	49;49;49;49	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	R	49	ENSP00000405854:G49R;ENSP00000451419:G49R;ENSP00000411438:G49R;ENSP00000450980:G49R;ENSP00000451136:G49R	ENSP00000373490:G49R	G	-	1	0	DIO2	79747424	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.267000	0.51577	1.400000	0.46741	0.650000	0.86243	GGA		0.577	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			7	25	0	0	0	1	0	7	25				
SAMD10	140700	broad.mit.edu	37	20	62607080	62607080	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:62607080C>T	ENST00000369886.3	-	4	725	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	184	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCTCCTCACGCACCTGCAG	0.682																																						ENST00000369886.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7						c.(550-552)cGt>cAt		sterile alpha motif domain containing 10							51.0	57.0	55.0					20																	62607080		2203	4299	6502	SO:0001583	missense	140700							g.chr20:62607080C>T		CCDS13549.1	20q13.33	2013-01-10	2004-07-15	2004-07-16	ENSG00000130590	ENSG00000130590		"""Sterile alpha motif (SAM) domain containing"""	16129	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 136"""	C20orf136			Standard	NM_080621		Approved		uc002yhm.2	Q9BYL1	OTTHUMG00000033011	ENST00000369886.3:c.551G>A	20.37:g.62607080C>T	ENSP00000358902:p.Arg184His					ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron|SAMD10_ENST00000498830.1_5'UTR	p.R184H	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN			4	725	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		184			SAM.			Missense_Mutation	SNP	ENST00000369886.3	37	c.551G>A	CCDS13549.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280710	0.59758	.	.	ENSG00000130590	ENST00000369886	.	.	.	3.99	3.04	0.35103	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.248924	0.33075	U	0.005313	T	0.40791	0.1131	L	0.44542	1.39	0.45806	D	0.998681	P	0.42584	0.784	B	0.34590	0.186	T	0.39057	-0.9632	9	0.72032	D	0.01	-7.1777	11.4399	0.50090	0.0:0.91:0.0:0.09	.	184	Q9BYL1	SAM10_HUMAN	H	184	.	ENSP00000358902:R184H	R	-	2	0	SAMD10	62077524	0.993000	0.37304	0.998000	0.56505	0.992000	0.81027	3.058000	0.49939	0.683000	0.31428	0.491000	0.48974	CGT		0.682	SAMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080255.1	NM_080621		50	99	0	0	0	1	0	50	99				
JMJD8	339123	broad.mit.edu	37	16	733031	733031	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:733031C>T	ENST00000293882.4	-	8	845	c.846G>A	c.(844-846)acG>acA	p.T282T	JMJD8_ENST00000454700.1_Silent_p.T252T|JMJD8_ENST00000412368.2_Silent_p.T233T|JMJD8_ENST00000609261.1_Silent_p.T212T|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000562824.1_Silent_p.T182T			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	282	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						GCCAGGCCAGCGTGGTCTTGT	0.642																																						ENST00000293882.4																			0				breast(1)	1						c.(844-846)acG>acA		jumonji domain containing 8							87.0	102.0	97.0					16																	733031		2127	4233	6360	SO:0001819	synonymous_variant	339123							g.chr16:733031C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.846G>A	16.37:g.733031C>T						JMJD8_ENST00000412368.2_Silent_p.T233T|JMJD8_ENST00000562824.1_Silent_p.T182T|JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000454700.1_Silent_p.T252T	p.T282T			Q96S16	JMJD8_HUMAN			8	845	-			282			JmjC.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Silent	SNP	ENST00000293882.4	37	c.846G>A																																																																																					0.642	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		39	56	0	0	0	1	0	39	56				
USPL1	10208	broad.mit.edu	37	13	31227350	31227350	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:31227350C>T	ENST00000255304.4	+	8	1646	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	435	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348																																					Ovarian(60;318 1180 1554 28110 31601)	ENST00000255304.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34						c.(1303-1305)gCa>gTa		ubiquitin specific peptidase like 1							184.0	180.0	181.0					13																	31227350		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31227350C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1304C>T	13.37:g.31227350C>T	ENSP00000255304:p.Ala435Val						p.A435V	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	8	1646	+		Lung SC(185;0.0257)|Breast(139;0.203)	435					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.1304C>T	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	7.769	0.707076	0.15239	.	.	ENSG00000132952	ENST00000255304	T	0.44482	0.92	5.46	1.75	0.24633	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.852515	0.10796	N	0.633215	T	0.31888	0.0811	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.28681	-1.0036	10	0.72032	D	0.01	-0.6549	7.1805	0.25770	0.1204:0.6832:0.0:0.1964	.	435	Q5W0Q7	USPL1_HUMAN	V	435	ENSP00000255304:A435V	ENSP00000255304:A435V	A	+	2	0	USPL1	30125350	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	1.645000	0.37238	0.075000	0.16796	0.655000	0.94253	GCA		0.348	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		26	86	0	0	0	1	0	26	86				
PRRC2B	84726	broad.mit.edu	37	9	134346320	134346320	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:134346320C>T	ENST00000357304.4	+	13	2112	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.T686M|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T686M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	686							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACGTATCACGCCCACTCGG	0.607																																						ENST00000357304.4																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2056-2058)aCg>aTg		proline-rich coiled-coil 2B							55.0	56.0	56.0					9																	134346320		2093	4209	6302	SO:0001583	missense	84726						protein binding	g.chr9:134346320C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2057C>T	9.37:g.134346320C>T	ENSP00000349856:p.Thr686Met					PRRC2B_ENST00000458550.1_Missense_Mutation_p.T686M|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T686M	p.T686M	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			13	2112	+			686					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.2057C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725810	0.30593	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.10382	2.88;2.88;2.88	5.84	5.84	0.93424	.	0.579427	0.13892	U	0.355579	T	0.10723	0.0262	N	0.10782	0.045	0.80722	D	1	D	0.67145	0.996	P	0.46885	0.53	T	0.40869	-0.9540	10	0.37606	T	0.19	0.0029	19.1261	0.93384	0.0:1.0:0.0:0.0	.	686	Q5JSZ5	PRC2B_HUMAN	M	686	ENSP00000384606:T686M;ENSP00000349856:T686M;ENSP00000398853:T686M	ENSP00000349856:T686M	T	+	2	0	PRRC2B	133336141	0.582000	0.26749	0.019000	0.16419	0.036000	0.12997	5.745000	0.68672	2.779000	0.95612	0.655000	0.94253	ACG		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	43	0	0	0	1	0	5	43				
TCAP	8557	broad.mit.edu	37	17	37822127	37822127	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37822127C>T	ENST00000309889.2	+	2	1442	c.269C>T	c.(268-270)cCg>cTg	p.P90L	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000581428.1_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.P66L|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	90			P -> L (in CMD1N). {ECO:0000269|PubMed:16352453}.		adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGTACTGCCGCTGCCCATC	0.672																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2	GRCh37	CM062009	TCAP	M		c.(268-270)cCg>cTg		titin-cap							18.0	19.0	19.0					17																	37822127		2199	4291	6490	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822127C>T	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.269C>T	17.37:g.37822127C>T	ENSP00000312624:p.Pro90Leu					TCAP_ENST00000578283.1_Missense_Mutation_p.P66L	p.P90L			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1442	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		90		P -> L (in CMD1N).			Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.269C>T	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001435	0.54254	.	.	ENSG00000173991	ENST00000309889	D	0.88818	-2.43	5.71	5.71	0.89125	.	0.053598	0.85682	D	0.000000	D	0.91294	0.7255	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92265	0.5820	10	0.72032	D	0.01	-54.5123	18.616	0.91303	0.0:1.0:0.0:0.0	.	90	O15273	TELT_HUMAN	L	90	ENSP00000312624:P90L	ENSP00000312624:P90L	P	+	2	0	TCAP	35075653	1.000000	0.71417	0.978000	0.43139	0.860000	0.49131	6.699000	0.74613	2.695000	0.91970	0.462000	0.41574	CCG		0.672	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		7	23	0	0	0	1	0	7	23				
AHDC1	27245	broad.mit.edu	37	1	27873946	27873946	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27873946C>T	ENST00000247087.5	-	5	5277	c.4681G>A	c.(4681-4683)Gac>Aac	p.D1561N	AHDC1_ENST00000374011.2_Missense_Mutation_p.D1561N			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1561							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAGGCGGTGTCCTGCAGGGGC	0.692																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(4681-4683)Gac>Aac		AT hook, DNA binding motif, containing 1							38.0	46.0	43.0					1																	27873946		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27873946C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4681G>A	1.37:g.27873946C>T	ENSP00000247087:p.Asp1561Asn					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.D1561N	p.D1561N	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5649	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1561					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4681G>A	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061489	0.55432	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.55930	0.49;0.49	5.33	5.33	0.75918	.	0.372753	0.26362	N	0.024813	T	0.58366	0.2117	N	0.24115	0.695	0.44214	D	0.997049	D	0.64830	0.994	P	0.60886	0.88	T	0.63559	-0.6610	10	0.87932	D	0	-16.1337	17.7973	0.88577	0.0:1.0:0.0:0.0	.	1561	Q5TGY3	AHDC1_HUMAN	N	1561	ENSP00000247087:D1561N;ENSP00000363123:D1561N	ENSP00000247087:D1561N	D	-	1	0	AHDC1	27746533	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.270000	0.65547	2.518000	0.84900	0.557000	0.71058	GAC		0.692	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			7	125	0	0	0	1	0	7	125				
TTC3	7267	broad.mit.edu	37	21	38460555	38460555	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:38460555G>A	ENST00000399017.2	+	4	2994	c.247G>A	c.(247-249)Gat>Aat	p.D83N	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.D83N|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.D83N|TTC3_ENST00000354749.2_Missense_Mutation_p.D83N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	83					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATTATTGCGATGCCATTAA	0.348																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(247-249)Gat>Aat		tetratricopeptide repeat domain 3							96.0	85.0	88.0					21																	38460555		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38460555G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.247G>A	21.37:g.38460555G>A	ENSP00000381981:p.Asp83Asn					TTC3_ENST00000540756.1_Intron|TTC3_ENST00000354749.2_Missense_Mutation_p.D83N|TTC3_ENST00000355666.1_Missense_Mutation_p.D83N|TTC3_ENST00000399010.1_Missense_Mutation_p.D83N|TTC3_ENST00000479930.1_3'UTR	p.D83N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			4	2994	+		Myeloproliferative disorder(46;0.0412)	83					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.247G>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913503	0.52439	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T	0.52754	2.48;0.65;2.48;2.79;2.79;2.79	4.82	4.82	0.62117	.	0.113111	0.38720	N	0.001582	T	0.39860	0.1094	L	0.47716	1.5	0.80722	D	1	P	0.38745	0.645	B	0.34093	0.175	T	0.31364	-0.9946	10	0.33141	T	0.24	-23.7002	15.1809	0.72956	0.0:0.0:1.0:0.0	.	83	P53804	TTC3_HUMAN	N	83	ENSP00000403943:D83N;ENSP00000408456:D83N;ENSP00000391891:D83N;ENSP00000347889:D83N;ENSP00000381981:D83N;ENSP00000346791:D83N	ENSP00000346791:D83N	D	+	1	0	TTC3	37382425	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.750000	0.55157	2.359000	0.80004	0.557000	0.71058	GAT		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			26	49	0	0	0	1	0	26	49				
CABIN1	23523	broad.mit.edu	37	22	24459593	24459593	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24459593G>A	ENST00000398319.2	+	14	2253	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R573H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R623H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	623					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGCTCGCTTCCTGGCG	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1867-1869)cGc>cAc		calcineurin binding protein 1							174.0	147.0	156.0					22																	24459593		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24459593G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1868G>A	22.37:g.24459593G>A	ENSP00000381364:p.Arg623His					CABIN1_ENST00000405822.2_Missense_Mutation_p.R573H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R623H	p.R623H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			14	2253	+			623					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1868G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826412	0.90955	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.37584	1.19;1.19;1.19	4.78	4.78	0.61160	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.48843	-0.8999	10	0.36615	T	0.2	.	17.758	0.88455	0.0:0.0:1.0:0.0	.	573;623	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	H	623;573;623	ENSP00000263119:R623H;ENSP00000384694:R573H;ENSP00000381364:R623H	ENSP00000263119:R623H	R	+	2	0	CABIN1	22789593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.349000	0.97066	2.616000	0.88540	0.650000	0.86243	CGC		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		43	99	0	0	0	1	0	43	99				
GNRHR	2798	broad.mit.edu	37	4	68610374	68610374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610374G>T	ENST00000226413.4	-	2	678	c.654C>A	c.(652-654)tgC>tgA	p.C218*	UBA6-AS1_ENST00000500538.2_RNA|SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P176T	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	TGATGAAGAGGCAGCTGAAGG	0.433																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(652-654)tgC>tgA		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						135.0	140.0	139.0					4																	68610374		2203	4300	6503	SO:0001587	stop_gained	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610374G>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.654C>A	4.37:g.68610374G>T	ENSP00000226413:p.Cys218*					RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P176T	p.C218*	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			2	678	-			218					O75793|Q14D13|Q92644	Nonsense_Mutation	SNP	ENST00000226413.4	37	c.654C>A	CCDS3517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.194391|5.194391	0.94960|0.94960	.|.	.|.	ENSG00000109163|ENSG00000109163	ENST00000226413|ENST00000420975	.|T	.|0.70869	.|-0.52	5.51|5.51	4.65|4.65	0.58169|0.58169	.|.	0.275574|.	0.32314|.	N|.	0.006264|.	.|T	.|0.78123	.|0.4234	.|.	.|.	.|.	0.31390|0.31390	N|N	0.677999|0.677999	.|D	.|0.55800	.|0.973	.|P	.|0.54026	.|0.74	.|T	.|0.81019	.|-0.1122	.|8	0.02654|0.62326	T|D	1|0.03	-2.4573|-2.4573	14.305|14.305	0.66380|0.66380	0.0:0.1499:0.8501:0.0|0.0:0.1499:0.8501:0.0	.|.	.|176	.|P30968-2	.|.	X|T	218|176	.|ENSP00000397561:P176T	ENSP00000226413:C218X|ENSP00000397561:P176T	C|P	-|-	3|1	2|0	GNRHR|GNRHR	68292969|68292969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.295000|2.295000	0.43576|0.43576	1.439000|1.439000	0.47511|0.47511	0.643000|0.643000	0.83706|0.83706	TGC|CCT		0.433	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			33	77	1	0	1.61788e-16	1	1.69298e-16	33	77				
B4GALNT4	338707	broad.mit.edu	37	11	380294	380294	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:380294C>T	ENST00000329962.6	+	18	2718	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	906					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCCAGGACGCCAGCAGCA	0.701																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2716-2718)gaC>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 4							65.0	49.0	54.0					11																	380294		2203	4299	6502	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:380294C>T	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2718C>T	11.37:g.380294C>T							p.D906D	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2718	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	906					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.2718C>T	CCDS7694.1																																																																																				0.701	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		19	54	0	0	0	1	0	19	54				
KDM5B	10765	broad.mit.edu	37	1	202698198	202698198	+	Missense_Mutation	SNP	C	C	T	rs536339877		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:202698198C>T	ENST00000367265.3	-	27	5765	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1534					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACAGTACAGCGCACACAGAT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		16914	0.0		0.001	False		,,,				2504	0.0					ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4600-4602)cGc>cAc		lysine (K)-specific demethylase 5B							135.0	130.0	132.0					1																	202698198		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202698198C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4601G>A	1.37:g.202698198C>T	ENSP00000356234:p.Arg1534His					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570H	p.R1534H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			27	5765	-			1534					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4601G>A	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291679	0.40594	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.84944	-1.92;-1.92	5.85	5.85	0.93711	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.286833	0.42821	D	0.000656	T	0.78426	0.4281	L	0.33137	0.985	0.31325	N	0.685523	B;B	0.16396	0.017;0.017	B;B	0.12837	0.008;0.008	T	0.74830	-0.3531	10	0.38643	T	0.18	-10.0296	13.3804	0.60764	0.0:0.9284:0.0:0.0716	.	1570;1534	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	H	1534;1376;1570	ENSP00000356234:R1534H;ENSP00000356233:R1570H	ENSP00000356233:R1570H	R	-	2	0	KDM5B	200964821	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.552000	0.45828	2.768000	0.95171	0.655000	0.94253	CGC		0.473	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		28	68	0	0	0	1	0	28	68				
SEC16A	9919	broad.mit.edu	37	9	139350603	139350603	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:139350603G>A	ENST00000371706.3	-	17	5065	c.5032C>T	c.(5032-5034)Cga>Tga	p.R1678*	SEC16A_ENST00000290037.6_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.R1856*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1678					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGAAGAGTCGTAACTGGGAA	0.567																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(5566-5568)Cga>Tga		SEC16 homolog A (S. cerevisiae)							60.0	63.0	62.0					9																	139350603		1923	4128	6051	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139350603G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5032C>T	9.37:g.139350603G>A	ENSP00000360771:p.Arg1678*					SEC16A_ENST00000290037.6_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.R1678*	p.R1856*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	17	5639	-		Myeloproliferative disorder(178;0.0511)	1678			Pro-rich.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37	c.5566C>T		.	.	.	.	.	.	.	.	.	.	G	44	11.263840	0.99539	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.3099	15.3663	0.74526	0.0:0.0:1.0:0.0	.	.	.	.	X	1856;250;578;1678;1678;1678;1246	.	ENSP00000277537:R250X	R	-	1	2	SEC16A	138470424	1.000000	0.71417	0.329000	0.25429	0.968000	0.65278	2.590000	0.46154	2.463000	0.83235	0.561000	0.74099	CGA		0.567	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	77	0	0	0	1	0	4	77				
IKBIP	121457	broad.mit.edu	37	12	99020465	99020465	+	Intron	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:99020465T>C	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Missense_Mutation_p.N126S|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTTGGAGGTTGGATACTTC	0.393																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(376-378)aAc>aGc		IKBKB interacting protein							86.0	83.0	84.0					12																	99020465		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020465T>C	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7608A>G	12.37:g.99020465T>C						IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron	p.N126S	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	750	-			128					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.377A>G	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	0.466	-0.886846	0.02511	.	.	ENSG00000166130	ENST00000299157	T	0.39787	1.06	5.68	3.83	0.44106	.	0.779066	0.12807	N	0.437503	T	0.23330	0.0564	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03773	-1.1005	9	0.07325	T	0.83	-1.0127	10.3718	0.44058	0.0:0.5429:0.3825:0.0746	.	126	Q70UQ0-4	.	S	126	ENSP00000299157:N126S	ENSP00000299157:N126S	N	-	2	0	IKBIP	97544596	0.857000	0.29778	1.000000	0.80357	0.924000	0.55760	0.186000	0.16978	0.710000	0.31997	-0.242000	0.12053	AAC		0.393	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		22	52	0	0	0	1	0	22	52				
PDGFRA	5156	broad.mit.edu	37	4	55140716	55140716	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55140716C>T	ENST00000257290.5	+	11	1908	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	526					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TCTGAACTCACGGTGGCTGCT	0.478			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1576-1578)aCg>aTg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						174.0	156.0	162.0					4																	55140716		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140716C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1577C>T	4.37:g.55140716C>T	ENSP00000257290:p.Thr526Met	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.T526M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1908	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		526					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1577C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475325	0.84640	.	.	ENSG00000134853	ENST00000257290	T	0.76968	-1.06	6.07	6.07	0.98685	.	0.000000	0.32970	U	0.005429	D	0.87661	0.6233	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.84374	0.0545	10	0.34782	T	0.22	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	526;526	P16234-3;P16234	.;PGFRA_HUMAN	M	526	ENSP00000257290:T526M	ENSP00000257290:T526M	T	+	2	0	PDGFRA	54835473	1.000000	0.71417	0.971000	0.41717	0.705000	0.40729	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	ACG		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		25	84	0	0	0	1	0	25	84				
RPTOR	57521	broad.mit.edu	37	17	78831654	78831654	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78831654G>A	ENST00000306801.3	+	13	1825	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.R303Q|RPTOR_ENST00000544334.2_Missense_Mutation_p.R488Q	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	488					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGAGAGCTGCGGCCACTTCTC	0.652																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(1462-1464)cGg>cAg		regulatory associated protein of MTOR, complex 1							73.0	66.0	68.0					17																	78831654		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78831654G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1463G>A	17.37:g.78831654G>A	ENSP00000307272:p.Arg488Gln					RPTOR_ENST00000544334.2_Missense_Mutation_p.R488Q|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Missense_Mutation_p.R303Q	p.R488Q	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			13	1825	+			488					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1463G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938687	0.92526	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T;T	0.48522	0.81;0.81;0.81	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.70727	0.3257	M	0.82132	2.575	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;P;P	0.69479	0.964;0.891;0.629	T	0.74093	-0.3776	10	0.54805	T	0.06	.	18.7278	0.91720	0.0:0.0:1.0:0.0	.	488;303;488	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	Q	303;488;488	ENSP00000440947:R303Q;ENSP00000307272:R488Q;ENSP00000442479:R488Q	ENSP00000307272:R488Q	R	+	2	0	RPTOR	76446249	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.119000	0.94362	2.425000	0.82216	0.591000	0.81541	CGG		0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		8	53	0	0	0	1	0	8	53				
GNRHR	2798	broad.mit.edu	37	4	68610375	68610375	+	Missense_Mutation	SNP	C	C	T	rs151105045	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610375C>T	ENST00000226413.4	-	2	677	c.653G>A	c.(652-654)tGc>tAc	p.C218Y	UBA6-AS1_ENST00000500538.2_RNA|SNORA62_ENST00000365504.1_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.L175L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGAGGCAGCTGAAGGT	0.438																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(652-654)tGc>tAc		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						136.0	141.0	139.0					4																	68610375		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68610375C>T		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.653G>A	4.37:g.68610375C>T	ENSP00000226413:p.Cys218Tyr					RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L175L	p.C218Y	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			2	677	-			218					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.653G>A	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306616	0.60305	.	.	ENSG00000109163	ENST00000226413	T	0.37411	1.2	5.51	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.275574	0.32314	N	0.006264	T	0.54175	0.1842	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.59115	0.852	T	0.58624	-0.7604	9	0.72032	D	0.01	-2.4573	12.798	0.57569	0.3387:0.6613:0.0:0.0	.	218	P30968	GNRHR_HUMAN	Y	218	ENSP00000226413:C218Y	ENSP00000226413:C218Y	C	-	2	0	GNRHR	68292970	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.238000	0.32707	0.740000	0.32651	-0.294000	0.09567	TGC		0.438	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			35	77	0	0	0	1	0	35	77				
ROBO4	54538	broad.mit.edu	37	11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(1816-1818)Cgc>Tgc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							26.0	32.0	30.0					11																	124761327		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761327G>A	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1816C>T	11.37:g.124761327G>A	ENSP00000304945:p.Arg606Cys					ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	p.R606C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2301	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	606					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1816C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937980	0.18206	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.24	6.11	1.95	0.26073	.	0.389841	0.19154	N	0.121379	T	0.52468	0.1736	M	0.65975	2.015	0.34129	D	0.665067	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.52094	-0.8621	10	0.33141	T	0.24	.	4.1764	0.10353	0.2735:0.0:0.5689:0.1575	.	606;496;606	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	606;496;461	ENSP00000304945:R606C;ENSP00000437129:R461C	ENSP00000304945:R606C	R	-	1	0	ROBO4	124266537	0.937000	0.31787	0.452000	0.26994	0.311000	0.27955	0.378000	0.20569	0.419000	0.25927	-0.137000	0.14449	CGC		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		18	64	0	0	0	1	0	18	64				
SETBP1	26040	broad.mit.edu	37	18	42281464	42281464	+	Silent	SNP	C	C	T	rs372870881		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:42281464C>T	ENST00000282030.5	+	2	449	c.153C>T	c.(151-153)ggC>ggT	p.G51G	SETBP1_ENST00000426838.4_Silent_p.G51G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	51						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGGTGGGCGGAGAGCGCA	0.622									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(151-153)ggC>ggT		SET binding protein 1		C	,	0,4406		0,0,2203	47.0	43.0	44.0		153,153	-9.0	0.3	18		44	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	SETBP1	NM_001130110.1,NM_015559.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	51/243,51/1597	42281464	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42281464C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.153C>T	18.37:g.42281464C>T						SETBP1_ENST00000426838.4_Silent_p.G51G	p.G51G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	2	449	+			51					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.153C>T	CCDS11923.2																																																																																				0.622	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		6	50	0	0	0	1	0	6	50				
ARNT	405	broad.mit.edu	37	1	150790487	150790487	+	Missense_Mutation	SNP	G	G	A	rs143491065		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150790487G>A	ENST00000358595.5	-	15	1614	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	ARNT_ENST00000515192.1_Missense_Mutation_p.R458W|ARNT_ENST00000505755.1_Missense_Mutation_p.R457W|ARNT_ENST00000354396.2_Missense_Mutation_p.R472W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	472					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTAGGCCGTGGTTCTTGG	0.517			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(1414-1416)Cgg>Tgg		aryl hydrocarbon receptor nuclear translocator		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	101.0	102.0		1369,1414,1369	4.0	1.0	1	dbSNP_134	102	0,8600		0,0,4300	no	missense,missense,missense	ARNT	NM_001197325.1,NM_001668.3,NM_178427.2	101,101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	457/774,472/790,457/775	150790487	1,13005	2203	4300	6503	SO:0001583	missense	0				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150790487G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.1414C>T	1.37:g.150790487G>A	ENSP00000351407:p.Arg472Trp					ARNT_ENST00000515192.1_Missense_Mutation_p.R458W|ARNT_ENST00000505755.1_Missense_Mutation_p.R457W|ARNT_ENST00000354396.2_Missense_Mutation_p.R472W	p.R472W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		15	1614	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		472					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.1414C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965366	0.74131	2.27E-4	0.0	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000505755	T;T;T;T	0.05649	3.52;3.52;3.51;3.41	5.96	4.04	0.47022	.	0.302235	0.32161	N	0.006486	T	0.11239	0.0274	L	0.60455	1.87	0.51233	D	0.999919	D;P;P;D;D	0.89917	0.999;0.669;0.532;1.0;0.999	P;B;B;P;P	0.62435	0.902;0.049;0.049;0.899;0.902	T	0.01015	-1.1480	10	0.72032	D	0.01	.	15.2089	0.73202	0.0:0.0:0.7301:0.2699	.	457;472;458;457;472	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	W	472;472;458;457	ENSP00000351407:R472W;ENSP00000346372:R472W;ENSP00000423851:R458W;ENSP00000427571:R457W	ENSP00000346372:R472W	R	-	1	2	ARNT	149057111	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.906000	0.56340	0.797000	0.33971	0.585000	0.79938	CGG		0.517	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			7	16	0	0	0	1	0	7	16				
TTN	7273	broad.mit.edu	37	2	179501179	179501179	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179501179C>T	ENST00000591111.1	-	175	36576	c.36352G>A	c.(36352-36354)Gtt>Att	p.V12118I	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4819I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11191I|TTN_ENST00000342175.6_Missense_Mutation_p.V4886I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V13759I|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4694I			Q8WZ42	TITIN_HUMAN	titin	12118	Ig-like 80.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACGTAAAACACAGGTGTAT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(41275-41277)Gtt>Att		titin							65.0	62.0	63.0					2																	179501179		1832	4093	5925	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501179C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36352G>A	2.37:g.179501179C>T	ENSP00000465570:p.Val12118Ile					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4819I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4886I|TTN_ENST00000342992.6_Missense_Mutation_p.V11191I|TTN_ENST00000460472.2_Missense_Mutation_p.V4694I|TTN_ENST00000591111.1_Missense_Mutation_p.V12118I	p.V13759I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		225	41499	-			12118			Ig-like 94.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.41275G>A		.	.	.	.	.	.	.	.	.	.	C	15.72	2.917583	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65460	0.2693	L	0.35644	1.08	0.49687	D	0.999813	P;P;P;P	0.41978	0.619;0.619;0.619;0.767	B;B;B;B	0.43331	0.172;0.172;0.172;0.416	T	0.68746	-0.5327	9	0.87932	D	0	.	19.9641	0.97260	0.0:1.0:0.0:0.0	.	4694;4819;4886;12118	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	11191;4694;4886;4819;4694	ENSP00000343764:V11191I;ENSP00000434586:V4694I;ENSP00000340554:V4886I;ENSP00000352154:V4819I	ENSP00000340554:V4886I	V	-	1	0	TTN	179209424	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.034000	0.70933	2.719000	0.93026	0.650000	0.86243	GTT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	51	0	0	0	1	0	6	51				
LRRC66	339977	broad.mit.edu	37	4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	rs543351323	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						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						GAACATGCCCGGAAACTCATC	0.463													G|||	5	0.000998403	0.0	0.0	5008	,	,		18476	0.0		0.0	False		,,,				2504	0.0051					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.(2455-2457)cCg>cTg		leucine rich repeat containing 66							65.0	67.0	66.0					4																	52860732		1885	4114	5999	SO:0001583	missense	339977					integral to membrane		g.chr4:52860732G>A	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.2456C>T	4.37:g.52860732G>A	ENSP00000341944:p.Pro819Leu						p.P819L	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2462	-			819						Missense_Mutation	SNP	ENST00000343457.3	37	c.2456C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	1.908	-0.451422	0.04572	.	.	ENSG00000188993	ENST00000343457	T	0.33216	1.42	4.67	1.01	0.19927	.	0.968471	0.08482	N	0.939308	T	0.17066	0.0410	N	0.16656	0.425	0.09310	N	1	B	0.20550	0.046	B	0.13407	0.009	T	0.33163	-0.9879	10	0.18276	T	0.48	-0.8776	7.5126	0.27583	0.3337:0.0:0.6663:0.0	.	819	Q68CR7	LRC66_HUMAN	L	819	ENSP00000341944:P819L	ENSP00000341944:P819L	P	-	2	0	LRRC66	52555489	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.670000	0.25157	0.038000	0.15604	-1.556000	0.00890	CCG		0.463	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		15	40	0	0	0	1	0	15	40				
PLEKHN1	84069	broad.mit.edu	37	1	909722	909722	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:909722C>T	ENST00000379409.2	+	14	1866	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PLEKHN1_ENST00000379407.3_Silent_p.P525P|PLEKHN1_ENST00000379410.3_Silent_p.P560P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	612				P -> S (in Ref. 4; AAI01388). {ECO:0000305}.						central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AAGGTTCGCCCGAACCCTGGC	0.627																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1834-1836)ccC>ccT		pleckstrin homology domain containing, family N member 1							74.0	83.0	80.0					1																	909722		2203	4300	6503	SO:0001819	synonymous_variant	84069							g.chr1:909722C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1836C>T	1.37:g.909722C>T						PLEKHN1_ENST00000379407.2_Silent_p.P525P|PLEKHN1_ENST00000379410.3_Silent_p.P560P	p.P612P			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	14	1866	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	612	P -> S (in Ref. 4; AAI01388).				Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1836C>T																																																																																					0.627	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		20	109	0	0	0	1	0	20	109				
YARS2	51067	broad.mit.edu	37	12	32902905	32902905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32902905G>A	ENST00000324868.8	-	4	1267	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	414					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTTGCTTTGCGGCAAGTATCT	0.388																																						ENST00000324868.8																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1240-1242)Cgc>Tgc		tyrosyl-tRNA synthetase 2, mitochondrial	L-Tyrosine(DB00135)						94.0	98.0	97.0					12																	32902905		2203	4300	6503	SO:0001583	missense	51067				tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity	g.chr12:32902905G>A	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.1240C>T	12.37:g.32902905G>A	ENSP00000320658:p.Arg414Cys					YARS2_ENST00000551673.1_5'UTR	p.R414C	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN			4	1267	-	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		414					D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	c.1240C>T	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703863	0.48412	.	.	ENSG00000139131	ENST00000324868	T	0.72835	-0.69	5.47	5.47	0.80525	RNA-binding S4 (1);	0.124573	0.52532	D	0.000067	T	0.70254	0.3203	M	0.64997	1.995	0.80722	D	1	B	0.26081	0.141	B	0.15052	0.012	T	0.69179	-0.5213	10	0.72032	D	0.01	-8.233	19.6946	0.96021	0.0:0.0:1.0:0.0	.	414	Q9Y2Z4	SYYM_HUMAN	C	414	ENSP00000320658:R414C	ENSP00000320658:R414C	R	-	1	0	YARS2	32794172	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.185000	0.58330	2.734000	0.93682	0.585000	0.79938	CGC		0.388	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404153.1	NM_015936		32	85	0	0	0	1	0	32	85				
ADAM19	8728	broad.mit.edu	37	5	156957868	156957868	+	Silent	SNP	C	C	T	rs141005435	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156957868C>T	ENST00000517905.1	-	5	398	c.354G>A	c.(352-354)acG>acA	p.T118T	ADAM19_ENST00000257527.4_Silent_p.T118T|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.T120T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	118					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCTCACCGTGCCGTGGT	0.537																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(352-354)acG>acA		ADAM metallopeptidase domain 19		C		2,4404	4.2+/-10.8	0,2,2201	121.0	96.0	104.0		354	-2.1	0.1	5	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous	ADAM19	NM_033274.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		118/919	156957868	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156957868C>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.354G>A	5.37:g.156957868C>T						ADAM19_ENST00000394020.1_Silent_p.T120T|ADAM19_ENST00000517905.1_Silent_p.T118T|ADAM19_ENST00000430702.2_5'UTR	p.T118T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	432	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	118					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.354G>A																																																																																					0.537	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		12	55	0	0	0	1	0	12	55				
PLK3	1263	broad.mit.edu	37	1	45270998	45270998	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45270998T>C	ENST00000372201.4	+	14	1935	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	566					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCTGCAGTGGGTCAAGAC	0.597																																						ENST00000372201.4																			0				endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1696-1698)Tgg>Cgg		polo-like kinase 3							183.0	143.0	156.0					1																	45270998		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45270998T>C	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1696T>C	1.37:g.45270998T>C	ENSP00000361275:p.Trp566Arg					PLK3_ENST00000465443.1_3'UTR	p.W566R	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			14	1935	+	Acute lymphoblastic leukemia(166;0.155)		566					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1696T>C	CCDS515.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308998	0.81247	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.65178	-0.14	5.83	5.83	0.93111	.	.	.	.	.	D	0.82403	0.5029	M	0.90019	3.08	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.86244	0.1645	9	0.87932	D	0	-11.2967	15.3748	0.74596	0.0:0.0:0.0:1.0	.	566	Q9H4B4	PLK3_HUMAN	R	566;541	ENSP00000361275:W566R	ENSP00000361275:W566R	W	+	1	0	PLK3	45043585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.239000	0.58694	2.220000	0.72140	0.533000	0.62120	TGG		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		21	69	0	0	0	1	0	21	69				
MIEF1	54471	broad.mit.edu	37	22	39909961	39909961	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39909961G>A	ENST00000325301.2	+	6	1449	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	MIEF1_ENST00000402881.1_Missense_Mutation_p.R342H|MIEF1_ENST00000404569.1_Missense_Mutation_p.R342H	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	342					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										CTGAGCCTGCGTCCCGCGGAG	0.622											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1024-1026)cGt>cAt									57.0	56.0	56.0					22																	39909961		2203	4300	6503	SO:0001583	missense	0					integral to membrane|mitochondrion		g.chr22:39909961G>A	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1025G>A	22.37:g.39909961G>A	ENSP00000327124:p.Arg342His		OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000402881.1_Missense_Mutation_p.R342H|SMCR7L_ENST00000404569.1_Missense_Mutation_p.R342H	p.R342H	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1449	+	Melanoma(58;0.04)		342					Q7L890|Q9BUI3	Missense_Mutation	SNP	ENST00000325301.2	37	c.1025G>A	CCDS13995.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245340	0.59103	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.07908	3.15;3.15;3.15	6.07	6.07	0.98685	.	0.043313	0.85682	N	0.000000	T	0.26593	0.0650	L	0.57536	1.79	0.80722	D	1	P;D	0.89917	0.593;1.0	B;D	0.91635	0.134;0.999	T	0.00819	-1.1553	10	0.16896	T	0.51	-10.7433	20.6439	0.99570	0.0:0.0:1.0:0.0	.	342;342	Q9NQG6;B0QY95	MID51_HUMAN;.	H	342	ENSP00000385110:R342H;ENSP00000327124:R342H;ENSP00000385191:R342H	ENSP00000327124:R342H	R	+	2	0	SMCR7L	38239907	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.887000	0.87295	2.884000	0.98904	0.655000	0.94253	CGT		0.622	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		37	79	0	0	0	1	0	37	79				
DUSP6	1848	broad.mit.edu	37	12	89744489	89744489	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:89744489G>A	ENST00000279488.7	-	2	1945	c.714C>T	c.(712-714)aaC>aaT	p.N238N	DUSP6_ENST00000547291.1_Silent_p.N113N|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	238	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGGGTGACGTTCAAGATGT	0.493																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(712-714)aaC>aaT		dual specificity phosphatase 6							169.0	175.0	173.0					12																	89744489		2203	4300	6503	SO:0001819	synonymous_variant	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89744489G>A	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.714C>T	12.37:g.89744489G>A						DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Silent_p.N113N|DUSP6_ENST00000547140.1_5'UTR	p.N238N	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			2	1945	-			238			Tyrosine-protein phosphatase.		O75109|Q53Y75|Q9BSH6	Silent	SNP	ENST00000279488.7	37	c.714C>T	CCDS9033.1																																																																																				0.493	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		8	216	0	0	0	1	0	8	216				
FBXL7	23194	broad.mit.edu	37	5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(571-573)Gta>Ata		F-box and leucine-rich repeat protein 7							32.0	38.0	36.0					5																	15928442		2110	4235	6345	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928442G>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.571G>A	5.37:g.15928442G>A	ENSP00000423630:p.Val191Ile					FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I|FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I	p.V191I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	1052	+			191					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.571G>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919821	0.52653	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.51574	0.7;0.7;0.7	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.43152	1.355	0.80722	D	1	P	0.40834	0.73	B	0.28305	0.088	T	0.23904	-1.0175	10	0.24483	T	0.36	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	191	Q9UJT9	FBXL7_HUMAN	I	191;144;179	ENSP00000423630:V191I;ENSP00000425184:V144I;ENSP00000329632:V179I	ENSP00000329632:V179I	V	+	1	0	FBXL7	15981442	1.000000	0.71417	0.267000	0.24556	0.919000	0.55068	5.613000	0.67688	2.520000	0.84964	0.561000	0.74099	GTA		0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		11	34	0	0	0	1	0	11	34				
GRIP1	23426	broad.mit.edu	37	12	66990669	66990669	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:66990669G>A	ENST00000398016.3	-	2	162	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	GRIP1_ENST00000286445.7_Missense_Mutation_p.P32S|GRIP1_ENST00000359742.4_Missense_Mutation_p.P32S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCAGGCGGCTTTGTCTGG	0.448																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(94-96)Ccg>Tcg		glutamate receptor interacting protein 1							105.0	109.0	108.0					12																	66990669		1898	4117	6015	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66990669G>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.94C>T	12.37:g.66990669G>A	ENSP00000381098:p.Pro32Ser					GRIP1_ENST00000286445.7_Missense_Mutation_p.P32S|GRIP1_ENST00000398016.3_Missense_Mutation_p.P32S	p.P32S			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	2	334	-			32					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.94C>T	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766835	0.31320	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000541947	T;T;T;T;T	0.18502	2.24;2.21;2.21;2.24;2.48	5.83	5.83	0.93111	.	0.134588	0.48767	D	0.000177	T	0.14013	0.0339	L	0.29908	0.895	0.42212	D	0.991817	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.10042	-1.0647	9	.	.	.	-19.3222	15.6026	0.76636	0.0:0.0:1.0:0.0	.	32;32	F5H4N6;Q9Y3R0-3	.;.	S	32;32;32;32;58	ENSP00000381098:P32S;ENSP00000352780:P32S;ENSP00000286445:P32S;ENSP00000446047:P32S;ENSP00000438921:P58S	.	P	-	1	0	GRIP1	65276936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.006000	0.40874	2.749000	0.94314	0.650000	0.86243	CCG		0.448	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			4	77	0	0	0	1	0	4	77				
SNRNP200	23020	broad.mit.edu	37	2	96957583	96957583	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:96957583C>T	ENST00000323853.5	-	17	2293	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCACATGTCCCGGATGGCCCT	0.557																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2215-2217)cGg>cAg		small nuclear ribonucleoprotein 200kDa (U5)							65.0	61.0	62.0					2																	96957583		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96957583C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2216G>A	2.37:g.96957583C>T	ENSP00000317123:p.Arg739Gln					SNRNP200_ENST00000349783.5_Intron	p.R739Q	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			17	2293	-			739			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2216G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	36	5.963551	0.97151	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.76186	-1.0	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83931	0.5361	M	0.84585	2.705	0.80722	D	1	D	0.63046	0.992	P	0.50270	0.636	D	0.85982	0.1483	10	0.87932	D	0	-17.1617	19.6509	0.95805	0.0:1.0:0.0:0.0	.	739	O75643	U520_HUMAN	Q	739;414	ENSP00000317123:R739Q	ENSP00000317123:R739Q	R	-	2	0	SNRNP200	96321310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.762000	0.85270	2.941000	0.99782	0.655000	0.94253	CGG		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		12	43	0	0	0	1	0	12	43				
SCN10A	6336	broad.mit.edu	37	3	38755531	38755531	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:38755531G>T	ENST00000449082.2	-	21	3721	c.3722C>A	c.(3721-3723)tCt>tAt	p.S1241Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1241					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGCCACTTCAGAATATTCCAG	0.512																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3721-3723)tCt>tAt		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						118.0	116.0	117.0					3																	38755531		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755531G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3722C>A	3.37:g.38755531G>T	ENSP00000390600:p.Ser1241Tyr						p.S1241Y	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3721	-			1241					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3722C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769318	0.49680	.	.	ENSG00000185313	ENST00000449082	D	0.97710	-4.5	4.23	3.35	0.38373	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99029	0.9668	H	0.98612	4.28	0.36129	D	0.846022	D	0.89917	1.0	D	0.91635	0.999	D	0.99053	1.0828	10	0.87932	D	0	.	6.3187	0.21204	0.168:0.0:0.6821:0.15	.	1241	Q9Y5Y9	SCNAA_HUMAN	Y	1241	ENSP00000390600:S1241Y	ENSP00000390600:S1241Y	S	-	2	0	SCN10A	38730535	1.000000	0.71417	0.157000	0.22605	0.621000	0.37620	4.560000	0.60802	0.980000	0.38523	0.411000	0.27672	TCT		0.512	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		6	111	1	0	0.0215528	1	0.0217133	6	111				
TCEB3CL	728929	broad.mit.edu	37	18	44549167	44549167	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:44549167T>G	ENST00000451265.1	-	1	1367	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	378	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTTCTCTGTGCGGTACGGC	0.572																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1132-1134)Aca>Cca		transcription elongation factor B polypeptide 3C-like							210.0	179.0	189.0					18																	44549167		1692	3371	5063	SO:0001583	missense	728929							g.chr18:44549167T>G			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1132A>C	18.37:g.44549167T>G	ENSP00000409932:p.Thr378Pro					KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.T378P	NM_001100817.1	NP_001094287.1					1	1367	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1132A>C	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	T	7.766	0.706463	0.15239	.	.	ENSG00000234298	ENST00000451265	T	0.30448	1.53	1.5	-2.19	0.07015	.	1.252680	0.06332	N	0.706307	T	0.14830	0.0358	N	0.08118	0	0.09310	N	1	B	0.31241	0.315	B	0.29663	0.105	T	0.26780	-1.0093	10	0.72032	D	0.01	0.0126	5.9977	0.19503	0.0:0.5052:0.0:0.4948	.	378	Q3SY89	EA3L1_HUMAN	P	378	ENSP00000409932:T378P	ENSP00000409932:T378P	T	-	1	0	TCEB3CL	42803165	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	1.964000	0.40462	-0.596000	0.05821	-0.387000	0.06579	ACA		0.572	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		28	339	0	0	0	1	0	28	339				
FZR1	51343	broad.mit.edu	37	19	3532474	3532474	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3532474G>A	ENST00000395095.3	+	10	1068	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	FZR1_ENST00000441788.2_Silent_p.A356A|FZR1_ENST00000313639.8_Silent_p.A267A	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	356					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTGGCGGCCGTGAAGG	0.687																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1066-1068)gcG>gcA		fizzy/cell division cycle 20 related 1 (Drosophila)							25.0	28.0	27.0					19																	3532474		2198	4300	6498	SO:0001819	synonymous_variant	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3532474G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1068G>A	19.37:g.3532474G>A						FZR1_ENST00000395095.3_Silent_p.A356A|FZR1_ENST00000313639.8_Silent_p.A267A	p.A356A	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1304	+			356					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Silent	SNP	ENST00000395095.3	37	c.1068G>A	CCDS45916.1																																																																																				0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		13	27	0	0	0	1	0	13	27				
C20orf141	128653	broad.mit.edu	37	20	2796319	2796319	+	Silent	SNP	C	C	T	rs574582071		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:2796319C>T	ENST00000380589.4	+	2	570	c.396C>T	c.(394-396)gaC>gaT	p.D132D	C20orf141_ENST00000603872.1_Silent_p.D132D|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000380593.4_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	132	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCCTCCAGGACGCACTGCTGC	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18686	0.0		0.0	False		,,,				2504	0.001					ENST00000380589.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						c.(394-396)gaC>gaT		chromosome 20 open reading frame 141							70.0	67.0	68.0					20																	2796319		2203	4300	6503	SO:0001819	synonymous_variant	128653					integral to membrane		g.chr20:2796319C>T		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.396C>T	20.37:g.2796319C>T						TMEM239_ENST00000380593.4_Intron|TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Silent_p.D132D	p.D132D	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN			2	570	+			132			Leu-rich.			Silent	SNP	ENST00000380589.4	37	c.396C>T	CCDS13034.1																																																																																				0.632	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		22	56	0	0	0	1	0	22	56				
GAK	2580	broad.mit.edu	37	4	876523	876523	+	Missense_Mutation	SNP	G	G	A	rs527823947		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:876523G>A	ENST00000314167.4	-	14	1599	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	GAK_ENST00000511163.1_Missense_Mutation_p.R418W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	497	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGTCCTGCCGCAGCCAGGCG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16569	0.0		0.0	False		,,,				2504	0.001					ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.(1489-1491)Cgg>Tgg		cyclin G associated kinase							95.0	78.0	84.0					4																	876523		2203	4300	6503	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:876523G>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1489C>T	4.37:g.876523G>A	ENSP00000314499:p.Arg497Trp					GAK_ENST00000511163.1_Missense_Mutation_p.R418W	p.R497W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	14	1599	-			497			Phosphatase tensin-type.		Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.1489C>T	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278311	0.59758	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	D;D	0.98617	-5.03;-5.03	5.2	0.838	0.18902	Phosphatase tensin type (1);	0.121633	0.53938	D	0.000047	D	0.98229	0.9414	L	0.47190	1.495	0.37724	D	0.925036	D;D;D;D	0.76494	0.999;0.997;0.997;0.998	D;P;P;P	0.63793	0.918;0.849;0.834;0.834	D	0.98055	1.0390	10	0.72032	D	0.01	-30.7578	14.3226	0.66496	0.0:0.0:0.2093:0.7907	.	418;418;497;393	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	W	497;418	ENSP00000314499:R497W;ENSP00000421361:R418W	ENSP00000314499:R497W	R	-	1	2	GAK	866523	1.000000	0.71417	0.847000	0.33407	0.467000	0.32768	3.720000	0.54933	-0.042000	0.13535	-0.169000	0.13324	CGG		0.612	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		8	90	0	0	0	1	0	8	90				
ITGB4	3691	broad.mit.edu	37	17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73750675G>A	ENST00000200181.3	+	34	4524	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	ITGB4_ENST00000579662.1_Missense_Mutation_p.R1376Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1376Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1376Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1376Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1446					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAATGGCCGGATGGACTTT	0.677																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4336-4338)cGg>cAg		integrin, beta 4							89.0	74.0	79.0					17																	73750675		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73750675G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4337G>A	17.37:g.73750675G>A	ENSP00000200181:p.Arg1446Gln					ITGB4_ENST00000450894.3_Missense_Mutation_p.R1376Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1376Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1376Q|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1376Q	p.R1446Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		34	4524	+	all_cancers(13;1.5e-07)		1446					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4337G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017484	0.54576	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.78481	-1.18;-1.17;-1.17	4.73	4.73	0.59995	.	0.070288	0.56097	D	0.000023	T	0.81394	0.4813	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.995	P;D;P	0.64776	0.825;0.929;0.719	T	0.83336	-0.0010	10	0.62326	D	0.03	.	16.0644	0.80861	0.0:0.0:1.0:0.0	.	1376;1376;1446	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Q	1446;1376;1376	ENSP00000200181:R1446Q;ENSP00000344079:R1376Q;ENSP00000400217:R1376Q	ENSP00000200181:R1446Q	R	+	2	0	ITGB4	71262270	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.610000	0.67668	2.448000	0.82819	0.462000	0.41574	CGG		0.677	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	86	0	0	0	1	0	4	86				
KBTBD7	84078	broad.mit.edu	37	13	41767598	41767598	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:41767598G>A	ENST00000379483.3	-	1	1104	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGCATCCAGCGCACGCACTTG	0.552																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(796-798)Cgc>Tgc		kelch repeat and BTB (POZ) domain containing 7							57.0	59.0	58.0					13																	41767598		2203	4298	6501	SO:0001583	missense	84078						protein binding	g.chr13:41767598G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.796C>T	13.37:g.41767598G>A	ENSP00000368797:p.Arg266Cys						p.R266C	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1104	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	266					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.796C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317324	0.60524	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.81163	-1.46	4.98	4.98	0.66077	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92052	0.5649	10	0.87932	D	0	.	15.7543	0.78013	0.0:0.0:1.0:0.0	.	266	Q8WVZ9	KBTB7_HUMAN	C	266;168	ENSP00000368797:R266C	ENSP00000368797:R266C	R	-	1	0	KBTBD7	40665598	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.046000	0.76592	2.287000	0.76781	0.557000	0.71058	CGC		0.552	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		10	95	0	0	0	1	0	10	95				
CASC3	22794	broad.mit.edu	37	17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	rs139973585		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1012-1014)cGg>cAg		cancer susceptibility candidate 3		G	GLN/ARG	0,4406		0,0,2203	205.0	196.0	199.0		1013	4.8	1.0	17	dbSNP_134	199	2,8598	2.2+/-6.3	0,2,4298	no	missense	CASC3	NM_007359.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	338/704	38319961	2,13004	2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38319961G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1013G>A	17.37:g.38319961G>A	ENSP00000264645:p.Arg338Gln						p.R338Q	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1239	+			338					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1013G>A	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460726	0.84317	0.0	2.33E-4	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.74	4.76	0.60689	.	0.368102	0.27159	N	0.020656	T	0.21145	0.0509	N	0.19112	0.55	0.30776	N	0.742493	P;P	0.52692	0.955;0.817	B;B	0.38194	0.267;0.143	T	0.11616	-1.0580	9	0.40728	T	0.16	-15.3922	10.9762	0.47467	0.1447:0.0:0.8553:0.0	.	338;338	B4DKR6;O15234	.;CASC3_HUMAN	Q	338	.	ENSP00000264645:R338Q	R	+	2	0	CASC3	35573487	0.917000	0.31117	1.000000	0.80357	0.982000	0.71751	4.458000	0.60095	2.717000	0.92951	0.655000	0.94253	CGG		0.552	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		13	267	0	0	0	1	0	13	267				
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:41313799C>A	ENST00000377801.3	-	3	960	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(886-888)Gat>Tat		phosphatidylinositol-specific phospholipase C, X domain containing 3							120.0	106.0	111.0					5																	41313799		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313799C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.886G>T	5.37:g.41313799C>A	ENSP00000367032:p.Asp296Tyr					PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296Y	p.D296Y			Q63HM9	PLCX3_HUMAN			3	960	-			296					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.886G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579647	0.86645	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80957	-0.1150	9	0.87932	D	0	-16.4033	19.7362	0.96205	0.0:1.0:0.0:0.0	.	296	Q63HM9	PLCX3_HUMAN	Y	296	.	ENSP00000333751:D296Y	D	-	1	0	PLCXD3	41349556	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.427000	0.80284	2.678000	0.91216	0.655000	0.94253	GAT		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		16	41	1	0	5.01169e-05	1	5.13023e-05	16	41				
TTN	7273	broad.mit.edu	37	2	179401235	179401235	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179401235C>A	ENST00000591111.1	-	307	95540	c.95316G>T	c.(95314-95316)tgG>tgT	p.W31772C	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24473C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30845C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24540C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W33413C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24348C|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31772	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGGCTTCCAGGCCACAA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(100237-100239)tgG>tgT		titin							65.0	65.0	65.0					2																	179401235		1839	4101	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401235C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95316G>T	2.37:g.179401235C>A	ENSP00000465570:p.Trp31772Cys					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24473C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24540C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30845C|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24348C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31772C|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA	p.W33413C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		357	100463	-			31772					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.100239G>T		.	.	.	.	.	.	.	.	.	.	C	16.83	3.230638	0.58777	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96620	0.8897	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97777	1.0230	9	0.87932	D	0	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	24348;24473;24540;31772	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30845;24348;24540;24473;24345	ENSP00000343764:W30845C;ENSP00000434586:W24348C;ENSP00000340554:W24540C;ENSP00000352154:W24473C	ENSP00000340554:W24540C	W	-	3	0	TTN	179109481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.706000	0.92434	0.563000	0.77884	TGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	74	1	0	8.12818e-05	1	8.30472e-05	5	74				
BRD4	23476	broad.mit.edu	37	19	15366907	15366907	+	Silent	SNP	C	C	T	rs142701429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366907C>T	ENST00000263377.2	-	9	1940	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	BRD4_ENST00000371835.4_Silent_p.T573T|BRD4_ENST00000360016.5_Silent_p.T573T|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	573	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tatttttcttcgtctttttag	0.443			T	C15orf55	lethal midline carcinoma of young people								C|||	4	0.000798722	0.0	0.0	5008	,	,		21385	0.0		0.0	False		,,,				2504	0.0041					ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1717-1719)acG>acA		bromodomain containing 4		C	,	0,4406		0,0,2203	269.0	240.0	250.0		1719,1719	-8.6	0.9	19	dbSNP_134	250	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	BRD4	NM_014299.2,NM_058243.2	,	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	,	573/723,573/1363	15366907	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366907C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1719G>A	19.37:g.15366907C>T						BRD4_ENST00000371835.4_Silent_p.T573T|BRD4_ENST00000360016.5_Silent_p.T573T	p.T573T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		9	1940	-			573			Lys-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.1719G>A	CCDS12328.1																																																																																				0.443	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		4	39	0	0	0	1	0	4	39				
SRI	6717	broad.mit.edu	37	7	87838684	87838684	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87838684C>T	ENST00000265729.2	-	6	533	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SRI_ENST00000431660.1_Missense_Mutation_p.A146T|SRI_ENST00000490437.1_Missense_Mutation_p.A118T|SRI_ENST00000394641.3_Missense_Mutation_p.A146T|SRI_ENST00000419179.1_Missense_Mutation_p.A121T	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	161	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ACGCAGCAGGCGATGTAGTCG	0.443																																						ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(481-483)Gcc>Acc		sorcin							175.0	145.0	155.0					7																	87838684		2203	4300	6503	SO:0001583	missense	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87838684C>T	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.481G>A	7.37:g.87838684C>T	ENSP00000265729:p.Ala161Thr					SRI_ENST00000431660.1_Missense_Mutation_p.A146T|SRI_ENST00000419179.1_Missense_Mutation_p.A121T|SRI_ENST00000394641.3_Missense_Mutation_p.A146T|SRI_ENST00000490437.1_Missense_Mutation_p.A118T	p.A161T	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			6	533	-	Esophageal squamous(14;0.00202)		161			EF-hand 4.		A8MTH6|B4DKK2|D6W5Q0	Missense_Mutation	SNP	ENST00000265729.2	37	c.481G>A	CCDS5612.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747919	0.69533	.	.	ENSG00000075142	ENST00000265729;ENST00000419179;ENST00000490437;ENST00000394641;ENST00000431660	T;T;T;T;T	0.71341	-0.56;0.92;-0.56;-0.56;-0.56	5.87	5.87	0.94306	EF-hand-like domain (1);	0.058037	0.64402	D	0.000002	T	0.67552	0.2905	L	0.49640	1.575	0.45930	D	0.998761	P;B;P;P;P	0.50819	0.939;0.343;0.782;0.939;0.939	P;B;B;P;P	0.44696	0.458;0.052;0.364;0.458;0.458	T	0.67019	-0.5776	10	0.36615	T	0.2	.	13.4017	0.60887	0.0:0.9281:0.0:0.0719	.	146;121;118;146;161	B4DKK2;B4DHQ6;C9J0K6;A8MTH6;P30626	.;.;.;.;SORCN_HUMAN	T	161;121;118;146;146	ENSP00000265729:A161T;ENSP00000397609:A121T;ENSP00000418512:A118T;ENSP00000378137:A146T;ENSP00000391148:A146T	ENSP00000265729:A161T	A	-	1	0	SRI	87676620	0.995000	0.38212	0.997000	0.53966	0.992000	0.81027	3.098000	0.50259	2.774000	0.95407	0.655000	0.94253	GCC		0.443	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		11	40	0	0	0	1	0	11	40				
KIAA0513	9764	broad.mit.edu	37	16	85101007	85101007	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:85101007G>T	ENST00000566428.1	+	2	960		c.e2+1		KIAA0513_ENST00000258180.3_Splice_Site|KIAA0513_ENST00000538274.1_Splice_Site|KIAA0513_ENST00000567328.1_Splice_Site			O60268	K0513_HUMAN	KIAA0513							cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TCTCTGGAGGGTAAGGGGCCT	0.632																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.e2+1		KIAA0513							41.0	32.0	35.0					16																	85101007		2194	4287	6481	SO:0001630	splice_region_variant	9764					cytoplasm		g.chr16:85101007G>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.329+1G>T	16.37:g.85101007G>T						KIAA0513_ENST00000538274.1_Splice_Site|KIAA0513_ENST00000567328.1_Splice_Site|KIAA0513_ENST00000258180.3_Splice_Site				O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	960	+								B4DSS5|D3DUM2|Q8N6G0	Splice_Site	SNP	ENST00000566428.1	37		CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909496	0.72868	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5569	0.84487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0513	83658508	1.000000	0.71417	0.997000	0.53966	0.902000	0.53008	8.731000	0.91529	2.304000	0.77564	0.655000	0.94253	.		0.632	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732	Intron	14	41	1	0	2.61681e-11	1	2.72249e-11	14	41				
ZC3H18	124245	broad.mit.edu	37	16	88689746	88689746	+	Missense_Mutation	SNP	G	G	A	rs576458945		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88689746G>A	ENST00000301011.5	+	10	1987	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	596	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R596L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGGAAGCCGGTCCAGGTAT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17039	0.0		0.0	False		,,,				2504	0.001				Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			1	Substitution - Missense(1)	p.R596L(1)	lung(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1786-1788)cGg>cAg		zinc finger CCCH-type containing 18							50.0	50.0	50.0					16																	88689746		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88689746G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1787G>A	16.37:g.88689746G>A	ENSP00000301011:p.Arg596Gln					ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620Q	p.R596Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	10	1987	+			596			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1787G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502821	0.64298	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.54279	0.58;0.58	5.7	2.63	0.31362	.	0.162999	0.52532	N	0.000065	T	0.49779	0.1577	M	0.65498	2.005	0.45477	D	0.998446	B;B	0.18968	0.032;0.032	B;B	0.16722	0.016;0.016	T	0.49153	-0.8969	10	0.72032	D	0.01	-9.4706	11.1016	0.48177	0.1895:0.0:0.8105:0.0	.	620;596	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Q	596;564;620	ENSP00000301011:R596Q;ENSP00000416951:R620Q	ENSP00000289509:R564Q	R	+	2	0	ZC3H18	87217247	1.000000	0.71417	0.885000	0.34714	0.946000	0.59487	2.728000	0.47319	0.328000	0.23435	0.561000	0.74099	CGG		0.627	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		14	17	0	0	0	1	0	14	17				
NCKIPSD	51517	broad.mit.edu	37	3	48719968	48719968	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48719968C>T	ENST00000294129.2	-	3	418	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R100Q|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R100Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	100					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTCTTTCCGGTGGTGGAT	0.567																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(298-300)cGg>cAg		NCK interacting protein with SH3 domain							83.0	86.0	85.0					3																	48719968		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48719968C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.299G>A	3.37:g.48719968C>T	ENSP00000294129:p.Arg100Gln					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R100Q|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R100Q	p.R100Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	418	-			100					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.299G>A	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100331	0.94245	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349	T;T;T;T	0.61742	0.08;0.71;0.66;0.67	4.63	4.63	0.57726	.	0.000000	0.64402	U	0.000004	T	0.74168	0.3681	M	0.66939	2.045	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.988;0.995	T	0.75803	-0.3189	10	0.46703	T	0.11	.	17.4718	0.87648	0.0:1.0:0.0:0.0	.	100;100;100	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	Q	100;100;100;100;22	ENSP00000342621:R100Q;ENSP00000389059:R100Q;ENSP00000294129:R100Q;ENSP00000409675:R100Q	ENSP00000294129:R100Q	R	-	2	0	NCKIPSD	48694972	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.678000	0.68153	2.113000	0.64589	0.591000	0.81541	CGG		0.567	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		35	89	0	0	0	1	0	35	89				
DLL3	10683	broad.mit.edu	37	19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T	rs368487646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39994903C>T	ENST00000205143.4	+	5	852	c.845C>T	c.(844-846)cCg>cTg	p.P282L	DLL3_ENST00000356433.5_Missense_Mutation_p.P282L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	282	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACGGGAACCCGTGTGCCAAT	0.647																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(844-846)cCg>cTg		delta-like 3 (Drosophila)		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	84.0	71.0	75.0		845,845	4.3	1.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DLL3	NM_016941.3,NM_203486.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	282/619,282/588	39994903	1,13005	2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39994903C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.845C>T	19.37:g.39994903C>T	ENSP00000205143:p.Pro282Leu					DLL3_ENST00000356433.5_Missense_Mutation_p.P282L	p.P282L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	852	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		282			EGF-like 2.		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.845C>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011082	0.54361	0.0	1.16E-4	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.96104	-3.91;-3.91	5.4	4.29	0.51040	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47093	D	0.000249	D	0.96999	0.9020	M	0.90483	3.12	0.80722	D	1	D;D;P	0.61697	0.99;0.977;0.87	P;P;B	0.56960	0.81;0.561;0.442	D	0.96596	0.9441	9	.	.	.	.	9.0173	0.36177	0.0:0.7658:0.152:0.0822	.	282;282;282	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	L	282	ENSP00000348810:P282L;ENSP00000205143:P282L	.	P	+	2	0	DLL3	44686743	1.000000	0.71417	0.961000	0.40146	0.133000	0.20885	6.641000	0.74324	2.698000	0.92095	0.561000	0.74099	CCG		0.647	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			8	44	0	0	0	1	0	8	44				
ZNF665	79788	broad.mit.edu	37	19	53678733	53678733	+	Intron	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53678733A>G	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.V36A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCCAACATGACGTCCCTGTA	0.458																																						ENST00000396424.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(106-108)gTc>gCc		zinc finger protein 665							136.0	141.0	140.0					19																	53678733		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678733A>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9133T>C	19.37:g.53678733A>G						ZNF665_ENST00000600412.1_Intron	p.V36A	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	196	-			0					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.107T>C		.	.	.	.	.	.	.	.	.	.	A	11.75	1.731280	0.30684	.	.	ENSG00000197497	ENST00000396424	T	0.03951	3.75	2.67	2.67	0.31697	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.23287	N	0.997976	P	0.50528	0.936	P	0.50405	0.64	T	0.15867	-1.0422	8	0.87932	D	0	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	36	Q9H7R5-2	.	A	36	ENSP00000379702:V36A	ENSP00000379702:V36A	V	-	2	0	ZNF665	58370545	0.947000	0.32204	0.300000	0.25030	0.013000	0.08279	1.728000	0.38105	1.214000	0.43395	0.533000	0.62120	GTC		0.458	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		4	140	0	0	0	1	0	4	140				
SSPO	23145	broad.mit.edu	37	7	149485020	149485020	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149485020C>T	ENST00000378016.2	+	0	3775							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCGGCATGGGCACCA	0.637																																						ENST00000378016.2																			0													SCO-spondin							13.0	18.0	16.0					7																	149485020		2062	4192	6254			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485020C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485020C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	3775	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	7	0	0	0	1	0	4	7				
USP30	84749	broad.mit.edu	37	12	109522826	109522826	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:109522826C>T	ENST00000257548.5	+	12	1330	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	USP30_ENST00000392784.2_Missense_Mutation_p.P382S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	413	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCTTTATTGCCAACGCTGTC	0.522																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1237-1239)Cca>Tca		ubiquitin specific peptidase 30							181.0	198.0	192.0					12																	109522826		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109522826C>T	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1237C>T	12.37:g.109522826C>T	ENSP00000257548:p.Pro413Ser					USP30_ENST00000392784.2_Missense_Mutation_p.P382S	p.P413S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			12	1330	+			413					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.1237C>T	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538680	0.27475	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73047	-0.71;-0.71	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.336641	0.35772	N	0.003000	T	0.66858	0.2832	N	0.05441	-0.05	0.44316	D	0.997195	B;D	0.89917	0.011;1.0	B;D	0.87578	0.012;0.998	T	0.62402	-0.6862	10	0.09084	T	0.74	-21.4459	14.8977	0.70656	0.0:1.0:0.0:0.0	.	413;382	Q70CQ3;B3KUS5	UBP30_HUMAN;.	S	382;413	ENSP00000376535:P382S;ENSP00000257548:P413S	ENSP00000257548:P413S	P	+	1	0	USP30	108007209	0.996000	0.38824	0.738000	0.30950	0.090000	0.18270	1.868000	0.39509	2.575000	0.86900	0.650000	0.86243	CCA		0.522	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		16	360	0	0	0	1	0	16	360				
AJUBA	84962	broad.mit.edu	37	14	23444255	23444255	+	Missense_Mutation	SNP	T	T	C	rs200247985		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23444255T>C	ENST00000262713.2	-	5	1673	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	AJUBA_ENST00000361265.4_Missense_Mutation_p.N433S|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000397388.3_Missense_Mutation_p.N16S	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	433	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)										CAGGCACTTGTTGCAAACAAT	0.522													T|||	1	0.000199681	0.0	0.0	5008	,	,		22356	0.0		0.001	False		,,,				2504	0.0					ENST00000262713.2																			0											c.(1297-1299)aAc>aGc		ajuba LIM protein							149.0	137.0	141.0					14																	23444255		2203	4300	6503	SO:0001583	missense	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.chr14:23444255T>C	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.1298A>G	14.37:g.23444255T>C	ENSP00000262713:p.Asn433Ser					RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.N433S|AJUBA_ENST00000397388.3_Missense_Mutation_p.N16S	p.N433S	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN			5	1673	-			433			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1298A>G	CCDS9581.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	13.78	2.339950	0.41398	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.87491	-2.26;-2.19;-2.26;-2.19;-2.19;-2.2	5.91	5.91	0.95273	Zinc finger, LIM-type (4);	0.133966	0.52532	D	0.000068	D	0.82669	0.5087	L	0.37750	1.13	0.41474	D	0.988127	B	0.18013	0.025	B	0.28385	0.089	T	0.77651	-0.2508	10	0.25751	T	0.34	.	14.3004	0.66346	0.0:0.0:0.0:1.0	.	433	Q96IF1	JUB_HUMAN	S	433;16;433;16;16;16	ENSP00000262713:N433S;ENSP00000380543:N16S;ENSP00000354491:N433S;ENSP00000452369:N16S;ENSP00000451649:N16S;ENSP00000452325:N16S	ENSP00000262713:N433S	N	-	2	0	JUB	22514095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.556000	0.60775	2.254000	0.74563	0.533000	0.62120	AAC		0.522	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			20	80	0	0	0	1	0	20	80				
HGFAC	3083	broad.mit.edu	37	4	3449905	3449905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:3449905G>A	ENST00000382774.3	+	13	1802	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	HGFAC_ENST00000511533.1_Missense_Mutation_p.A570T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	563	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCCCTGGTCGCCGACCACAA	0.657																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1687-1689)Gcc>Acc		HGF activator							28.0	25.0	26.0					4																	3449905		2194	4295	6489	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449905G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1687G>A	4.37:g.3449905G>A	ENSP00000372224:p.Ala563Thr					HGFAC_ENST00000511533.1_Missense_Mutation_p.A570T	p.A563T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	13	1802	+			563			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1687G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022261	0.75275	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.92595	-3.07;-3.07	4.54	3.64	0.41730	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136660	0.49305	D	0.000141	D	0.89238	0.6658	N	0.17474	0.49	0.33165	D	0.547442	D;P	0.63046	0.992;0.559	P;B	0.55055	0.767;0.154	D	0.91242	0.5022	10	0.48119	T	0.1	.	12.4697	0.55779	0.0:0.2945:0.7055:0.0	.	570;563	D6RAR4;Q04756	.;HGFA_HUMAN	T	563;570	ENSP00000372224:A563T;ENSP00000421801:A570T	ENSP00000372224:A563T	A	+	1	0	HGFAC	3419703	0.002000	0.14202	0.274000	0.24659	0.746000	0.42486	0.277000	0.18734	2.085000	0.62840	0.563000	0.77884	GCC		0.657	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			8	8	0	0	0	1	0	8	8				
PLA2G4D	283748	broad.mit.edu	37	15	42363730	42363730	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:42363730G>A	ENST00000290472.3	-	16	1687	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	531	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTTCAGGGAGAAAATGTTGC	0.567																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1591-1593)ttC>ttT		phospholipase A2, group IVD (cytosolic)							83.0	73.0	76.0					15																	42363730		2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42363730G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1593C>T	15.37:g.42363730G>A							p.F531F	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	16	1687	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	531			PLA2c.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.1593C>T	CCDS32203.1																																																																																				0.567	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		20	41	0	0	0	1	0	20	41				
ASPSCR1	79058	broad.mit.edu	37	17	79954527	79954527	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79954527G>A	ENST00000306739.4	+	7	835	c.738G>A	c.(736-738)tcG>tcA	p.S246S	ASPSCR1_ENST00000306729.7_Silent_p.S246S|ASPSCR1_ENST00000580534.1_Silent_p.S169S	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	246					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTCCTTTCTCGGGTGGGGGAC	0.662			T	TFE3	alveolar soft part sarcoma																																	ENST00000306729.7				Dom	yes		17	17q25	79058	T	"""alveolar soft part sarcoma chromosome region, candidate 1"""			M	TFE3		alveolar soft part sarcoma	ASPSCR1/TFE3(167)	0				breast(2)|large_intestine(2)	4						c.(736-738)tcG>tcA		alveolar soft part sarcoma chromosome region, candidate 1							27.0	34.0	31.0					17																	79954527		2203	4298	6501	SO:0001819	synonymous_variant	79058						protein binding	g.chr17:79954527G>A	AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.738G>A	17.37:g.79954527G>A						ASPSCR1_ENST00000580534.1_Silent_p.S169S|ASPSCR1_ENST00000306739.4_Silent_p.S246S	p.S246S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		7	835	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		246					A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	ENST00000306739.4	37	c.738G>A	CCDS11796.1																																																																																				0.662	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083		16	40	0	0	0	1	0	16	40				
RIC1	57589	broad.mit.edu	37	9	5763494	5763494	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:5763494A>G	ENST00000414202.2	+	19	2658	c.2467A>G	c.(2467-2469)Acc>Gcc	p.T823A	KIAA1432_ENST00000381532.2_Missense_Mutation_p.T744A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.T707A|KIAA1432_ENST00000418622.3_Missense_Mutation_p.T744A|KIAA1432_ENST00000251879.6_Missense_Mutation_p.T823A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGTGGAGAGAACCTCTCAGAT	0.478																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2467-2469)Acc>Gcc		KIAA1432							127.0	116.0	120.0					9																	5763494		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763494A>G																												ENST00000414202.2:c.2467A>G	9.37:g.5763494A>G	ENSP00000416696:p.Thr823Ala					KIAA1432_ENST00000251879.6_Missense_Mutation_p.T823A|KIAA1432_ENST00000418622.3_Missense_Mutation_p.T744A|KIAA1432_ENST00000381532.2_Missense_Mutation_p.T744A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.T707A	p.T823A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2658	+		Acute lymphoblastic leukemia(23;0.154)	823						Missense_Mutation	SNP	ENST00000414202.2	37	c.2467A>G	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.69|19.69	3.874162|3.874162	0.72180|0.72180	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.78|5.78	4.65|4.65	0.58169|0.58169	.|Ribosome control protein 1 (1);	.|0.043982	.|0.85682	.|N	.|0.000000	T|T	0.69305|0.69305	0.3096|0.3096	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.997	T|T	0.65425|0.65425	-0.6171|-0.6171	5|9	.|0.18276	.|T	.|0.48	-10.5008|-10.5008	11.4976|11.4976	0.50417|0.50417	0.9302:0.0:0.0698:0.0|0.9302:0.0:0.0698:0.0	.|.	.|707;744;823;823	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	S|A	714|823;823;744;744;707	.|.	.|ENSP00000251879:T823A	N|T	+|+	2|1	0|0	KIAA1432|KIAA1432	5753494|5753494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.173000|7.173000	0.77612|0.77612	1.025000|1.025000	0.39708|0.39708	0.459000|0.459000	0.35465|0.35465	AAC|ACC		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			5	99	0	0	0	1	0	5	99				
FAM170A	340069	broad.mit.edu	37	5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:118969736G>A	ENST00000515256.1	+	3	465	c.293G>A	c.(292-294)cGc>cAc	p.R98H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483																																						ENST00000515256.1																			1	Substitution - Missense(1)	p.R98H(1)	large_intestine(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(292-294)cGc>cAc		family with sequence similarity 170, member A							101.0	106.0	105.0					5																	118969736		1935	4141	6076	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118969736G>A	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.293G>A	5.37:g.118969736G>A	ENSP00000422684:p.Arg98His						p.R98H			A1A519	F170A_HUMAN			3	465	+			98					Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.293G>A		.	.	.	.	.	.	.	.	.	.	G	8.758	0.922949	0.18056	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.29917	1.55;1.55	4.35	-2.1	0.07210	.	2.326850	0.01275	N	0.009541	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;D;D	0.57571	0.0;0.963;0.98	B;B;P	0.44597	0.001;0.36;0.454	T	0.03818	-1.1001	9	.	.	.	0.2677	1.5766	0.02626	0.236:0.4185:0.1677:0.1778	.	51;98;98	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	H	51;98;98	ENSP00000422684:R98H;ENSP00000423697:R98H	.	R	+	2	0	FAM170A	118997635	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.938000	0.01546	-0.453000	0.07076	-0.826000	0.03091	CGC		0.483	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		23	66	0	0	0	1	0	23	66				
CC2D1A	54862	broad.mit.edu	37	19	14024105	14024105	+	Missense_Mutation	SNP	G	G	A	rs559696209		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14024105G>A	ENST00000318003.7	+	5	744	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607													G|||	0	0.0	0.0	0.0	5008	,	,		17893	0.0		0.0	False		,,,				2504	0.0					ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(502-504)cGg>cAg		coiled-coil and C2 domain containing 1A							25.0	30.0	29.0					19																	14024105		1966	4145	6111	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024105G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.503G>A	19.37:g.14024105G>A	ENSP00000313601:p.Arg168Gln					CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168Q	p.R168Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	744	+			168					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.503G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314454	0.81358	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.27720	1.65	4.8	4.8	0.61643	Domain of unknown function DM14 (1);	0.065929	0.64402	D	0.000015	T	0.59918	0.2229	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66610	-0.5880	10	0.87932	D	0	-26.1853	16.7813	0.85563	0.0:0.0:1.0:0.0	.	168;168	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	Q	168;6;143	ENSP00000313601:R168Q	ENSP00000254346:R6Q	R	+	2	0	CC2D1A	13885105	1.000000	0.71417	0.996000	0.52242	0.239000	0.25481	7.883000	0.87264	2.494000	0.84150	0.561000	0.74099	CGG		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		15	55	0	0	0	1	0	15	55				
OR52D1	390066	broad.mit.edu	37	11	5510727	5510727	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:5510727C>T	ENST00000322641.5	+	1	813	c.791C>T	c.(790-792)aCc>aTc	p.T264I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	264					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTCCTCACCCACCGCTTT	0.507																																						ENST00000322641.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(790-792)aCc>aTc		olfactory receptor, family 52, subfamily D, member 1							169.0	148.0	156.0					11																	5510727		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510727C>T	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.791C>T	11.37:g.5510727C>T	ENSP00000326232:p.Thr264Ile					AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.T264I	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	813	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	264					B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.791C>T	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.791036	0.50102	.	.	ENSG00000181609	ENST00000322641	T	0.34859	1.34	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.084267	0.51477	D	0.000091	T	0.37785	0.1016	L	0.42686	1.345	0.09310	N	1	P	0.49696	0.927	P	0.50162	0.633	T	0.38866	-0.9641	10	0.72032	D	0.01	.	8.1556	0.31167	0.0:0.84:0.0:0.16	.	264	Q9H346	O52D1_HUMAN	I	264	ENSP00000326232:T264I	ENSP00000326232:T264I	T	+	2	0	OR52D1	5467303	0.000000	0.05858	0.983000	0.44433	0.912000	0.54170	-0.218000	0.09240	2.847000	0.97988	0.655000	0.94253	ACC		0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		36	71	0	0	0	1	0	36	71				
SYNE2	23224	broad.mit.edu	37	14	64496688	64496688	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:64496688A>G	ENST00000344113.4	+	44	7002	c.6790A>G	c.(6790-6792)Aca>Gca	p.T2264A	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2264A|SYNE2_ENST00000358025.3_Missense_Mutation_p.T2264A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2264					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTGAATACTACATTGGACAA	0.403																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6790-6792)Aca>Gca		spectrin repeat containing, nuclear envelope 2							83.0	80.0	81.0					14																	64496688		1829	4086	5915	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496688A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6790A>G	14.37:g.64496688A>G	ENSP00000341781:p.Thr2264Ala					SYNE2_ENST00000554584.1_Missense_Mutation_p.T2264A|SYNE2_ENST00000344113.4_Missense_Mutation_p.T2264A|SYNE2_ENST00000357395.3_5'UTR	p.T2264A	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	7020	+			2264					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6790A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	1.453	-0.564401	0.03939	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34275	1.37;1.37;1.37	5.24	-1.29	0.09288	.	0.486251	0.19305	N	0.117542	T	0.12603	0.0306	N	0.04880	-0.145	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.27365	-1.0076	10	0.12430	T	0.62	.	5.4919	0.16781	0.4559:0.0:0.408:0.1361	.	2264;2264	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	A	2264	ENSP00000350719:T2264A;ENSP00000341781:T2264A;ENSP00000452570:T2264A	ENSP00000261678:T2264A	T	+	1	0	SYNE2	63566441	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.248000	0.18198	-0.383000	0.07858	-0.250000	0.11733	ACA		0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		16	24	0	0	0	1	0	16	24				
RHPN2	85415	broad.mit.edu	37	19	33487111	33487111	+	Missense_Mutation	SNP	C	C	T	rs564794525	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:33487111C>T	ENST00000254260.3	-	11	1276	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RHPN2_ENST00000400226.4_Missense_Mutation_p.R263H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	414	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.			HLRRAMA -> TCADHG (in Ref. 2; AAK58588). {ECO:0000305}.	signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CATGGCTCTGCGCAAGTGGGA	0.607													C|||	10	0.00199681	0.0	0.0	5008	,	,		16807	0.0099		0.0	False		,,,				2504	0.0					ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1240-1242)cGc>cAc		rhophilin, Rho GTPase binding protein 2							45.0	43.0	44.0					19																	33487111		2203	4300	6503	SO:0001583	missense	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33487111C>T	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1241G>A	19.37:g.33487111C>T	ENSP00000254260:p.Arg414His					RHPN2_ENST00000400226.4_Missense_Mutation_p.R263H	p.R414H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			11	1276	-	Esophageal squamous(110;0.137)		414	HLRRAMA -> TCADHG (in Ref. 2; AAK58588).		BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	c.1241G>A	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684344	0.14907	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.19806	2.12;2.12	4.86	-1.38	0.09027	BRO1 domain (3);	0.492334	0.25929	N	0.027394	T	0.13798	0.0334	L	0.45470	1.425	0.24424	N	0.994604	B	0.18166	0.026	B	0.17098	0.017	T	0.13548	-1.0505	10	0.40728	T	0.16	-0.122	3.7656	0.08622	0.4409:0.3399:0.0:0.2192	.	414	Q8IUC4	RHPN2_HUMAN	H	414;144;263	ENSP00000254260:R414H;ENSP00000402244:R263H	ENSP00000254260:R414H	R	-	2	0	RHPN2	38178951	0.029000	0.19370	0.006000	0.13384	0.054000	0.15201	0.055000	0.14229	-0.470000	0.06901	0.585000	0.79938	CGC		0.607	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		19	48	0	0	0	1	0	19	48				
CCDC178	374864	broad.mit.edu	37	18	30554609	30554609	+	Nonsense_Mutation	SNP	G	G	A	rs376925410		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:30554609G>A	ENST00000383096.3	-	22	2607	c.2425C>T	c.(2425-2427)Cag>Tag	p.Q809*	CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000581852.1_Nonsense_Mutation_p.Q14*|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q759*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q129*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q771*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	809																	AAGTGCTCCTGCCACAGTGTG	0.498																																						ENST00000383096.3																			0											c.(2425-2427)Cag>Tag		coiled-coil domain containing 178		G	stop/GLN,stop/GLN	0,4406		0,0,2203	55.0	50.0	52.0		2425,2311	2.4	1.0	18		52	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	C18orf34	NM_001105528.1,NM_198995.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	809/868,771/830	30554609	1,13005	2203	4300	6503	SO:0001587	stop_gained	374864							g.chr18:30554609G>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2425C>T	18.37:g.30554609G>A	ENSP00000372576:p.Gln809*					CCDC178_ENST00000403303.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.Q809*|CCDC178_ENST00000583930.1_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.Q833*|CCDC178_ENST00000581852.1_Nonsense_Mutation_p.Q14*|CCDC178_ENST00000579916.1_Nonsense_Mutation_p.Q129*|CCDC178_ENST00000402325.1_Nonsense_Mutation_p.Q759*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.Q771*	p.Q809*							22	2607	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	c.2425C>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	38	6.811070	0.97857	0.0	1.16E-4	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	.	.	.	5.5	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-2.1849	11.0523	0.47898	0.0:0.573:0.3145:0.1125	.	.	.	.	X	809;809;771;833;759	.	ENSP00000300227:Q771X	Q	-	1	0	C18orf34	28808607	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	1.153000	0.31676	0.589000	0.29677	0.563000	0.77884	CAG		0.498	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		13	36	0	0	0	1	0	13	36				
NEDD9	4739	broad.mit.edu	37	6	11185821	11185821	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:11185821T>C	ENST00000379446.5	-	7	2245	c.2079A>G	c.(2077-2079)ctA>ctG	p.L693L	NEDD9_ENST00000504387.1_Silent_p.L693L|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	693					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGTGGTGGGTAGGCTCTGAG	0.507																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2077-2079)ctA>ctG		neural precursor cell expressed, developmentally down-regulated 9							127.0	114.0	118.0					6																	11185821		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11185821T>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2079A>G	6.37:g.11185821T>C						NEDD9_ENST00000504387.1_Silent_p.L693L|RP3-510L9.1_ENST00000500636.2_RNA	p.L693L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		7	2245	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	693					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.2079A>G	CCDS4520.1																																																																																				0.507	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		4	77	0	0	0	1	0	4	77				
RAB3GAP2	25782	broad.mit.edu	37	1	220340962	220340962	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:220340962T>G	ENST00000358951.2	-	25	2978	c.2862A>C	c.(2860-2862)gaA>gaC	p.E954D		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	954					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTTTTAATACTTCAGGGCTGA	0.388																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2860-2862)gaA>gaC		RAB3 GTPase activating protein subunit 2 (non-catalytic)							180.0	188.0	186.0					1																	220340962		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220340962T>G	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2862A>C	1.37:g.220340962T>G	ENSP00000351832:p.Glu954Asp						p.E954D	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	25	2978	-			954					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2862A>C	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	9.621	1.133772	0.21123	.	.	ENSG00000118873	ENST00000358951	T	0.32988	1.43	5.72	0.0259	0.14147	.	0.779805	0.12446	N	0.468179	T	0.09555	0.0235	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.13853	T	0.58	.	1.6641	0.02798	0.3464:0.0815:0.3102:0.262	.	954	Q9H2M9	RBGPR_HUMAN	D	954	ENSP00000351832:E954D	ENSP00000351832:E954D	E	-	3	2	RAB3GAP2	218407585	0.000000	0.05858	0.083000	0.20561	0.964000	0.63967	-1.752000	0.01819	0.061000	0.16311	0.528000	0.53228	GAA		0.388	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		58	140	0	0	0	1	0	58	140				
LAMA4	3910	broad.mit.edu	37	6	112493823	112493823	+	Missense_Mutation	SNP	C	C	T	rs146358872	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:112493823C>T	ENST00000230538.7	-	12	1938	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.R507Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R507Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R507Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	514	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCATGGTCCCGCTGCCTGGC	0.478																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1540-1542)cGg>cAg		laminin, alpha 4		C	GLN/ARG,GLN/ARG,GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	107.0	86.0	93.0		1541,1520,1520	5.5	1.0	6	dbSNP_134	93	0,8600		0,0,4300	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	43,43,43	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign,benign,benign	514/1824,507/1817,507/1817	112493823	5,13001	2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112493823C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1541G>A	6.37:g.112493823C>T	ENSP00000230538:p.Arg514Gln					LAMA4_ENST00000424408.2_Missense_Mutation_p.R507Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.R507Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R507Q	p.R514Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	12	1938	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	514			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1541G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927088	0.34002	0.001135	0.0	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	5.51	5.51	0.81932	Laminin I (1);	0.184499	0.49305	D	0.000147	T	0.03220	0.0094	L	0.34521	1.04	0.80722	D	1	B;B	0.16396	0.017;0.014	B;B	0.09377	0.004;0.003	T	0.39251	-0.9623	10	0.20519	T	0.43	.	9.2809	0.37727	0.0:0.8719:0.0:0.1281	.	514;507	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	514;507;507;507	ENSP00000230538:R514Q;ENSP00000429488:R507Q;ENSP00000374114:R507Q;ENSP00000416470:R507Q	ENSP00000230538:R514Q	R	-	2	0	LAMA4	112600516	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.893000	0.48633	2.749000	0.94314	0.563000	0.77884	CGG		0.478	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		16	39	0	0	0	1	0	16	39				
MRPS27	23107	broad.mit.edu	37	5	71524028	71524028	+	Intron	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71524028T>C	ENST00000261413.5	-	8	734				MRPS27_ENST00000457646.4_Intron|MRPS27_ENST00000515404.1_Silent_p.S197S|MRPS27_ENST00000522562.1_Intron|MRPS27_ENST00000513900.1_Intron	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27							mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AATTTTATTATGAACTGGAAG	0.328																																						ENST00000515404.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(589-591)tcA>tcG		mitochondrial ribosomal protein S27																																				SO:0001627	intron_variant	23107					mitochondrion|ribosome		g.chr5:71524028T>C	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.694+64A>G	5.37:g.71524028T>C						MRPS27_ENST00000261413.5_Intron|MRPS27_ENST00000513900.1_Intron|MRPS27_ENST00000457646.4_Intron|MRPS27_ENST00000522562.1_Intron	p.S197S			Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	8	744	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	0					B4DRT2|Q6P1S1	Silent	SNP	ENST00000261413.5	37	c.591A>G	CCDS4013.1																																																																																				0.328	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		8	13	0	0	0	1	0	8	13				
LRRC52	440699	broad.mit.edu	37	1	165514022	165514022	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:165514022G>T	ENST00000294818.1	+	1	779	c.489G>T	c.(487-489)caG>caT	p.Q163H	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	163					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCGGCTTGCAGACCCTGGACA	0.517																																						ENST00000294818.1																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18						c.(487-489)caG>caT		leucine rich repeat containing 52							158.0	157.0	157.0					1																	165514022		2203	4300	6503	SO:0001583	missense	440699					integral to membrane		g.chr1:165514022G>T	AK098677	CCDS30930.1	1q23.3	2008-02-05			ENSG00000162763	ENSG00000162763			32156	protein-coding gene	gene with protein product		615218					Standard	NM_001005214		Approved	FLJ25811	uc001gde.2	Q8N7C0	OTTHUMG00000034625	ENST00000294818.1:c.489G>T	1.37:g.165514022G>T	ENSP00000294818:p.Gln163His					RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	p.Q163H	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN			1	779	+	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		163					A2RUN7|Q5T9K5	Missense_Mutation	SNP	ENST00000294818.1	37	c.489G>T	CCDS30930.1	.	.	.	.	.	.	.	.	.	.	G	8.773	0.926393	0.18056	.	.	ENSG00000162763	ENST00000294818	T	0.02498	4.27	5.39	0.874	0.19124	.	0.343827	0.31323	N	0.007851	T	0.00906	0.0030	N	0.25890	0.77	0.26885	N	0.96745	B	0.09022	0.002	B	0.15484	0.013	T	0.45629	-0.9248	9	0.49607	T	0.09	.	9.9808	0.41813	0.0825:0.5272:0.3903:0.0	.	163	Q8N7C0	LRC52_HUMAN	H	163	ENSP00000294818:Q163H	ENSP00000294818:Q163H	Q	+	3	2	LRRC52	163780646	0.941000	0.31946	0.996000	0.52242	0.673000	0.39480	0.305000	0.19254	0.585000	0.29608	0.563000	0.77884	CAG		0.517	LRRC52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083793.1	NM_001005214		6	185	1	0	0.00116845	1	0.00118598	6	185				
COL11A2	1302	broad.mit.edu	37	6	33157148	33157148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33157148G>A	ENST00000374708.4	-	2	439	c.181C>T	c.(181-183)Cga>Tga	p.R61*	COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395194.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R61*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	61	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTGCCACTCGGTAGGCCACA	0.642																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(181-183)Cga>Tga		collagen, type XI, alpha 2							80.0	66.0	71.0					6																	33157148		1511	2709	4220	SO:0001587	stop_gained	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33157148G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.181C>T	6.37:g.33157148G>A	ENSP00000363840:p.Arg61*					COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395194.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R61*	p.R61*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			2	408	-			61			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	ENST00000374708.4	37	c.181C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	37	6.412050	0.97546	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	.	.	.	4.19	3.29	0.37713	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.278	0.37711	0.0:0.0:0.6087:0.3912	.	.	.	.	X	61	.	ENSP00000339915:R61X	R	-	1	2	COL11A2	33265126	0.908000	0.30866	1.000000	0.80357	0.973000	0.67179	-0.107000	0.10873	1.056000	0.40484	0.501000	0.49751	CGA		0.642	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			5	77	0	0	0	1	0	5	77				
AIFM3	150209	broad.mit.edu	37	22	21330573	21330573	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:21330573C>T	ENST00000399167.2	+	10	1117	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	AIFM3_ENST00000440238.2_Silent_p.L293L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.L293L|AIFM3_ENST00000405089.1_Silent_p.L299L|AIFM3_ENST00000335375.5_Silent_p.L281L|AIFM3_ENST00000333607.6_Silent_p.L293L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	293					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTACAGCAAGCTGCTGCTGGC	0.607																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(877-879)Ctg>Ttg		apoptosis-inducing factor, mitochondrion-associated, 3							101.0	85.0	91.0					22																	21330573		2203	4300	6503	SO:0001819	synonymous_variant	150209							g.chr22:21330573C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.877C>T	22.37:g.21330573C>T						AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Silent_p.L293L|AIFM3_ENST00000399163.2_Silent_p.L293L|AIFM3_ENST00000333607.6_Silent_p.L293L|AIFM3_ENST00000405089.1_Silent_p.L299L|AIFM3_ENST00000335375.5_Silent_p.L281L	p.L293L	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		10	1117	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.877C>T	CCDS13786.1																																																																																				0.607	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		10	34	0	0	0	1	0	10	34				
KCNA5	3741	broad.mit.edu	37	12	5154041	5154041	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:5154041C>T	ENST00000252321.3	+	1	957	c.728C>T	c.(727-729)cCg>cTg	p.P243L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	243					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TTCGAGTATCCGGAGAGCTCT	0.587																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(727-729)cCg>cTg		potassium voltage-gated channel, shaker-related subfamily, member 5							97.0	108.0	104.0					12																	5154041		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154041C>T	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.728C>T	12.37:g.5154041C>T	ENSP00000252321:p.Pro243Leu						p.P243L	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	957	+			243					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.728C>T	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307838	0.81247	.	.	ENSG00000130037	ENST00000252321	T	0.69685	-0.42	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	D	0.88332	0.6408	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92534	0.6036	10	0.87932	D	0	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	243	P22460	KCNA5_HUMAN	L	243	ENSP00000252321:P243L	ENSP00000252321:P243L	P	+	2	0	KCNA5	5024302	1.000000	0.71417	0.891000	0.34965	0.980000	0.70556	7.584000	0.82572	2.478000	0.83669	0.561000	0.74099	CCG		0.587	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		50	132	0	0	0	1	0	50	132				
CSF3R	1441	broad.mit.edu	37	1	36939479	36939479	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:36939479G>A	ENST00000373106.1	-	5	918	c.371C>T	c.(370-372)gCc>gTc	p.A124V	CSF3R_ENST00000418048.2_Missense_Mutation_p.A124V|CSF3R_ENST00000373103.1_Missense_Mutation_p.A124V|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000331941.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A124V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A124V|CSF3R_ENST00000361632.4_Missense_Mutation_p.A124V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A124V	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	124					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGGGGTATGGCTGGAGGGTC	0.607																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(370-372)gCc>gTc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						137.0	134.0	135.0					1																	36939479		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36939479G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.371C>T	1.37:g.36939479G>A	ENSP00000362198:p.Ala124Val					CSF3R_ENST00000361632.4_Missense_Mutation_p.A124V|CSF3R_ENST00000331941.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373106.1_Missense_Mutation_p.A124V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A124V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A124V|CSF3R_ENST00000418048.2_Missense_Mutation_p.A124V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A124V	p.A124V	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			5	918	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	124			Fibronectin type-III 1.			Missense_Mutation	SNP	ENST00000373106.1	37	c.371C>T	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618496	0.28801	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.38	2.37	0.29283	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.855056	0.10553	N	0.661209	T	0.23249	0.0562	L	0.55743	1.74	0.09310	N	1	P;P;P;P	0.41214	0.742;0.635;0.502;0.689	B;B;B;B	0.25614	0.048;0.062;0.028;0.039	T	0.19778	-1.0295	10	0.36615	T	0.2	-7.2559	3.418	0.07382	0.1534:0.1326:0.5774:0.1366	.	124;124;124;124	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	V	124	ENSP00000362198:A124V;ENSP00000362196:A124V;ENSP00000362195:A124V;ENSP00000355406:A124V;ENSP00000332180:A124V;ENSP00000401588:A124V;ENSP00000345013:A124V;ENSP00000397568:A124V	ENSP00000332180:A124V	A	-	2	0	CSF3R	36712066	0.009000	0.17119	0.000000	0.03702	0.110000	0.19582	1.778000	0.38614	0.651000	0.30788	0.511000	0.50034	GCC		0.607	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		27	62	0	0	0	1	0	27	62				
BAHCC1	57597	broad.mit.edu	37	17	79412649	79412649	+	Silent	SNP	C	C	T	rs569051529		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79412649C>T	ENST00000307745.7	+	14	3105	c.3105C>T	c.(3103-3105)gcC>gcT	p.A1035A																								TGCGCAGCGCCGAGGAAAAGA	0.692																																						ENST00000307745.7																			0											c.(3103-3105)gcC>gcT									12.0	18.0	16.0					17																	79412649		1893	3972	5865	SO:0001819	synonymous_variant	0							g.chr17:79412649C>T																												ENST00000307745.7:c.3105C>T	17.37:g.79412649C>T							p.A1035A							14	3105	+									Silent	SNP	ENST00000307745.7	37	c.3105C>T																																																																																					0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	5	0	0	0	1	0	3	5				
PSMF1	9491	broad.mit.edu	37	20	1106142	1106142	+	Splice_Site	SNP	C	C	T	rs372603862		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:1106142C>T	ENST00000335877.6	+	2	307	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Splice_Site_p.P44L|PSMF1_ENST00000246015.4_Splice_Site_p.P44L|PSMF1_ENST00000438768.2_Splice_Site_p.P44L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	44	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TCTTCCCAGCCGGGTCCCAAT	0.458																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.e2-1		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)		C	LEU/PRO,LEU/PRO	1,4405		0,1,2202	74.0	68.0	70.0		131,131	4.9	1.0	20		70	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice	PSMF1	NM_006814.3,NM_178578.2	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	44/272,44/272	1106142	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1106142C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.130-1C>T	20.37:g.1106142C>T						PSMF1_ENST00000246015.4_Splice_Site_p.P44_splice|PSMF1_ENST00000438768.2_Splice_Site_p.P44_splice|PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000333082.3_Splice_Site_p.P44_splice	p.P44_splice	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			2	307	+			44					A0AVQ9|D3DVW3|Q9H4I1	Splice_Site	SNP	ENST00000335877.6	37	c.129_splice	CCDS13010.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085916	0.36758	2.27E-4	0.0	ENSG00000125818	ENST00000333082;ENST00000381899;ENST00000246015;ENST00000335877;ENST00000438768	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.87	4.87	0.63330	.	0.133439	0.50627	D	0.000113	T	0.57989	0.2091	L	0.55481	1.735	0.80722	D	1	D;P;P	0.89917	1.0;0.948;0.948	D;B;B	0.91635	0.999;0.396;0.236	T	0.51663	-0.8677	10	0.28530	T	0.3	-3.7779	15.0252	0.71663	0.0:1.0:0.0:0.0	.	44;44;44	E7ER20;Q5QPM7;Q92530	.;.;PSMF1_HUMAN	L	44	ENSP00000327704:P44L;ENSP00000371324:P44L;ENSP00000246015:P44L;ENSP00000338039:P44L;ENSP00000401404:P44L	ENSP00000246015:P44L	P	+	2	0	PSMF1	1054142	0.998000	0.40836	0.953000	0.39169	0.358000	0.29455	5.067000	0.64357	2.527000	0.85204	0.585000	0.79938	CCG		0.458	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578	Missense_Mutation	15	34	0	0	0	1	0	15	34				
KRT33B	3884	broad.mit.edu	37	17	39521647	39521647	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39521647C>T	ENST00000251646.3	-	4	796	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	249	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCCCACCTGCGTGGCGAACC	0.627																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(745-747)acG>acA		keratin 33B							55.0	53.0	54.0					17																	39521647		2189	4296	6485	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521647C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.747G>A	17.37:g.39521647C>T							p.T249T	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			4	796	-		Breast(137;0.000496)	249			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.747G>A	CCDS11389.1																																																																																				0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		17	57	0	0	0	1	0	17	57				
POM121L12	285877	broad.mit.edu	37	7	53104142	53104142	+	Missense_Mutation	SNP	G	G	A	rs202031574	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:53104142G>A	ENST00000408890.4	+	1	794	c.778G>A	c.(778-780)Gcc>Acc	p.A260T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	260										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTCCAGCCCGCCCCATCCGC	0.657																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(778-780)Gcc>Acc		POM121 transmembrane nucleoporin-like 12							50.0	57.0	54.0					7																	53104142		2017	4174	6191	SO:0001583	missense	285877							g.chr7:53104142G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.778G>A	7.37:g.53104142G>A	ENSP00000386133:p.Ala260Thr						p.A260T	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	794	+			260					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.778G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	7.673	0.687324	0.14973	.	.	ENSG00000221900	ENST00000408890	T	0.25912	1.77	2.16	-4.31	0.03698	.	.	.	.	.	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.28419	0.211	B	0.19391	0.025	T	0.12889	-1.0530	9	0.56958	D	0.05	.	2.3928	0.04382	0.1725:0.1362:0.5107:0.1807	.	260	Q8N7R1	P1L12_HUMAN	T	260	ENSP00000386133:A260T	ENSP00000386133:A260T	A	+	1	0	POM121L12	53071636	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.248000	0.00541	-2.674000	0.00412	-0.410000	0.06199	GCC		0.657	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		8	110	0	0	0	1	0	8	110				
ZNF831	128611	broad.mit.edu	37	20	57768008	57768008	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:57768008C>T	ENST00000371030.2	+	1	1934	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	645							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGAAAGCCAGGGAGGTG	0.567																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1933-1935)gCc>gTc		zinc finger protein 831							64.0	74.0	71.0					20																	57768008		2029	4179	6208	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768008C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1934C>T	20.37:g.57768008C>T	ENSP00000360069:p.Ala645Val						p.A645V	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1934	+	all_lung(29;0.0085)		645					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1934C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927790	0.34002	.	.	ENSG00000124203	ENST00000371030	T	0.04654	3.58	5.09	0.446	0.16602	.	1.635060	0.03338	N	0.194334	T	0.04724	0.0128	L	0.44542	1.39	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.43605	-0.9381	10	0.13108	T	0.6	-0.3161	2.8837	0.05655	0.3752:0.3068:0.2341:0.0839	.	645	Q5JPB2	ZN831_HUMAN	V	645	ENSP00000360069:A645V	ENSP00000360069:A645V	A	+	2	0	ZNF831	57201403	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.040000	0.12104	0.120000	0.18254	0.655000	0.94253	GCC		0.567	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		36	85	0	0	0	1	0	36	85				
TARS	6897	broad.mit.edu	37	5	33459802	33459802	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:33459802C>T	ENST00000265112.3	+	11	1397	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TARS_ENST00000414361.2_Silent_p.S241S|TARS_ENST00000541634.1_Silent_p.S258S|TARS_ENST00000455217.2_Silent_p.S395S|TARS_ENST00000502553.1_Silent_p.S362S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	362					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTATCAGAGCGAATATAGGA	0.418																																						ENST00000265112.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29						c.(1084-1086)agC>agT		threonyl-tRNA synthetase	L-Threonine(DB00156)						60.0	64.0	63.0					5																	33459802		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33459802C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1086C>T	5.37:g.33459802C>T						TARS_ENST00000455217.2_Silent_p.S395S|TARS_ENST00000541634.1_Silent_p.S258S|TARS_ENST00000502553.1_Silent_p.S362S|TARS_ENST00000414361.2_Silent_p.S241S	p.S362S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN			11	1397	+			362					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.1086C>T	CCDS3899.1																																																																																				0.418	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		22	46	0	0	0	1	0	22	46				
GPR35	2859	broad.mit.edu	37	2	241569781	241569781	+	Missense_Mutation	SNP	G	G	A	rs376265458		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241569781G>A	ENST00000319838.5	+	6	1354	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	GPR35_ENST00000407714.1_Missense_Mutation_p.A138T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T|GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706																																						ENST00000319838.5																			1	Substitution - Missense(1)	p.A138T(1)	lung(1)	NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(412-414)Gcg>Acg		G protein-coupled receptor 35		G	THR/ALA,THR/ALA,THR/ALA	0,4318		0,0,2159	16.0	18.0	17.0		505,505,412	-2.9	0.0	2		17	1,8425		0,1,4212	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	58,58,58	0,1,6371	AA,AG,GG		0.0119,0.0,0.0078	benign,benign,benign	169/341,169/341,138/310	241569781	1,12743	2159	4213	6372	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569781G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.412G>A	2.37:g.241569781G>A	ENSP00000322731:p.Ala138Thr					GPR35_ENST00000407714.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T|GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T	p.A138T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1354	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	138					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.412G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805878	0.16467	0.0	1.19E-4	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	4.01	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	5.692270	0.02888	N	0.133775	T	0.26231	0.0640	L	0.37750	1.13	0.09310	N	1	P;P;B	0.41848	0.723;0.763;0.383	B;B;B	0.34824	0.122;0.19;0.125	T	0.12553	-1.0543	10	0.34782	T	0.22	-2.895	1.9157	0.03297	0.2545:0.3782:0.2378:0.1294	.	223;169;138	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	T	138;138;169;138;138	ENSP00000322731:A138T;ENSP00000385140:A138T;ENSP00000415890:A169T;ENSP00000384263:A138T;ENSP00000411788:A138T	ENSP00000322731:A138T	A	+	1	0	GPR35	241218454	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.225000	0.09151	-0.791000	0.04486	-0.384000	0.06662	GCG		0.706	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		4	57	0	0	0	1	0	4	57				
GPR98	84059	broad.mit.edu	37	5	90368409	90368409	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90368409A>G	ENST00000405460.2	+	86	18394	c.18298A>G	c.(18298-18300)Aca>Gca	p.T6100A	GPR98_ENST00000425867.2_Missense_Mutation_p.T1761A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6100					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGAAGGACAAATGCTGC	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(18298-18300)Aca>Gca		G protein-coupled receptor 98							201.0	187.0	192.0					5																	90368409		1991	4182	6173	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90368409A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18298A>G	5.37:g.90368409A>G	ENSP00000384582:p.Thr6100Ala					GPR98_ENST00000425867.2_Missense_Mutation_p.T1761A	p.T6100A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	86	18394	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6100					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.18298A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325832	0.60743	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.43294	0.95;0.95	6.06	6.06	0.98353	GPCR, family 2-like (1);	0.101452	0.64402	D	0.000002	T	0.57184	0.2036	M	0.64404	1.975	0.53688	D	0.999974	D;D;D	0.63046	0.992;0.978;0.99	P;P;P	0.61328	0.887;0.829;0.819	T	0.57057	-0.7876	9	.	.	.	.	12.4549	0.55697	0.8605:0.1395:0.0:0.0	.	1761;6100;1761	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	A	6100;6100;1761	ENSP00000384582:T6100A;ENSP00000392618:T1761A	.	T	+	1	0	GPR98	90404165	1.000000	0.71417	0.996000	0.52242	0.456000	0.32438	3.126000	0.50477	2.324000	0.78689	0.533000	0.62120	ACA		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		42	142	0	0	0	1	0	42	142				
PPP1R9A	55607	broad.mit.edu	37	7	94898626	94898626	+	Intron	SNP	G	G	A	rs374685907		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:94898626G>A	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000289495.5_Silent_p.P937P|PPP1R9A_ENST00000424654.1_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Silent_p.P977P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.P955P(1)|p.P977P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCACCCCGGTGGATAGCA	0.478										HNSCC(28;0.073)																												ENST00000289495.5																			2	Substitution - coding silent(2)	p.P955P(1)|p.P977P(1)	breast(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2809-2811)ccG>ccA		protein phosphatase 1, regulatory subunit 9A		G	,,,,	0,3136		0,0,1568	68.0	62.0	64.0		2931,2811,2865,,	-8.8	0.3	7		64	2,7160		0,2,3579	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,intron	PPP1R9A	NM_001166160.1,NM_001166161.1,NM_001166162.1,NM_001166163.1,NM_017650.2	,,,,	0,2,5147	AA,AG,GG		0.0279,0.0,0.0194	,,,,	977/1375,937/1297,955/1254,,	94898626	2,10296	1568	3581	5149	SO:0001627	intron_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94898626G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+607G>A	7.37:g.94898626G>A		HNSCC(28;0.073)				PPP1R9A_ENST00000433360.1_Silent_p.P977P|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Silent_p.P955P	p.P937P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	3027	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		932			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.2811G>A	CCDS34683.1																																																																																				0.478	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		12	43	0	0	0	1	0	12	43				
INCENP	3619	broad.mit.edu	37	11	61914294	61914294	+	Silent	SNP	G	G	C	rs374721937	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756													G|||	10	0.00199681	0.0061	0.0029	5008	,	,		11587	0.0		0.0	False		,,,				2504	0.0					ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2122-2124)cgG>cgC		inner centromere protein antigens 135/155kDa							3.0	5.0	5.0					11																	61914294		1897	3823	5720	SO:0001819	synonymous_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61914294G>C	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2124G>C	11.37:g.61914294G>C						INCENP_ENST00000278849.4_Silent_p.R704R	p.R708R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			15	2326	+			708					A8MQD2|Q5Y192	Silent	SNP	ENST00000394818.3	37	c.2124G>C	CCDS44624.1																																																																																				0.756	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		3	0	0	0	0	1	0	3	0				
KIAA0319L	79932	broad.mit.edu	37	1	35916052	35916052	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35916052C>T	ENST00000325722.3	-	14	2355	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.T144T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	707	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTGCTCGTGGGTAGGG	0.463																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2119-2121)acG>acA		KIAA0319-like							145.0	125.0	131.0					1																	35916052		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35916052C>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2121G>A	1.37:g.35916052C>T						KIAA0319L_ENST00000373266.4_Silent_p.T144T|KIAA0319L_ENST00000485551.1_5'UTR	p.T707T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			14	2355	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	707			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2121G>A	CCDS390.1																																																																																				0.463	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		34	84	0	0	0	1	0	34	84				
EHD1	10938	broad.mit.edu	37	11	64627665	64627665	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64627665C>T	ENST00000320631.3	-	3	900	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EHD1_ENST00000359393.2_Missense_Mutation_p.V216M	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	216	Dynamin-type G.			V -> M (in Ref. 2; AAD45866). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCACCACGCGGATCTTG	0.582																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(646-648)Gtg>Atg		EH-domain containing 1							105.0	96.0	99.0					11																	64627665		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64627665C>T	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.646G>A	11.37:g.64627665C>T	ENSP00000320516:p.Val216Met					EHD1_ENST00000359393.2_Missense_Mutation_p.V216M	p.V216M	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			3	900	-			216	V -> M (in Ref. 2; AAD45866).				O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.646G>A	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517499	0.64634	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38	5.07	5.07	0.68467	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98337	0.9448	M	0.86097	2.795	0.52099	D	0.999949	D;D	0.67145	0.996;0.996	D;D	0.65874	0.939;0.939	D	0.98985	1.0806	10	0.72032	D	0.01	-49.0631	15.9821	0.80116	0.0:1.0:0.0:0.0	.	216;216	B2R5U3;Q9H4M9	.;EHD1_HUMAN	M	216;216;192;230;80;230;80	ENSP00000320516:V216M;ENSP00000352354:V216M;ENSP00000391429:V80M;ENSP00000404944:V230M;ENSP00000396273:V80M	ENSP00000320516:V216M	V	-	1	0	EHD1	64384241	1.000000	0.71417	0.999000	0.59377	0.375000	0.29983	7.588000	0.82629	2.639000	0.89480	0.561000	0.74099	GTG		0.582	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		14	58	0	0	0	1	0	14	58				
PLXNA1	5361	broad.mit.edu	37	3	126723743	126723743	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:126723743C>T	ENST00000393409.2	+	5	1635	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	PLXNA1_ENST00000251772.4_Silent_p.D522D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	545					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGCGGCGGGACGCCTGTGAGC	0.692																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1633-1635)gaC>gaT		plexin A1							14.0	17.0	16.0					3																	126723743		2196	4288	6484	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126723743C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1635C>T	3.37:g.126723743C>T						PLXNA1_ENST00000251772.4_Silent_p.D522D	p.D545D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	5	1635	+			545						Silent	SNP	ENST00000393409.2	37	c.1635C>T	CCDS33847.2																																																																																				0.692	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		12	60	0	0	0	1	0	12	60				
IL6	3569	broad.mit.edu	37	7	22767150	22767150	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:22767150C>T	ENST00000404625.1	+	3	566	c.107C>T	c.(106-108)tCc>tTc	p.S36F	IL6_ENST00000406575.1_Missense_Mutation_p.S36F|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000420258.2_Missense_Mutation_p.S90F|IL6_ENST00000258743.5_Missense_Mutation_p.S36F|IL6_ENST00000407492.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.S13F|IL6_ENST00000401651.1_Intron			P05231	IL6_HUMAN	interleukin 6	36					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	GGAGAAGATTCCAAAGATGTA	0.587																																					Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(106-108)tCc>tTc		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						79.0	81.0	80.0					7																	22767150		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22767150C>T	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.107C>T	7.37:g.22767150C>T	ENSP00000385675:p.Ser36Phe					IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.S36F|IL6_ENST00000401630.3_Missense_Mutation_p.S13F|IL6_ENST00000420258.2_Missense_Mutation_p.S90F|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.S36F	p.S36F			P05231	IL6_HUMAN			3	566	+			36					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.107C>T	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	C	8.634	0.894349	0.17613	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;0.82;1.71;-1.08	5.29	0.0441	0.14224	.	1.045680	0.07377	N	0.886759	T	0.60077	0.2241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.26483	0.15;0.041;0.021	B;B;B	0.22601	0.04;0.018;0.01	T	0.50013	-0.8877	10	0.49607	T	0.09	1.8116	3.8196	0.08830	0.0:0.297:0.1964:0.5066	.	90;36;36	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	F	36;36;36;90;13;36	ENSP00000385675:S36F;ENSP00000405150:S36F;ENSP00000258743:S36F;ENSP00000405994:S90F;ENSP00000384928:S13F;ENSP00000385227:S36F	ENSP00000258743:S36F	S	+	2	0	IL6	22733675	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.292000	0.08332	0.162000	0.19483	0.455000	0.32223	TCC		0.587	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		32	77	0	0	0	1	0	32	77				
IFT172	26160	broad.mit.edu	37	2	27688651	27688651	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27688651G>A	ENST00000260570.3	-	17	1894	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	597					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1789-1791)atC>atT		intraflagellar transport 172 homolog (Chlamydomonas)							388.0	367.0	374.0					2																	27688651		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27688651G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1791C>T	2.37:g.27688651G>A							p.I597I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			17	1894	-	Acute lymphoblastic leukemia(172;0.155)		597					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1791C>T	CCDS1755.1																																																																																				0.552	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		197	418	0	0	0	1	0	197	418				
DTX1	1840	broad.mit.edu	37	12	113534571	113534571	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113534571G>A	ENST00000257600.3	+	9	2193	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	564					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTCACTATCGGCACGTCCAA	0.632																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1690-1692)Ggc>Agc		deltex homolog 1 (Drosophila)							75.0	50.0	58.0					12																	113534571		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534571G>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1690G>A	12.37:g.113534571G>A	ENSP00000257600:p.Gly564Ser					DTX1_ENST00000547974.1_3'UTR	p.G564S	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2193	+			564					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1690G>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359287	0.61403	.	.	ENSG00000135144	ENST00000257600	T	0.53423	0.62	4.99	4.09	0.47781	.	0.056716	0.64402	D	0.000001	T	0.69223	0.3087	M	0.86178	2.8	0.58432	D	0.999997	D	0.65815	0.995	D	0.67103	0.949	T	0.73319	-0.4020	10	0.51188	T	0.08	-11.1911	13.5483	0.61717	0.0:0.0:0.8426:0.1574	.	564	Q86Y01	DTX1_HUMAN	S	564	ENSP00000257600:G564S	ENSP00000257600:G564S	G	+	1	0	DTX1	112018954	1.000000	0.71417	0.599000	0.28851	0.002000	0.02628	9.790000	0.99075	1.070000	0.40811	0.561000	0.74099	GGC		0.632	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			9	24	0	0	0	1	0	9	24				
DZIP3	9666	broad.mit.edu	37	3	108391473	108391473	+	Silent	SNP	C	C	T	rs371315606		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:108391473C>T	ENST00000361582.3	+	23	2789	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	DZIP3_ENST00000463306.1_Silent_p.N853N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	853					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAACTGAACGCAGAAACTA	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13938	0.0		0.0	False		,,,				2504	0.0					ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2557-2559)aaC>aaT		DAZ interacting zinc finger protein 3		C		1,4405	2.1+/-5.4	0,1,2202	97.0	91.0	93.0		2559	-0.8	1.0	3		93	0,8598		0,0,4299	no	coding-synonymous	DZIP3	NM_014648.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		853/1209	108391473	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108391473C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2559C>T	3.37:g.108391473C>T						DZIP3_ENST00000463306.1_Silent_p.N853N	p.N853N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			23	2789	+			853					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.2559C>T	CCDS2952.1																																																																																				0.393	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		31	54	0	0	0	1	0	31	54				
PTK2	5747	broad.mit.edu	37	8	141745435	141745435	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141745435G>A	ENST00000522684.1	-	22	2174	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000521059.1_Missense_Mutation_p.P649S|PTK2_ENST00000395218.2_Missense_Mutation_p.P649S|PTK2_ENST00000517887.1_Missense_Mutation_p.P693S|PTK2_ENST00000535192.1_Missense_Mutation_p.P649S|PTK2_ENST00000519465.1_Missense_Mutation_p.P277S|PTK2_ENST00000538769.1_Missense_Mutation_p.P317S|PTK2_ENST00000340930.3_Missense_Mutation_p.P649S|PTK2_ENST00000519419.1_Missense_Mutation_p.P693S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGAGGGTAGGAGGACAATTT	0.488																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1945-1947)Cct>Tct		protein tyrosine kinase 2							145.0	118.0	127.0					8																	141745435		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141745435G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1945C>T	8.37:g.141745435G>A	ENSP00000429911:p.Pro649Ser					PTK2_ENST00000538769.1_Missense_Mutation_p.P317S|PTK2_ENST00000517887.1_Missense_Mutation_p.P693S|PTK2_ENST00000521059.1_Missense_Mutation_p.P649S|PTK2_ENST00000535192.1_Missense_Mutation_p.P649S|PTK2_ENST00000519465.1_Missense_Mutation_p.P277S|PTK2_ENST00000340930.3_Missense_Mutation_p.P649S|PTK2_ENST00000519419.1_Missense_Mutation_p.P693S|PTK2_ENST00000395218.2_Missense_Mutation_p.P649S	p.P649S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		22	2174	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	649			Protein kinase.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.1945C>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.279688|5.279688	0.95489|0.95489	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51991|0.51991	0.1707|0.1707	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	D;D;D;P;D;P;D;P;D;P|.	0.89917|.	0.961;0.996;1.0;0.952;0.996;0.94;1.0;0.926;0.998;0.847|.	P;P;D;P;D;P;D;P;D;P|.	0.73708|.	0.72;0.885;0.978;0.625;0.945;0.545;0.978;0.729;0.981;0.715|.	T|T	0.46830|0.46830	-0.9163|-0.9163	10|5	0.62326|.	D|.	0.03|.	.|.	19.4121|19.4121	0.94679|0.94679	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	649;344;569;649;671;649;601;497;317;277|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	S|F	649;649;277;693;649;601;649;570;344;321;649;317;693;347;495|659	ENSP00000429911:P649S;ENSP00000438009:P649S;ENSP00000429170:P277S;ENSP00000429082:P693S;ENSP00000429474:P649S;ENSP00000378644:P649S;ENSP00000428492:P321S;ENSP00000341189:P649S;ENSP00000445742:P317S;ENSP00000429129:P693S;ENSP00000430603:P347S|.	ENSP00000341189:P649S|.	P|S	-|-	1|2	0|0	PTK2|PTK2	141814617|141814617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.578000|9.578000	0.98200|0.98200	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.488	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		18	44	0	0	0	1	0	18	44				
KIF7	374654	broad.mit.edu	37	15	90172797	90172797	+	Missense_Mutation	SNP	G	G	A	rs189960711		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90172797G>A	ENST00000394412.3	-	17	3402	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1109					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTCGGAGCGTCACCACCTG	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14165	0.0		0.0	False		,,,				2504	0.0					ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(3325-3327)aCg>aTg		kinesin family member 7							51.0	48.0	49.0					15																	90172797		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90172797G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3326C>T	15.37:g.90172797G>A	ENSP00000377934:p.Thr1109Met						p.T1109M	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		17	3402	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1109					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.3326C>T	CCDS32325.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.3	4.625456	0.87560	.	.	ENSG00000166813	ENST00000394412	T	0.70631	-0.5	5.06	5.06	0.68205	.	0.100927	0.64402	D	0.000002	T	0.80138	0.4568	L	0.44542	1.39	0.54753	D	0.999989	D;D	0.89917	1.0;0.999	D;P	0.76071	0.987;0.826	T	0.81245	-0.1020	10	0.62326	D	0.03	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	595;1109	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	1109	ENSP00000377934:T1109M	ENSP00000377934:T1109M	T	-	2	0	KIF7	87973801	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	9.239000	0.95389	2.635000	0.89317	0.462000	0.41574	ACG		0.587	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		28	62	0	0	0	1	0	28	62				
PLEKHA8	84725	broad.mit.edu	37	7	30094419	30094419	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30094419G>A	ENST00000449726.1	+	8	1241	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PLEKHA8_ENST00000396257.2_Silent_p.P297P|PLEKHA8_ENST00000396259.1_Silent_p.P297P|PLEKHA8_ENST00000258679.7_Silent_p.P297P	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	297					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTTGCTCTCCGGAATGCCTCT	0.408																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(889-891)ccG>ccA		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							158.0	151.0	153.0					7																	30094419		2203	4300	6503	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30094419G>A	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.891G>A	7.37:g.30094419G>A						PLEKHA8_ENST00000396259.1_Silent_p.P297P|PLEKHA8_ENST00000258679.7_Silent_p.P297P|PLEKHA8_ENST00000396257.2_Silent_p.P297P	p.P297P	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			8	1241	+			297					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.891G>A	CCDS56473.1																																																																																				0.408	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		23	86	0	0	0	1	0	23	86				
HEPH	9843	broad.mit.edu	37	X	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:65413405C>T	ENST00000343002.2	+	7	1958	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	HEPH_ENST00000519389.1_Nonsense_Mutation_p.R486*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1456-1458)Cga>Tga		hephaestin							47.0	42.0	44.0					X																	65413405		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413405C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1294C>T	X.37:g.65413405C>T	ENSP00000343939:p.Arg432*					HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*	p.R486*			Q9BQS7	HEPH_HUMAN			8	1635	+			432			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.1456C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.919599	0.97105	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	.	.	.	5.39	4.47	0.54385	.	0.346769	0.27185	N	0.020534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	9.3231	0.37977	0.1586:0.6896:0.1518:0.0	.	.	.	.	X	486;435;165;435;435;432;432	.	ENSP00000337418:R165X	R	+	1	2	HEPH	65330130	0.001000	0.12720	1.000000	0.80357	0.984000	0.73092	0.645000	0.24782	2.259000	0.74868	0.594000	0.82650	CGA		0.368	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		3	15	0	0	0	1	0	3	15				
ZNF599	148103	broad.mit.edu	37	19	35250723	35250723	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35250723T>C	ENST00000329285.8	-	4	1356	c.983A>G	c.(982-984)cAa>cGa	p.Q328R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	328					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(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTCATATGTTGAGCAAATGA	0.428																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(982-984)cAa>cGa		zinc finger protein 599							61.0	61.0	61.0					19																	35250723		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250723T>C	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.983A>G	19.37:g.35250723T>C	ENSP00000333802:p.Gln328Arg						p.Q328R	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1356	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		328					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.983A>G	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.535434	0.00143	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.11495	2.77	2.9	0.773	0.18516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.02111	-0.68	0.09310	N	1	B	0.20887	0.049	B	0.26517	0.07	T	0.48055	-0.9068	9	0.09590	T	0.72	.	5.8416	0.18637	0.0:0.2584:0.0:0.7416	.	328	Q96NL3	ZN599_HUMAN	R	327;328;102	ENSP00000333802:Q328R	ENSP00000333802:Q328R	Q	-	2	0	ZNF599	39942563	0.000000	0.05858	0.003000	0.11579	0.422000	0.31414	-4.221000	0.00271	0.101000	0.17610	0.402000	0.26972	CAA		0.428	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		19	47	0	0	0	1	0	19	47				
KRT6A	3853	broad.mit.edu	37	12	52882150	52882150	+	Silent	SNP	G	G	A	rs370853930		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52882150G>A	ENST00000330722.6	-	7	1454	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	462	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597													g|||	1	0.000199681	0.0	0.0	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.0					ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1384-1386)atC>atT		keratin 6A		G		0,4406		0,0,2203	119.0	107.0	111.0		1386	-4.6	0.9	12		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6A	NM_005554.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		462/565	52882150	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882150G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1386C>T	12.37:g.52882150G>A							p.I462I	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1454	-			462			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1386C>T	CCDS41786.1																																																																																				0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		35	128	0	0	0	1	0	35	128				
FBN1	2200	broad.mit.edu	37	15	48733951	48733951	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:48733951A>C	ENST00000316623.5	-	50	6585	c.6130T>G	c.(6130-6132)Ttt>Gtt	p.F2044V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2044	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACAAGGAAAACCCTTCTGGA	0.438																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6130-6132)Ttt>Gtt		fibrillin 1							160.0	157.0	158.0					15																	48733951		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48733951A>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6130T>G	15.37:g.48733951A>C	ENSP00000325527:p.Phe2044Val						p.F2044V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	50	6585	-		all_lung(180;0.00279)	2044			EGF-like 35; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6130T>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077571	0.94000	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93604	-3.25	5.94	5.94	0.96194	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95124	0.8420	M	0.90145	3.09	0.80722	D	1	B	0.29481	0.245	B	0.35182	0.197	D	0.94373	0.7597	10	0.72032	D	0.01	.	16.0478	0.80731	1.0:0.0:0.0:0.0	.	2044	P35555	FBN1_HUMAN	V	2044;612;934	ENSP00000325527:F2044V	ENSP00000325527:F2044V	F	-	1	0	FBN1	46521243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.105000	0.94246	2.264000	0.75181	0.528000	0.53228	TTT		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			10	174	0	0	0	1	0	10	174				
GRIK2	2898	broad.mit.edu	37	6	102503424	102503424	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:102503424A>G	ENST00000421544.1	+	15	3021	c.2531A>G	c.(2530-2532)tAc>tGc	p.Y844C	GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000369138.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	844					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAATTTTTATACAAATCCAAA	0.373																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2530-2532)tAc>tGc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						80.0	93.0	88.0					6																	102503424		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503424A>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2531A>G	6.37:g.102503424A>G	ENSP00000397026:p.Tyr844Cys					GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y844C	p.Y844C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	3021	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	844					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2531A>G	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068809	0.76301	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.16457	2.44;2.4;2.34;2.66;2.4;2.45	5.68	5.68	0.88126	.	0.117372	0.64402	D	0.000012	T	0.28797	0.0714	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.996;0.998	D;D;D	0.70016	0.967;0.91;0.967	T	0.01786	-1.1274	10	0.52906	T	0.07	.	15.9826	0.80125	1.0:0.0:0.0:0.0	.	844;844;844	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	844;844;844;768;844;795;619	ENSP00000397026:Y844C;ENSP00000405596:Y844C;ENSP00000358134:Y844C;ENSP00000358133:Y768C;ENSP00000313276:Y844C;ENSP00000358130:Y795C	ENSP00000313276:Y844C	Y	+	2	0	GRIK2	102610117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	TAC		0.373	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			10	149	0	0	0	1	0	10	149				
URGCP	55665	broad.mit.edu	37	7	43916458	43916458	+	Silent	SNP	G	G	A	rs573563593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43916458G>A	ENST00000453200.1	-	6	3097	c.2604C>T	c.(2602-2604)tgC>tgT	p.C868C	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Silent_p.C825C|URGCP_ENST00000336086.6_Silent_p.C825C|URGCP_ENST00000402306.3_Silent_p.C859C|URGCP_ENST00000443736.1_Silent_p.C825C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.C825C			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	868	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCAGGGTCGCAGAAGGCCA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17282	0.001		0.0	False		,,,				2504	0.0					ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2473-2475)tgC>tgT		upregulator of cell proliferation							37.0	39.0	38.0					7																	43916458		2007	4181	6188	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916458G>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2604C>T	7.37:g.43916458G>A						URGCP_ENST00000443736.1_Silent_p.C825C|URGCP_ENST00000402306.3_Silent_p.C859C|URGCP_ENST00000447717.3_Silent_p.C825C|URGCP_ENST00000223341.7_Silent_p.C825C|URGCP_ENST00000453200.1_Silent_p.C868C|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron	p.C825C			Q8TCY9	URGCP_HUMAN			4	4711	-			868					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2475C>T	CCDS47578.1																																																																																				0.617	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		23	36	0	0	0	1	0	23	36				
PIWIL2	55124	broad.mit.edu	37	8	22140592	22140592	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22140592A>G	ENST00000454009.2	+	5	980	c.471A>G	c.(469-471)ggA>ggG	p.G157G	PIWIL2_ENST00000356766.6_Silent_p.G157G|PIWIL2_ENST00000521356.1_Silent_p.G157G	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	157					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TACCACTGGGAAGAGCAGCAG	0.532																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(469-471)ggA>ggG		piwi-like RNA-mediated gene silencing 2							90.0	81.0	84.0					8																	22140592		2203	4300	6503	SO:0001819	synonymous_variant	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22140592A>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.471A>G	8.37:g.22140592A>G						PIWIL2_ENST00000521356.1_Silent_p.G157G|PIWIL2_ENST00000454009.2_Silent_p.G157G	p.G157G	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	5	619	+			157					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	ENST00000454009.2	37	c.471A>G	CCDS6029.1																																																																																				0.532	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			22	56	0	0	0	1	0	22	56				
PDIA5	10954	broad.mit.edu	37	3	122811251	122811251	+	Silent	SNP	G	G	A	rs139086659	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122811251G>A	ENST00000316218.7	+	3	314	c.219G>A	c.(217-219)gcG>gcA	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(217-219)gcG>gcA		protein disulfide isomerase family A, member 5		G		2,4404	4.2+/-10.8	0,2,2201	120.0	111.0	114.0		219	0.8	1.0	3	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	PDIA5	NM_006810.3		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		73/520	122811251	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122811251G>A	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.219G>A	3.37:g.122811251G>A							p.A73A	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	3	314	+			73					D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	c.219G>A	CCDS3020.1																																																																																				0.527	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		27	56	0	0	0	1	0	27	56				
WDHD1	11169	broad.mit.edu	37	14	55433311	55433311	+	Missense_Mutation	SNP	C	C	T	rs145612447		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:55433311C>T	ENST00000360586.3	-	18	2257	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	WDHD1_ENST00000420358.2_Missense_Mutation_p.R608H|WDHD1_ENST00000421192.1_Missense_Mutation_p.R608H|WDHD1_ENST00000359167.4_Missense_Mutation_p.R249H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	731					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TATAACTGAACGCCAAAATTG	0.313																																						ENST00000360586.3																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						c.(2191-2193)cGt>cAt		WD repeat and HMG-box DNA binding protein 1		C	HIS/ARG,HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	84.0	75.0	78.0		1823,2192	2.8	0.9	14	dbSNP_134	78	0,8590		0,0,4295	no	missense,missense	WDHD1	NM_001008396.2,NM_007086.3	29,29	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	608/1007,731/1130	55433311	1,12989	2200	4295	6495	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55433311C>T	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2192G>A	14.37:g.55433311C>T	ENSP00000353793:p.Arg731His					WDHD1_ENST00000421192.1_Missense_Mutation_p.R608H|WDHD1_ENST00000359167.4_Missense_Mutation_p.R249H|WDHD1_ENST00000420358.2_Missense_Mutation_p.R608H	p.R731H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN			18	2257	-			731					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.2192G>A	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576608	0.45902	2.27E-4	0.0	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.70516	-0.09;0.44;-0.49	5.63	2.81	0.32909	.	0.109437	0.64402	N	0.000005	T	0.71091	0.3299	M	0.87180	2.865	0.58432	D	0.999999	P;P	0.52692	0.955;0.678	B;B	0.40940	0.344;0.143	T	0.71626	-0.4536	10	0.49607	T	0.09	.	10.0057	0.41955	0.0:0.7799:0.0:0.2201	.	249;731	F8W7P7;O75717	.;WDHD1_HUMAN	H	731;249;608	ENSP00000353793:R731H;ENSP00000352085:R249H;ENSP00000391049:R608H	ENSP00000352085:R249H	R	-	2	0	WDHD1	54503061	1.000000	0.71417	0.945000	0.38365	0.652000	0.38707	4.511000	0.60462	0.319000	0.23209	0.591000	0.81541	CGT		0.313	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		6	16	0	0	0	1	0	6	16				
LIG1	3978	broad.mit.edu	37	19	48620981	48620981	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48620981C>T	ENST00000263274.7	-	26	2916	c.2497G>A	c.(2497-2499)Gac>Aac	p.D833N	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.D765N|LIG1_ENST00000427526.2_Missense_Mutation_p.D802N|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	833					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCCAGTGGTCGGGAATCACA	0.642								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(2497-2499)Gac>Aac	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						37.0	31.0	33.0					19																	48620981		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48620981C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2497G>A	19.37:g.48620981C>T	ENSP00000263274:p.Asp833Asn					LIG1_ENST00000427526.2_Missense_Mutation_p.D802N|LIG1_ENST00000536218.1_Missense_Mutation_p.D765N	p.D833N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	26	2916	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	833					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2497G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.920948	0.73213	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	T;T;T	0.65549	-0.16;-0.16;-0.16	4.71	4.71	0.59529	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.217534	0.45126	D	0.000390	T	0.74688	0.3749	H	0.96805	3.885	0.80722	D	1	P;P;P	0.35923	0.522;0.528;0.485	B;B;B	0.34452	0.183;0.166;0.128	T	0.82926	-0.0215	10	0.72032	D	0.01	-13.1741	15.5506	0.76148	0.0:1.0:0.0:0.0	.	802;765;833	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	N	833;802;765	ENSP00000263274:D833N;ENSP00000442841:D802N;ENSP00000441531:D765N	ENSP00000263274:D833N	D	-	1	0	LIG1	53312793	0.999000	0.42202	0.934000	0.37439	0.819000	0.46315	4.208000	0.58486	2.334000	0.79466	0.561000	0.74099	GAC		0.642	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		10	28	0	0	0	1	0	10	28				
KRTAP26-1	388818	broad.mit.edu	37	21	31692135	31692135	+	Silent	SNP	G	G	A	rs374733847		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:31692135G>A	ENST00000360542.3	-	1	472	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	73						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGATTGCCGGTCTCACAGT	0.532																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(217-219)acC>acT		keratin associated protein 26-1							113.0	112.0	113.0					21																	31692135		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692135G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.219C>T	21.37:g.31692135G>A							p.T73T	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	472	-			73					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.219C>T	CCDS13588.1																																																																																				0.532	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		67	151	0	0	0	1	0	67	151				
PRKAA2	5563	broad.mit.edu	37	1	57173319	57173319	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:57173319G>A	ENST00000371244.4	+	9	1658	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	531					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GTTTCACCTCGCCTGGGCAGT	0.443																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(1591-1593)cGc>cAc		protein kinase, AMP-activated, alpha 2 catalytic subunit							153.0	137.0	142.0					1																	57173319		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57173319G>A	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1592G>A	1.37:g.57173319G>A	ENSP00000360290:p.Arg531His						p.R531H	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			9	1658	+			531					Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.1592G>A	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833188	0.71258	.	.	ENSG00000162409	ENST00000371244	T	0.73575	-0.76	5.99	5.99	0.97316	.	0.050193	0.85682	D	0.000000	T	0.75657	0.3879	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.46320	0.512	T	0.75451	-0.3313	10	0.45353	T	0.12	-14.2262	20.4777	0.99188	0.0:0.0:1.0:0.0	.	531	P54646	AAPK2_HUMAN	H	531	ENSP00000360290:R531H	ENSP00000360290:R531H	R	+	2	0	PRKAA2	56945907	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	CGC		0.443	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		34	120	0	0	0	1	0	34	120				
KIAA1614	57710	broad.mit.edu	37	1	180914516	180914516	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:180914516G>A	ENST00000367588.4	+	9	3420	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Missense_Mutation_p.R743H|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1122										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCGTGGGCCGCCTGGTGGAG	0.692																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(3364-3366)cGc>cAc		KIAA1614							29.0	33.0	32.0					1																	180914516		1976	4140	6116	SO:0001583	missense	57710							g.chr1:180914516G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3365G>A	1.37:g.180914516G>A	ENSP00000356560:p.Arg1122His					KIAA1614_ENST00000367587.1_Missense_Mutation_p.R743H|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	p.R1122H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			9	3420	+			1122					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.3365G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853724	0.51270	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.49720	1.37;0.77	4.91	3.02	0.34903	.	0.125439	0.53938	N	0.000057	T	0.44912	0.1316	M	0.75264	2.295	0.33823	D	0.629246	B;P	0.41420	0.308;0.749	B;B	0.35114	0.067;0.196	T	0.61806	-0.6987	9	0.87932	D	0	-11.655	11.1301	0.48341	0.1546:0.0:0.8454:0.0	.	743;1122	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	H	1122;743	ENSP00000356560:R1122H;ENSP00000356559:R743H	ENSP00000356559:R743H	R	+	2	0	KIAA1614	179181139	0.999000	0.42202	0.458000	0.27068	0.640000	0.38277	4.079000	0.57613	0.474000	0.27392	0.655000	0.94253	CGC		0.692	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		20	54	0	0	0	1	0	20	54				
ABCA3	21	broad.mit.edu	37	16	2336814	2336814	+	Silent	SNP	G	G	A	rs561806432		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2336814G>A	ENST00000301732.5	-	22	3859	c.3159C>T	c.(3157-3159)gcC>gcT	p.A1053A	ABCA3_ENST00000382381.3_Silent_p.A995A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1053					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|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)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGACGGCCAGGGCAGTGGCTG	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3157-3159)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 3							119.0	118.0	118.0					16																	2336814		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2336814G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3159C>T	16.37:g.2336814G>A						ABCA3_ENST00000382381.3_Silent_p.A995A	p.A1053A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			22	3859	-		Ovarian(90;0.17)	1053					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.3159C>T	CCDS10466.1																																																																																				0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	193	0	0	0	1	0	5	193				
HPN	3249	broad.mit.edu	37	19	35556186	35556186	+	Missense_Mutation	SNP	G	G	A	rs540599600	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35556186G>A	ENST00000262626.2	+	10	1669	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	HPN_ENST00000392226.1_Missense_Mutation_p.G282S|HPN_ENST00000597419.1_Missense_Mutation_p.G124S|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	282	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCAGCTGCCGGCCAGGCCCT	0.617													G|||	3	0.000599042	0.0	0.0	5008	,	,		19026	0.001		0.0	False		,,,				2504	0.002					ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(844-846)Ggc>Agc		hepsin	Coagulation factor VIIa(DB00036)						81.0	66.0	71.0					19																	35556186		2203	4300	6503	SO:0001583	missense	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35556186G>A		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.844G>A	19.37:g.35556186G>A	ENSP00000262626:p.Gly282Ser					HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.G124S|HPN_ENST00000392226.1_Missense_Mutation_p.G282S	p.G282S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		10	1669	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		282			Peptidase S1.		B2RDS4	Missense_Mutation	SNP	ENST00000262626.2	37	c.844G>A	CCDS32993.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627718	0.87560	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	D;D	0.87887	-2.31;-2.31	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	N	0.05487	-0.04	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.85130	0.991;0.901;0.997	D	0.89701	0.3905	10	0.62326	D	0.03	.	16.3153	0.82918	0.0:0.0:1.0:0.0	.	254;282;282	B7Z1L4;B2ZDQ2;P05981	.;.;HEPS_HUMAN	S	282;282;254	ENSP00000262626:G282S;ENSP00000376060:G282S	ENSP00000262626:G282S	G	+	1	0	HPN	40248026	0.996000	0.38824	0.900000	0.35374	0.947000	0.59692	2.532000	0.45659	2.455000	0.83008	0.555000	0.69702	GGC		0.617	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		15	52	0	0	0	1	0	15	52				
ZNF765	91661	broad.mit.edu	37	19	53911653	53911653	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53911653A>G	ENST00000396408.3	+	4	962	c.845A>G	c.(844-846)cAg>cGg	p.Q282R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	282					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)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACCTTCAGTCAGACATATTAC	0.413																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(844-846)cAg>cGg		zinc finger protein 765							107.0	105.0	106.0					19																	53911653		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911653A>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.845A>G	19.37:g.53911653A>G	ENSP00000379689:p.Gln282Arg					ZNF765_ENST00000594030.1_Intron	p.Q282R	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	962	+			282					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.845A>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	A	4.609	0.113193	0.08831	.	.	ENSG00000196417	ENST00000396408	T	0.01139	5.28	0.207	-0.414	0.12359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00815	0.0027	N	0.16478	0.41	0.09310	N	1	B	0.17465	0.022	B	0.27796	0.083	T	0.48670	-0.9015	8	.	.	.	.	1.4251	0.02321	0.3433:0.0:0.3195:0.3372	.	282	Q7L2R6	ZN765_HUMAN	R	282	ENSP00000379689:Q282R	.	Q	+	2	0	ZNF765	58603465	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	-0.541000	0.06099	-0.808000	0.04387	-0.805000	0.03199	CAG		0.413	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		36	86	0	0	0	1	0	36	86				
TRAF1	7185	broad.mit.edu	37	9	123675925	123675925	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:123675925C>T	ENST00000373887.3	-	5	2831	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	TRAF1_ENST00000540010.1_Missense_Mutation_p.R129Q|TRAF1_ENST00000546084.1_Missense_Mutation_p.R7Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	129					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACAGCCCAGCCGGGCCTTCCA	0.627																																						ENST00000373887.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						c.(385-387)cGg>cAg		TNF receptor-associated factor 1							39.0	42.0	41.0					9																	123675925		2198	4297	6495	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675925C>T	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.386G>A	9.37:g.123675925C>T	ENSP00000362994:p.Arg129Gln					TRAF1_ENST00000546084.1_Missense_Mutation_p.R7Q|TRAF1_ENST00000540010.1_Missense_Mutation_p.R129Q	p.R129Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN			5	2831	-			129					B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.386G>A	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	C	7.766	0.706423	0.15239	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.40476	1.65;1.65;1.03	5.41	-0.368	0.12537	.	0.660669	0.13707	N	0.368406	T	0.10594	0.0259	N	0.00707	-1.245	0.22975	N	0.998483	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	10	0.10377	T	0.69	-4.0523	5.8919	0.18917	0.0:0.1735:0.4007:0.4257	.	129	Q13077	TRAF1_HUMAN	Q	129;129;7	ENSP00000362994:R129Q;ENSP00000443183:R129Q;ENSP00000438583:R7Q	ENSP00000362994:R129Q	R	-	2	0	TRAF1	122715746	0.940000	0.31905	0.761000	0.31378	0.429000	0.31625	0.012000	0.13287	-0.320000	0.08640	-0.262000	0.10625	CGG		0.627	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		4	101	0	0	0	1	0	4	101				
ZBTB12	221527	broad.mit.edu	37	6	31867788	31867788	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31867788C>T	ENST00000375527.2	-	2	1470	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	EHMT2_ENST00000375537.4_5'Flank|EHMT2_ENST00000395728.3_5'Flank|C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375528.4_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	432					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(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CTTGAGGTGCCGCCTAATGGC	0.647																																						ENST00000375527.2																			0				endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						c.(1294-1296)cGg>cAg		zinc finger and BTB domain containing 12							35.0	28.0	30.0					6																	31867788		2184	4266	6450	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31867788C>T	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1295G>A	6.37:g.31867788C>T	ENSP00000364677:p.Arg432Gln					C2_ENST00000469372.1_Intron	p.R432Q	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN			2	1470	-			432					B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.1295G>A	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167001	0.78339	.	.	ENSG00000204366	ENST00000375527	T	0.07444	3.19	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.05181	0.0138	L	0.28192	0.835	0.39337	D	0.965516	D	0.71674	0.998	P	0.52066	0.689	T	0.51490	-0.8699	10	0.23891	T	0.37	.	14.4835	0.67599	0.0:1.0:0.0:0.0	.	432	Q9Y330	ZBT12_HUMAN	Q	432	ENSP00000364677:R432Q	ENSP00000364677:R432Q	R	-	2	0	ZBTB12	31975767	0.902000	0.30710	1.000000	0.80357	0.980000	0.70556	1.520000	0.35899	1.679000	0.50963	0.313000	0.20887	CGG		0.647	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		17	30	0	0	0	1	0	17	30				
SEPT12	124404	broad.mit.edu	37	16	4828125	4828125	+	Silent	SNP	C	C	T	rs148619854		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4828125C>T	ENST00000268231.8	-	9	1100	c.837G>A	c.(835-837)gcG>gcA	p.A279A	SEPT12_ENST00000396693.5_Silent_p.A233A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	279	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.A279A(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						ATTCACAGTGCGCCATGTTCT	0.587																																						ENST00000268231.8																			1	Substitution - coding silent(1)	p.A279A(1)	endometrium(1)	NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(835-837)gcG>gcA		septin 12		C	,	1,4393	2.1+/-5.4	0,1,2196	82.0	74.0	77.0		699,837	-6.8	0.8	16	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SEPT12	NM_001154458.2,NM_144605.4	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	233/313,279/359	4828125	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4828125C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.837G>A	16.37:g.4828125C>T						SEPT12_ENST00000396693.5_Silent_p.A233A	p.A279A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			9	1100	-			279					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.837G>A	CCDS10522.1																																																																																				0.587	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		10	20	0	0	0	1	0	10	20				
PLCXD2	257068	broad.mit.edu	37	3	111426772	111426772	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111426772G>T	ENST00000477665.1	+	2	487		c.e2-1		PLCXD2_ENST00000393934.3_Splice_Site	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTTTGTACAGGCTCACATGA	0.453																																						ENST00000393934.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						c.e2-1		phosphatidylinositol-specific phospholipase C, X domain containing 2							30.0	33.0	32.0					3																	111426772		2203	4300	6503	SO:0001630	splice_region_variant	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426772G>T	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.164-1G>T	3.37:g.111426772G>T						PLCXD2_ENST00000477665.1_Splice_Site		NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN			2	733	+								Q96N12	Splice_Site	SNP	ENST00000477665.1	37		CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140157	0.77775	.	.	ENSG00000240891	ENST00000393934;ENST00000477665	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8364	0.88699	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCXD2	112909462	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	9.420000	0.97426	2.884000	0.98904	0.655000	0.94253	.		0.453	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268	Intron	3	16	1	0	1	1	1	3	16				
GAS2L2	246176	broad.mit.edu	37	17	34077124	34077124	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34077124G>T	ENST00000254466.6	-	2	626	c.599C>A	c.(598-600)cCc>cAc	p.P200H	GAS2L2_ENST00000587565.1_Splice_Site_p.P184H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	200					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGTGGCAGGGCTGGCGCCT	0.711																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(598-600)cCc>cAc		growth arrest-specific 2 like 2							11.0	15.0	14.0					17																	34077124		2146	4209	6355	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34077124G>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.599C>A	17.37:g.34077124G>T	ENSP00000254466:p.Pro200His					GAS2L2_ENST00000587565.1_Splice_Site_p.P184_splice	p.P200H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	626	-		Ovarian(249;0.17)	200					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.599C>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372575	0.24857	.	.	ENSG00000132139	ENST00000254466	T	0.18810	2.19	5.0	1.62	0.23740	Growth-arrest-specific protein 2 domain (1);	0.813768	0.11188	N	0.590230	T	0.23133	0.0559	L	0.57536	1.79	0.09310	N	0.999998	P	0.46277	0.875	P	0.46975	0.533	T	0.12451	-1.0547	10	0.35671	T	0.21	0.5057	4.0845	0.09940	0.0773:0.142:0.4869:0.2937	.	200	Q8NHY3	GA2L2_HUMAN	H	200	ENSP00000254466:P200H	ENSP00000254466:P200H	P	-	2	0	GAS2L2	31101237	0.091000	0.21658	0.868000	0.34077	0.143000	0.21401	1.260000	0.32968	0.469000	0.27268	-0.479000	0.04858	CCC		0.711	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		18	43	1	0	6.49762e-13	1	6.77958e-13	18	43				
BPIFB6	128859	broad.mit.edu	37	20	31619501	31619501	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31619501G>A	ENST00000349552.1	+	1	48	c.48G>A	c.(46-48)acG>acA	p.T16T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	16			T -> M (in dbSNP:rs17301126).			extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGACTGGCACGCGAGCTGACC	0.667																																						ENST00000349552.1																			0											c.(46-48)acG>acA		BPI fold containing family B, member 6							41.0	32.0	35.0					20																	31619501		2203	4300	6503	SO:0001819	synonymous_variant	128859					extracellular region	lipid binding	g.chr20:31619501G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.48G>A	20.37:g.31619501G>A							p.T16T	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			1	48	+			16		T -> M (in dbSNP:rs17301126).				Silent	SNP	ENST00000349552.1	37	c.48G>A	CCDS13211.1																																																																																				0.667	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		17	26	0	0	0	1	0	17	26				
REST	5978	broad.mit.edu	37	4	57777468	57777468	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:57777468G>A	ENST00000309042.7	+	2	978	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	222					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACCGCTGCGGCTACAATAC	0.498																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(664-666)Ggc>Agc		RE1-silencing transcription factor							53.0	51.0	52.0					4																	57777468		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777468G>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.664G>A	4.37:g.57777468G>A	ENSP00000311816:p.Gly222Ser					REST_ENST00000514063.1_3'UTR	p.G222S	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			2	978	+	Glioma(25;0.08)|all_neural(26;0.181)		222					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.664G>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158728	0.94686	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.35236	1.32	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000003	T	0.55497	0.1924	L	0.52759	1.655	0.80722	D	1	B;D	0.76494	0.313;0.999	B;D	0.68765	0.14;0.96	T	0.55817	-0.8081	10	0.72032	D	0.01	-15.6402	18.6399	0.91392	0.0:0.0:1.0:0.0	.	222;222	Q13127-2;Q13127	.;REST_HUMAN	S	222	ENSP00000311816:G222S	ENSP00000311816:G222S	G	+	1	0	REST	57472225	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.623000	0.98386	2.749000	0.94314	0.655000	0.94253	GGC		0.498	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		20	40	0	0	0	1	0	20	40				
H2AFJ	55766	broad.mit.edu	37	12	14927707	14927707	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14927707G>A	ENST00000544848.1	+	1	438	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	101						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TGGGCAAAGTGACCATCGCTC	0.607																																						ENST00000544848.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						c.(301-303)gtG>gtA		H2A histone family, member J							75.0	74.0	75.0					12																	14927707		2203	4300	6503	SO:0001819	synonymous_variant	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927707G>A	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"""Histones / Replication-independent"""	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.303G>A	12.37:g.14927707G>A							p.V101V	NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN			1	438	+			101					Q9NV63	Silent	SNP	ENST00000544848.1	37	c.303G>A	CCDS31752.1																																																																																				0.607	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		5	152	0	0	0	1	0	5	152				
HRNR	388697	broad.mit.edu	37	1	152192622	152192622	+	Missense_Mutation	SNP	C	C	T	rs369964728		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152192622C>T	ENST00000368801.2	-	3	1558	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	495					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAGAGCCGTGTTGTCCG	0.542																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1483-1485)Ggc>Agc		hornerin		C	SER/GLY	0,4406		0,0,2203	312.0	291.0	298.0		1483	-0.7	0.0	1		298	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	495/2851	152192622	1,13005	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192622C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1483G>A	1.37:g.152192622C>T	ENSP00000357791:p.Gly495Ser					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G495S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1558	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		495					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1483G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894202	0.17613	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01933	4.55	3.63	-0.724	0.11177	.	.	.	.	.	T	0.00440	0.0014	L	0.27053	0.805	0.09310	N	1	B	0.34181	0.44	B	0.19148	0.024	T	0.43782	-0.9370	9	0.18710	T	0.47	.	6.6523	0.22969	0.0:0.5166:0.0:0.4834	.	495	Q86YZ3	HORN_HUMAN	S	495	ENSP00000357791:G495S	ENSP00000357791:G495S	G	-	1	0	HRNR	150459246	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.259000	0.01178	-0.046000	0.13446	0.499000	0.49734	GGC		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		5	416	0	0	0	1	0	5	416				
INPP5D	3635	broad.mit.edu	37	2	233990478	233990478	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233990478G>A	ENST00000359570.5	+	4	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.E125K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	125					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCTCCACCCGAGCTGCCCCC	0.612																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(373-375)Gag>Aag		inositol polyphosphate-5-phosphatase, 145kDa							33.0	37.0	36.0					2																	233990478		2183	4283	6466	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233990478G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.373G>A	2.37:g.233990478G>A	ENSP00000352575:p.Glu125Lys					INPP5D_ENST00000538935.1_Missense_Mutation_p.E125K|INPP5D_ENST00000474278.1_3'UTR	p.E125K			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	4	373	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	125					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.373G>A		.	.	.	.	.	.	.	.	.	.	G	5.956	0.360316	0.11296	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96232	-2.96;-2.92;-3.95;-3.91	5.23	5.23	0.72850	.	0.281738	0.39210	N	0.001434	D	0.90215	0.6941	.	.	.	0.31136	N	0.707204	P;P	0.44139	0.827;0.734	B;B	0.33750	0.169;0.081	D	0.88199	0.2882	9	0.21014	T	0.42	.	9.9742	0.41772	0.0929:0.0:0.9071:0.0	.	124;125	Q92835-2;Q92835	.;SHIP1_HUMAN	K	124;125;125;125	ENSP00000409018:E124K;ENSP00000415253:E125K;ENSP00000352575:E125K;ENSP00000441010:E125K	ENSP00000352575:E125K	E	+	1	0	INPP5D	233698722	0.859000	0.29813	0.954000	0.39281	0.071000	0.16799	1.132000	0.31418	2.438000	0.82558	0.650000	0.86243	GAG		0.612	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		5	23	0	0	0	1	0	5	23				
NUP210L	91181	broad.mit.edu	37	1	154030638	154030638	+	Missense_Mutation	SNP	G	G	A	rs202216243	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154030638G>A	ENST00000368559.3	-	22	3105	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1012C|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1012					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAATGGGCGTTTGGAAGAG	0.393													g|||	2	0.000399361	0.0008	0.0	5008	,	,		19469	0.001		0.0	False		,,,				2504	0.0					ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3034-3036)Cgc>Tgc		nucleoporin 210kDa-like		A	CYS/ARG,CYS/ARG	0,3754		0,0,1877	162.0	152.0	155.0		3034,3034	2.8	1.0	1		155	1,8211		0,1,4105	no	missense,missense	NUP210L	NM_001159484.1,NM_207308.2	180,180	0,1,5982	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	1012/1737,1012/1889	154030638	1,11965	1877	4106	5983	SO:0001583	missense	91181					integral to membrane		g.chr1:154030638G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3034C>T	1.37:g.154030638G>A	ENSP00000357547:p.Arg1012Cys					NUP210L_ENST00000271854.3_Missense_Mutation_p.R1012C	p.R1012C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		22	3105	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1012					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3034C>T	CCDS41399.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	13.59	2.282718	0.40394	0.0	1.22E-4	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.08008	3.4;3.14	4.76	2.84	0.33178	.	0.738828	0.12257	N	0.485047	T	0.03608	0.0103	L	0.51422	1.61	0.27390	N	0.955155	D;D	0.61697	0.978;0.99	B;B	0.43623	0.328;0.425	T	0.36286	-0.9754	10	0.52906	T	0.07	-7.5123	7.5386	0.27725	0.0905:0.1662:0.7433:0.0	.	1012;1012	E7EP56;Q5VU65	.;P210L_HUMAN	C	1012	ENSP00000357547:R1012C;ENSP00000271854:R1012C	ENSP00000271854:R1012C	R	-	1	0	NUP210L	152297262	0.989000	0.36119	0.980000	0.43619	0.488000	0.33401	2.131000	0.42074	0.590000	0.29694	-0.213000	0.12676	CGC		0.393	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		40	89	0	0	0	1	0	40	89				
KLHL36	79786	broad.mit.edu	37	16	84693388	84693388	+	Missense_Mutation	SNP	G	G	A	rs377188394		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84693388G>A	ENST00000564996.1	+	4	1301	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	387					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AACCAGCGCCGTGTGGATTTC	0.577																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1159-1161)cGt>cAt		kelch-like family member 36		G	HIS/ARG	0,4398		0,0,2199	109.0	99.0	102.0		1160	5.8	1.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	KLHL36	NM_024731.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	387/617	84693388	1,12997	2199	4300	6499	SO:0001583	missense	79786							g.chr16:84693388G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1160G>A	16.37:g.84693388G>A	ENSP00000456743:p.Arg387His					KLHL36_ENST00000258157.5_Intron	p.R387H	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			4	1301	+			387					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.1160G>A	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145563	0.94603	0.0	1.16E-4	ENSG00000135686	ENST00000325279	.	.	.	5.76	5.76	0.90799	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88696	0.3212	9	0.87932	D	0	.	18.9641	0.92689	0.0:0.0:1.0:0.0	.	387	Q8N4N3	KLH36_HUMAN	H	387	.	ENSP00000317442:R387H	R	+	2	0	KLHL36	83250889	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	9.431000	0.97494	2.713000	0.92767	0.655000	0.94253	CGT		0.577	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			17	44	0	0	0	1	0	17	44				
CNTROB	116840	broad.mit.edu	37	17	7837803	7837803	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7837803G>A	ENST00000563694.1	+	3	1301	c.376G>A	c.(376-378)Gct>Act	p.A126T	TRAPPC1_ENST00000540486.1_5'Flank|TRAPPC1_ENST00000303731.4_5'Flank|CNTROB_ENST00000380262.3_Missense_Mutation_p.A126T|CNTROB_ENST00000380255.3_Missense_Mutation_p.A126T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A126T	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	126					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATTCCTGGCGCTGGCTCAGA	0.542																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(376-378)Gct>Act		centrobin, centrosomal BRCA2 interacting protein							80.0	70.0	73.0					17																	7837803		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7837803G>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.376G>A	17.37:g.7837803G>A	ENSP00000456335:p.Ala126Thr					CNTROB_ENST00000563694.1_Missense_Mutation_p.A126T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A126T|CNTROB_ENST00000380255.3_Missense_Mutation_p.A126T	p.A126T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			3	1301	+		Prostate(122;0.173)	126					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.376G>A	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457043	0.12283	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.41400	1.59;1.0	5.16	-0.564	0.11774	.	0.633514	0.14648	N	0.306757	T	0.12646	0.0307	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.27739	-1.0065	10	0.14252	T	0.57	-2.7139	4.1799	0.10370	0.4699:0.1785:0.3516:0.0	.	126;126;126	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	T	126	ENSP00000369614:A126T;ENSP00000369605:A126T	ENSP00000369605:A126T	A	+	1	0	CNTROB	7778528	0.001000	0.12720	0.041000	0.18516	0.504000	0.33889	0.214000	0.17541	0.060000	0.16281	-0.137000	0.14449	GCT		0.542	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		13	26	0	0	0	1	0	13	26				
EIF2AK4	440275	broad.mit.edu	37	15	40294929	40294929	+	Missense_Mutation	SNP	C	C	T	rs201056702		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40294929C>T	ENST00000263791.5	+	22	3218	c.3175C>T	c.(3175-3177)Cgt>Tgt	p.R1059C	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1031C|EIF2AK4_ENST00000559311.1_3'UTR	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1059	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.R1059S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTCTCAATCCGTACAGCCAA	0.383																																						ENST00000263791.5																			1	Substitution - Missense(1)	p.R1059S(1)	lung(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(3175-3177)Cgt>Tgt		eukaryotic translation initiation factor 2 alpha kinase 4		C	CYS/ARG	0,3848		0,0,1924	190.0	185.0	186.0		3175	4.6	0.4	15		186	3,8277		0,3,4137	yes	missense	EIF2AK4	NM_001013703.2	180	0,3,6061	TT,TC,CC		0.0362,0.0,0.0247	probably-damaging	1059/1650	40294929	3,12125	1924	4140	6064	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40294929C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3175C>T	15.37:g.40294929C>T	ENSP00000263791:p.Arg1059Cys					EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1031C	p.R1059C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	22	3218	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1059			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3175C>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404882	0.62288	0.0	3.62E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.46451	0.87;0.87	5.57	4.64	0.57946	.	0.311326	0.37136	N	0.002224	T	0.48995	0.1531	L	0.36672	1.1	0.46061	D	0.998846	D	0.76494	0.999	P	0.62885	0.908	T	0.47433	-0.9118	10	0.52906	T	0.07	-4.5484	10.2553	0.43394	0.0:0.7828:0.1384:0.0788	.	1059	Q9P2K8	E2AK4_HUMAN	C	1059;1031	ENSP00000263791:R1059C;ENSP00000372174:R1031C	ENSP00000263791:R1059C	R	+	1	0	EIF2AK4	38082221	0.984000	0.35163	0.392000	0.26245	0.990000	0.78478	1.569000	0.36428	1.318000	0.45170	-0.282000	0.10007	CGT		0.383	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			41	88	0	0	0	1	0	41	88				
ADCY6	112	broad.mit.edu	37	12	49170939	49170939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49170939C>T	ENST00000307885.4	-	5	2018	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ADCY6_ENST00000357869.3_Missense_Mutation_p.D442N|ADCY6_ENST00000550422.1_Missense_Mutation_p.D442N|ADCY6_ENST00000552090.1_5'Flank	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	442					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGGCATGGTCGGCCCGGGCC	0.577																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1324-1326)Gac>Aac		adenylate cyclase 6							133.0	125.0	128.0					12																	49170939		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49170939C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1324G>A	12.37:g.49170939C>T	ENSP00000311405:p.Asp442Asn					ADCY6_ENST00000357869.3_Missense_Mutation_p.D442N|ADCY6_ENST00000550422.1_Missense_Mutation_p.D442N	p.D442N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			5	2018	-			442					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.1324G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024176	0.93462	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.85861	-2.04;-2.04;-2.04	4.43	4.43	0.53597	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86760	0.6010	L	0.37897	1.145	0.80722	D	1	D;D	0.71674	0.98;0.998	P;P	0.58620	0.642;0.842	D	0.87908	0.2695	10	0.56958	D	0.05	.	16.3463	0.83134	0.0:1.0:0.0:0.0	.	442;442	O43306-2;O43306	.;ADCY6_HUMAN	N	442	ENSP00000350536:D442N;ENSP00000446730:D442N;ENSP00000311405:D442N	ENSP00000311405:D442N	D	-	1	0	ADCY6	47457206	1.000000	0.71417	0.999000	0.59377	0.868000	0.49771	7.651000	0.83577	2.451000	0.82905	0.561000	0.74099	GAC		0.577	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		60	153	0	0	0	1	0	60	153				
AP1M2	10053	broad.mit.edu	37	19	10690405	10690405	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10690405C>T	ENST00000250244.6	-	7	885	c.803G>A	c.(802-804)cGc>cAc	p.R268H	AP1M2_ENST00000590923.1_Missense_Mutation_p.R270H	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	268	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTGCTGAGGCGGTATGACAT	0.607																																						ENST00000590923.1																			0				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9						c.(808-810)cGc>cAc		adaptor-related protein complex 1, mu 2 subunit							117.0	120.0	119.0					19																	10690405		2147	4276	6423	SO:0001583	missense	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10690405C>T	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.803G>A	19.37:g.10690405C>T	ENSP00000250244:p.Arg268His					AP1M2_ENST00000250244.6_Missense_Mutation_p.R268H	p.R270H			Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		7	892	-			268			MHD.		B2RDV5|Q9BSI8	Missense_Mutation	SNP	ENST00000250244.6	37	c.809G>A	CCDS45964.1	.	.	.	.	.	.	.	.	.	.	c	15.08	2.728203	0.48833	.	.	ENSG00000129354	ENST00000250244	T	0.24908	1.83	5.12	2.97	0.34412	Clathrin adaptor, mu subunit, C-terminal (3);	0.117651	0.56097	D	0.000027	T	0.48169	0.1485	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.45483	-0.9258	10	0.87932	D	0	-30.2514	8.1802	0.31307	0.1565:0.7595:0.0:0.084	.	270;268	Q9Y6Q5-2;Q9Y6Q5	.;AP1M2_HUMAN	H	268	ENSP00000250244:R268H	ENSP00000250244:R268H	R	-	2	0	AP1M2	10551405	1.000000	0.71417	0.997000	0.53966	0.006000	0.05464	7.678000	0.84035	0.567000	0.29293	-0.320000	0.08662	CGC		0.607	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			33	92	0	0	0	1	0	33	92				
SLC5A10	125206	broad.mit.edu	37	17	18916805	18916805	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18916805G>A	ENST00000395645.3	+	10	1083	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Silent_p.K288K|SLC5A10_ENST00000395643.2_Silent_p.K328K|SLC5A10_ENST00000395647.2_Silent_p.K371K|SLC5A10_ENST00000317977.6_Silent_p.K288K	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	355					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTACCCCAAGCTGGTCATGG	0.652																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(862-864)aaG>aaA		solute carrier family 5 (sodium/sugar cotransporter), member 10							53.0	47.0	49.0					17																	18916805		2203	4300	6503	SO:0001819	synonymous_variant	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18916805G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1065G>A	17.37:g.18916805G>A						SLC5A10_ENST00000395643.2_Silent_p.K328K|SLC5A10_ENST00000395645.3_Silent_p.K355K|SLC5A10_ENST00000395647.2_Silent_p.K371K|SLC5A10_ENST00000395642.1_Silent_p.K288K|SLC5A10_ENST00000417251.2_Intron	p.K288K			A0PJK1	SC5AA_HUMAN			9	1435	+			355					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	c.864G>A	CCDS42275.1																																																																																				0.652	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		21	58	0	0	0	1	0	21	58				
DNHD1	144132	broad.mit.edu	37	11	6519838	6519838	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6519838C>A	ENST00000527990.2	+	1	393	c.393C>A	c.(391-393)gtC>gtA	p.V131V	DNHD1_ENST00000477562.1_3'UTR|DNHD1_ENST00000354685.3_Silent_p.V131V|DNHD1_ENST00000254579.6_Silent_p.V131V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	131					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCCATTGTCCAGGCCTTTC	0.587																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(391-393)gtC>gtA		dynein heavy chain domain 1							142.0	139.0	140.0					11																	6519838		2201	4296	6497	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6519838C>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.393C>A	11.37:g.6519838C>A						DNHD1_ENST00000354685.3_Silent_p.V131V|DNHD1_ENST00000527990.2_Silent_p.V131V|DNHD1_ENST00000477562.1_3'UTR	p.V131V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	957	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	131					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.393C>A	CCDS44532.1																																																																																				0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		8	221	1	0	0.000157383	1	0.000160498	8	221				
PUS10	150962	broad.mit.edu	37	2	61175177	61175177	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:61175177C>T	ENST00000316752.6	-	16	1713		c.e16+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGAAGGATACGTGCCAGCCT	0.552																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.e16+1		pseudouridylate synthase 10							150.0	150.0	150.0					2																	61175177		2203	4300	6503	SO:0001630	splice_region_variant	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61175177C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1451+1G>A	2.37:g.61175177C>T						PUS10_ENST00000407787.1_Splice_Site		NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		16	1713	-								Q5JPJ5|Q96MI8	Splice_Site	SNP	ENST00000316752.6	37		CCDS1865.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255360	0.80135	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2406	0.98372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PUS10	61028681	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.445000	0.80570	2.857000	0.98124	0.650000	0.86243	.		0.552	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	Intron	30	113	0	0	0	1	0	30	113				
KCNH6	81033	broad.mit.edu	37	17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A	rs376994110		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61613357G>A	ENST00000583023.1	+	6	1440	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	477					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTCACCAGCGTGGGCTTCGG	0.602																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1429-1431)Gtg>Atg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	84.0	64.0	71.0		1429,1270	4.4	1.0	17		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	477/995,424/906	61613357	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613357G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1429G>A	17.37:g.61613357G>A	ENSP00000463533:p.Val477Met					KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M	p.V477M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1440	+			477					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1429G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092733	0.36952	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98249	-4.82;-4.82	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.91196	3.185	0.46260	D	0.998955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.993;0.994	D	0.99312	1.0904	10	0.87932	D	0	.	17.0722	0.86577	0.0:0.0:1.0:0.0	.	354;477;424;477;477	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	M	477;424	ENSP00000318212:V477M;ENSP00000396900:V424M	ENSP00000318212:V477M	V	+	1	0	KCNH6	58967089	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.657000	0.98554	2.244000	0.73946	0.313000	0.20887	GTG		0.602	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		23	50	0	0	0	1	0	23	50				
RHOBTB3	22836	broad.mit.edu	37	5	95091242	95091242	+	Silent	SNP	C	C	T	rs575094079		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:95091242C>T	ENST00000379982.3	+	6	1333	c.825C>T	c.(823-825)tgC>tgT	p.C275C	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	275	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TCGTTCTCTGCGCTGTAAGCC	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16863	0.0		0.0	False		,,,				2504	0.0					ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(823-825)tgC>tgT		Rho-related BTB domain containing 3							155.0	141.0	146.0					5																	95091242		2203	4300	6503	SO:0001819	synonymous_variant	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95091242C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.825C>T	5.37:g.95091242C>T						GLRX_ENST00000508780.1_Intron	p.C275C	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	6	1333	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	275			BTB 1.		A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	c.825C>T	CCDS4077.1																																																																																				0.428	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		8	120	0	0	0	1	0	8	120				
FKBP8	23770	broad.mit.edu	37	19	18648497	18648497	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18648497C>T	ENST00000596558.2	-	6	965	c.856G>A	c.(856-858)Gac>Aac	p.D286N	AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000597960.3_Missense_Mutation_p.D287N|FKBP8_ENST00000608443.1_Missense_Mutation_p.D287N|FKBP8_ENST00000453489.2_Missense_Mutation_p.D315N|FKBP8_ENST00000610101.1_Missense_Mutation_p.D127N|FKBP8_ENST00000222308.4_Missense_Mutation_p.D286N			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	286					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGTAGTGGTCGAGCTTCAGC	0.607																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(859-861)Gac>Aac		FK506 binding protein 8, 38kDa							82.0	63.0	69.0					19																	18648497		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648497C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.856G>A	19.37:g.18648497C>T	ENSP00000472302:p.Asp286Asn					FKBP8_ENST00000596558.1_Missense_Mutation_p.D286N|FKBP8_ENST00000453489.2_Missense_Mutation_p.D315N|FKBP8_ENST00000222308.3_Missense_Mutation_p.D287N|FKBP8_ENST00000544835.2_Missense_Mutation_p.D127N	p.D287N			Q14318	FKBP8_HUMAN			6	979	-			286					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.859G>A		.	.	.	.	.	.	.	.	.	.	C	17.80	3.479402	0.63849	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.39592	1.07;1.07;1.07	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.103325	0.64402	D	0.000005	T	0.55721	0.1938	L	0.51422	1.61	0.80722	D	1	D;B;B;D	0.89917	1.0;0.153;0.123;0.974	D;B;B;B	0.70227	0.968;0.046;0.06;0.374	T	0.46527	-0.9185	10	0.16420	T	0.52	-37.584	16.792	0.85591	0.0:1.0:0.0:0.0	.	315;230;286;287	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	N	287;127;315	ENSP00000222308:D287N;ENSP00000441267:D127N;ENSP00000388891:D315N	ENSP00000222308:D287N	D	-	1	0	FKBP8	18509497	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.362000	0.66098	2.439000	0.82584	0.644000	0.83932	GAC		0.607	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		13	45	0	0	0	1	0	13	45				
SPICE1	152185	broad.mit.edu	37	3	113184565	113184565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:113184565G>A	ENST00000295872.4	-	11	1481	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	408					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						ATGAGCTCTCGATGATCACCT	0.388																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1222-1224)Cga>Tga		spindle and centriole associated protein 1							164.0	151.0	155.0					3																	113184565		2203	4300	6503	SO:0001587	stop_gained	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113184565G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1222C>T	3.37:g.113184565G>A	ENSP00000295872:p.Arg408*						p.R408*	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			11	1481	-			408					D3DN72|Q8WUX6	Nonsense_Mutation	SNP	ENST00000295872.4	37	c.1222C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	39	7.815484	0.98504	.	.	ENSG00000163611	ENST00000295872	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3291	11.5321	0.50616	0.0:0.0:0.6984:0.3016	.	.	.	.	X	408	.	ENSP00000295872:R408X	R	-	1	2	SPICE1	114667255	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.549000	0.45803	2.639000	0.89480	0.650000	0.86243	CGA		0.388	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		18	54	0	0	0	1	0	18	54				
SV2B	9899	broad.mit.edu	37	15	91769874	91769874	+	Silent	SNP	C	C	T	rs148654261		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:91769874C>T	ENST00000394232.1	+	2	851	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	127					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(379-381)ttC>ttT		synaptic vesicle glycoprotein 2B		C	,	0,4396		0,0,2198	123.0	95.0	104.0		,381	-8.2	0.8	15	dbSNP_134	104	2,8594	2.2+/-6.3	0,2,4296	no	intron,coding-synonymous	SV2B	NM_001167580.1,NM_014848.4	,	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	,	,127/684	91769874	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769874C>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.381C>T	15.37:g.91769874C>T						SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F|SV2B_ENST00000557291.1_Intron	p.F127F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		2	851	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		127					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.381C>T	CCDS10370.1																																																																																				0.512	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		10	40	0	0	0	1	0	10	40				
CLTA	1211	broad.mit.edu	37	9	36211633	36211633	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:36211633C>T	ENST00000242285.6	+	7	729	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CLTA_ENST00000540080.1_Silent_p.D121D|CLTA_ENST00000345519.5_Silent_p.D173D|CLTA_ENST00000466396.1_Silent_p.D151D|CLTA_ENST00000433436.2_Silent_p.D203D|CLTA_ENST00000538225.1_Silent_p.D185D|CLTA_ENST00000470744.1_Silent_p.D185D|CLTA_ENST00000396603.2_Silent_p.D191D			P09496	CLCA_HUMAN	clathrin, light chain A	203					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			ATGACATTGACGAGTCGTCCC	0.537																																						ENST00000433436.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6						c.(607-609)gaC>gaT		clathrin, light chain A							106.0	101.0	103.0					9																	36211633		2203	4300	6503	SO:0001819	synonymous_variant	1211				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity	g.chr9:36211633C>T		CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"""clathrin, light polypeptide (Lca)"""			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.609C>T	9.37:g.36211633C>T						CLTA_ENST00000345519.5_Silent_p.D173D|CLTA_ENST00000538225.1_Silent_p.D185D|CLTA_ENST00000396603.2_Silent_p.D191D|CLTA_ENST00000470744.1_Silent_p.D185D|CLTA_ENST00000466396.1_Silent_p.D151D|CLTA_ENST00000540080.1_Silent_p.D121D|CLTA_ENST00000242285.6_Silent_p.D203D	p.D203D	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	810	+			203					A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Silent	SNP	ENST00000242285.6	37	c.609C>T	CCDS6601.1																																																																																				0.537	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052405.1	NM_007096		40	125	0	0	0	1	0	40	125				
PDE4A	5141	broad.mit.edu	37	19	10570423	10570423	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10570423G>A	ENST00000352831.6	+	10	1463	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	PDE4A_ENST00000293683.5_Silent_p.T425T|PDE4A_ENST00000440014.2_Silent_p.T390T|PDE4A_ENST00000592685.1_Silent_p.T429T|PDE4A_ENST00000380702.2_Silent_p.T429T|PDE4A_ENST00000344979.3_Silent_p.T212T	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	451	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCTGGCCACGCCTGCACTAG	0.587																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1285-1287)acG>acA		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						74.0	58.0	64.0					19																	10570423		2203	4300	6503	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10570423G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1353G>A	19.37:g.10570423G>A						PDE4A_ENST00000352831.6_Silent_p.T451T|PDE4A_ENST00000440014.2_Silent_p.T390T|PDE4A_ENST00000293683.5_Silent_p.T425T|PDE4A_ENST00000592685.1_Silent_p.T429T|PDE4A_ENST00000344979.3_Silent_p.T212T	p.T429T			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		11	1287	+			451			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.1287G>A	CCDS45961.1																																																																																				0.587	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			13	36	0	0	0	1	0	13	36				
PCDHA3	56145	broad.mit.edu	37	5	140182290	140182290	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182290C>T	ENST00000522353.2	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA3_ENST00000532566.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1507-1509)gCg>gTg									63.0	65.0	64.0					5																	140182290		2203	4299	6502	SO:0001583	missense	0							g.chr5:140182290C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1508C>T	5.37:g.140182290C>T	ENSP00000429808:p.Ala503Val					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A503V	p.A503V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1508C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.208757	0.58343	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.54866	0.63;0.55	4.75	1.88	0.25563	Cadherin (4);Cadherin-like (1);	1.573660	0.04380	U	0.360633	T	0.50257	0.1605	N	0.21324	0.655	0.09310	N	1	P;P	0.52692	0.955;0.869	P;B	0.52309	0.695;0.426	T	0.39461	-0.9613	10	0.62326	D	0.03	.	6.5408	0.22378	0.0:0.6382:0.1297:0.2321	.	503;503	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	503	ENSP00000429808:A503V;ENSP00000434086:A503V	ENSP00000429808:A503V	A	+	2	0	PCDHA3	140162474	0.000000	0.05858	0.963000	0.40424	0.802000	0.45316	-0.039000	0.12124	0.156000	0.19299	0.461000	0.40582	GCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		48	115	0	0	0	1	0	48	115				
AVPR1A	552	broad.mit.edu	37	12	63543657	63543657	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:63543657G>A	ENST00000299178.2	-	1	1065	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	320					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CGGTCCAGACGGACATGGGAT	0.532																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(958-960)tcC>tcT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						84.0	76.0	79.0					12																	63543657		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543657G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.960C>T	12.37:g.63543657G>A							p.S320S	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	1065	-			320						Silent	SNP	ENST00000299178.2	37	c.960C>T	CCDS8965.1																																																																																				0.532	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			31	76	0	0	0	1	0	31	76				
MYLK	4638	broad.mit.edu	37	3	123419105	123419105	+	Silent	SNP	G	G	A	rs200758888		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:123419105G>A	ENST00000475616.1	-	15	3209	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	MYLK_ENST00000360772.3_Silent_p.D1070D|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000359169.1_Silent_p.D1070D|MYLK_ENST00000360304.3_Silent_p.D1070D|MYLK_ENST00000346322.5_Silent_p.D1001D			Q15746	MYLK_HUMAN	myosin light chain kinase	1070	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATTCTTAACGTCTTTCTTGA	0.522																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3208-3210)gaC>gaT		myosin light chain kinase		G	,,,	0,4406		0,0,2203	259.0	260.0	259.0		3210,3003,3210,3003	-5.4	0.9	3		259	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	1070/1915,1001/1846,1070/1864,1001/1795	123419105	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419105G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3210C>T	3.37:g.123419105G>A						MYLK_ENST00000346322.5_Silent_p.D1001D|MYLK_ENST00000360304.3_Silent_p.D1070D|MYLK_ENST00000359169.1_Silent_p.D1070D|MYLK_ENST00000475616.1_Silent_p.D1070D	p.D1070D			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3588	-		Lung NSC(201;0.0496)	1070			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3210C>T	CCDS46896.1																																																																																				0.522	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		90	240	0	0	0	1	0	90	240				
MYL9	10398	broad.mit.edu	37	20	35176565	35176565	+	Silent	SNP	C	C	T	rs7273824		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:35176565C>T	ENST00000279022.2	+	3	419	c.315C>T	c.(313-315)aaC>aaT	p.N105N	RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Intron	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	105	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGATTCGCAACGCCTTTGCCT	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18605	0.0		0.0	False		,,,				2504	0.0					ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(313-315)aaC>aaT		myosin, light chain 9, regulatory		C	,	7,4399	12.9+/-30.5	0,7,2196	109.0	76.0	87.0		315,	-4.5	0.9	20	dbSNP_116	87	0,8600		0,0,4300	no	coding-synonymous,intron	MYL9	NM_006097.3,NM_181526.1	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	105/173,	35176565	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35176565C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.315C>T	20.37:g.35176565C>T						MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.N105N	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			3	419	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	105			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.315C>T	CCDS13276.1																																																																																				0.617	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		11	35	0	0	0	1	0	11	35				
RNF213	57674	broad.mit.edu	37	17	78319445	78319445	+	Missense_Mutation	SNP	G	G	A	rs367681353		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78319445G>A	ENST00000582970.1	+	29	7453	c.7310G>A	c.(7309-7311)cGg>cAg	p.R2437Q	RNF213_ENST00000336301.6_Missense_Mutation_p.R510Q|RNF213_ENST00000508628.2_Missense_Mutation_p.R2486Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2437					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCGACCTGCGGCGTGGTGGT	0.522																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7309-7311)cGg>cAg		ring finger protein 213		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	86.0	88.0		7457	1.9	0.3	17		88	0,8600		0,0,4300	no	missense	RNF213	NM_020914.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	2486/5257	78319445	1,13005	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319445G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7310G>A	17.37:g.78319445G>A	ENSP00000464087:p.Arg2437Gln					RNF213_ENST00000508628.2_Missense_Mutation_p.R2486Q|RNF213_ENST00000336301.6_Missense_Mutation_p.R510Q	p.R2437Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7453	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7310G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.016086	0.19355	2.27E-4	0.0	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41400	1.0	5.12	1.89	0.25635	ATPase, AAA+ type, core (1);	0.517021	0.20045	N	0.100424	T	0.24967	0.0606	N	0.25094	0.71	0.21967	N	0.999449	B	0.19935	0.04	B	0.11329	0.006	T	0.18999	-1.0319	10	0.15499	T	0.54	.	10.4102	0.44289	0.2239:0.0:0.7761:0.0	.	510	Q63HN8	RN213_HUMAN	Q	2437;2486;510	ENSP00000338218:R510Q	ENSP00000338218:R510Q	R	+	2	0	RNF213	75934040	1.000000	0.71417	0.292000	0.24919	0.264000	0.26372	1.708000	0.37899	0.359000	0.24239	0.655000	0.94253	CGG		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	118	0	0	0	1	0	6	118				
KCNJ5	3762	broad.mit.edu	37	11	128781963	128781963	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:128781963C>T	ENST00000338350.4	+	3	1147	c.795C>T	c.(793-795)gaC>gaT	p.D265D	KCNJ5_ENST00000529694.1_Silent_p.D265D|KCNJ5_ENST00000533599.1_Silent_p.D265D			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	265					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	ACACGGGCGACGACCGCCTCT	0.567																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(793-795)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						74.0	81.0	79.0					11																	128781963		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128781963C>T	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.795C>T	11.37:g.128781963C>T						KCNJ5_ENST00000533599.1_Silent_p.D265D|KCNJ5_ENST00000338350.4_Silent_p.D265D	p.D265D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1171	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	265					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.795C>T	CCDS8479.1																																																																																				0.567	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		21	79	0	0	0	1	0	21	79				
GDPD1	284161	broad.mit.edu	37	17	57335125	57335125	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:57335125T>C	ENST00000284116.4	+	6	637	c.500T>C	c.(499-501)gTg>gCg	p.V167A	Y_RNA_ENST00000384506.1_RNA|GDPD1_ENST00000581276.1_Missense_Mutation_p.V167A|GDPD1_ENST00000581140.1_Missense_Mutation_p.V167A	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	167	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCAGAGTTGGTGAAGCGGTAT	0.333																																						ENST00000284116.4																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(499-501)gTg>gCg		glycerophosphodiester phosphodiesterase domain containing 1							89.0	91.0	90.0					17																	57335125		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57335125T>C	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.500T>C	17.37:g.57335125T>C	ENSP00000284116:p.Val167Ala					GDPD1_ENST00000581140.1_Missense_Mutation_p.V167A|GDPD1_ENST00000581276.1_Missense_Mutation_p.V167A	p.V167A	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN			6	637	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		167			GDPD.		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.500T>C	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466093	0.43839	.	.	ENSG00000153982	ENST00000284116	T	0.12879	2.64	5.82	5.82	0.92795	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.051821	0.85682	D	0.000000	T	0.39358	0.1075	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.994;0.998	D;P	0.64237	0.923;0.889	T	0.30937	-0.9961	10	0.56958	D	0.05	-29.9391	15.363	0.74496	0.0:0.0:0.0:1.0	.	167;167	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	A	167	ENSP00000284116:V167A	ENSP00000284116:V167A	V	+	2	0	GDPD1	54689907	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.313000	0.78978	2.225000	0.72522	0.459000	0.35465	GTG		0.333	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		11	52	0	0	0	1	0	11	52				
ZNF263	10127	broad.mit.edu	37	16	3339479	3339479	+	Nonsense_Mutation	SNP	C	C	T	rs139107623		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3339479C>T	ENST00000219069.5	+	6	1849	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZNF263_ENST00000574253.1_Silent_p.P158P|ZNF263_ENST00000538765.1_5'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	325					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGACCAGGCCCGAGGGGAGGT	0.597																																						ENST00000219069.5																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						c.(973-975)Cga>Tga		zinc finger protein 263		C	stop/ARG	0,4394		0,0,2197	63.0	69.0	67.0		973	-5.0	0.4	16	dbSNP_134	67	1,8599		0,1,4299	no	stop-gained	ZNF263	NM_005741.4		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		325/684	3339479	1,12993	2197	4300	6497	SO:0001587	stop_gained	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339479C>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.973C>T	16.37:g.3339479C>T	ENSP00000219069:p.Arg325*					ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Silent_p.P158P	p.R325*	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN			6	1849	+			325					B2R634|O43387|Q96H95	Nonsense_Mutation	SNP	ENST00000219069.5	37	c.973C>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	C	38	7.246057	0.98161	0.0	1.16E-4	ENSG00000006194	ENST00000219069	.	.	.	5.23	-4.98	0.03019	.	0.439260	0.21954	N	0.066698	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	3.0573	0.06188	0.1948:0.3603:0.3294:0.1156	.	.	.	.	X	325	.	ENSP00000219069:R325X	R	+	1	2	ZNF263	3279480	0.059000	0.20769	0.418000	0.26571	0.000000	0.00434	0.140000	0.16056	-0.812000	0.04363	-2.411000	0.00221	CGA		0.597	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			32	96	0	0	0	1	0	32	96				
KCNQ3	3786	broad.mit.edu	37	8	133196530	133196530	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:133196530G>A	ENST00000388996.4	-	3	982	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	188					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R188W(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGTCGGCCCCGCCAGCCTTTG	0.537																																						ENST00000388996.4																			2	Substitution - Missense(2)	p.R188W(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(562-564)Cgg>Tgg		potassium voltage-gated channel, KQT-like subfamily, member 3							85.0	87.0	87.0					8																	133196530		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196530G>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.562C>T	8.37:g.133196530G>A	ENSP00000373648:p.Arg188Trp					KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W	p.R188W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	982	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		188					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.562C>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304080	0.81136	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97772	-4.53;-4.53;-4.53	5.87	2.71	0.32032	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	L	0.49699	1.58	0.51012	D	0.999905	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97820	1.0256	10	0.87932	D	0	-24.2394	13.0159	0.58757	0.0:0.0:0.3351:0.6648	.	188;188	E7ET42;O43525	.;KCNQ3_HUMAN	W	188;68;188;177;67	ENSP00000373648:R188W;ENSP00000429799:R68W;ENSP00000428790:R188W	ENSP00000373648:R188W	R	-	1	2	KCNQ3	133265712	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.634000	0.46528	0.754000	0.32968	0.655000	0.94253	CGG		0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		40	115	0	0	0	1	0	40	115				
KIF16B	55614	broad.mit.edu	37	20	16359636	16359636	+	Missense_Mutation	SNP	G	G	A	rs147683391		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16359636G>A	ENST00000354981.2	-	19	3168	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	KIF16B_ENST00000355755.3_Missense_Mutation_p.A1004V|KIF16B_ENST00000378003.2_Missense_Mutation_p.A230V|KIF16B_ENST00000408042.1_Missense_Mutation_p.A1004V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1004	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCTCCAGCGCCTCTCTCTG	0.552																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3010-3012)gCg>gTg		kinesin family member 16B		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	90.0	95.0	93.0		3011,3011,3011	5.6	1.0	20	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1004/1267,1004/1393,1004/1318	16359636	1,13005	2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359636G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3011C>T	20.37:g.16359636G>A	ENSP00000347076:p.Ala1004Val					KIF16B_ENST00000408042.1_Missense_Mutation_p.A1004V|KIF16B_ENST00000378003.2_Missense_Mutation_p.A230V|KIF16B_ENST00000355755.3_Missense_Mutation_p.A1004V	p.A1004V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3168	-			1004			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3011C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	33	5.290940	0.95546	0.0	1.16E-4	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.75477	-0.94;-0.92;1.27;-0.85	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.84888	0.0835	10	0.56958	D	0.05	.	19.1862	0.93645	0.0:0.0:1.0:0.0	.	1004;1004;1004;1004	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	1004;1004;848;230;1004	ENSP00000347076:A1004V;ENSP00000347995:A1004V;ENSP00000367242:A230V;ENSP00000384164:A1004V	ENSP00000347076:A1004V	A	-	2	0	KIF16B	16307636	1.000000	0.71417	0.968000	0.41197	0.935000	0.57460	7.400000	0.79949	2.642000	0.89623	0.643000	0.83706	GCG		0.552	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		54	121	0	0	0	1	0	54	121				
KIAA0100	9703	broad.mit.edu	37	17	26945913	26945913	+	Missense_Mutation	SNP	G	G	A	rs528597756		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:26945913G>A	ENST00000528896.2	-	32	5793	c.5719C>T	c.(5719-5721)Cgt>Tgt	p.R1907C	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1764C|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1764C|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1907						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)					TCAGTGCGACGGACCACACTC	0.512																																						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.(5719-5721)Cgt>Tgt		KIAA0100							131.0	107.0	115.0					17																	26945913		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26945913G>A	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.5719C>T	17.37:g.26945913G>A	ENSP00000436773:p.Arg1907Cys					KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1764C|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1764C	p.R1907C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			32	5793	-	Lung NSC(42;0.00431)		1907					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5719C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404547	0.83230	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.45276	0.9;0.9	5.36	5.36	0.76844	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70197	-0.4938	10	0.59425	D	0.04	.	18.6657	0.91489	0.0:0.0:1.0:0.0	.	1907	Q14667	K0100_HUMAN	C	1907;1877;1907;1764	ENSP00000436773:R1907C;ENSP00000446443:R1764C	ENSP00000005905:R1907C	R	-	1	0	KIAA0100	23970040	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.711000	0.68400	2.518000	0.84900	0.655000	0.94253	CGT		0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		17	84	0	0	0	1	0	17	84				
KXD1	79036	broad.mit.edu	37	19	18679399	18679399	+	Silent	SNP	C	C	T	rs144609970	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18679399C>T	ENST00000602094.1	+	5	1949	c.489C>T	c.(487-489)aaC>aaT	p.N163N	KXD1_ENST00000595073.1_Silent_p.N163N|KXD1_ENST00000222307.4_Silent_p.N163N|KXD1_ENST00000601630.1_Silent_p.N182N|KXD1_ENST00000599319.1_Silent_p.N163N|KXD1_ENST00000539106.1_Silent_p.N163N|KXD1_ENST00000540691.1_Silent_p.N163N|AC005253.4_ENST00000593791.1_RNA			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	163					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											CAGCCATCAACGGCCGCAGCC	0.672													C|||	37	0.00738818	0.0272	0.0014	5008	,	,		17447	0.0		0.0	False		,,,				2504	0.0					ENST00000602094.1																			0											c.(487-489)aaC>aaT		KxDL motif containing 1		C	,,	94,4312	76.8+/-115.0	1,92,2110	76.0	73.0	74.0		489,489,489	-6.7	0.2	19	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	C19orf50	NM_001171948.1,NM_001171949.1,NM_024069.3	,,	1,94,6408	TT,TC,CC		0.0233,2.1335,0.7381	,,	163/177,163/177,163/177	18679399	96,12910	2203	4300	6503	SO:0001819	synonymous_variant	79036						protein binding	g.chr19:18679399C>T	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.489C>T	19.37:g.18679399C>T						KXD1_ENST00000599319.1_Silent_p.N163N|KXD1_ENST00000601630.1_Silent_p.N182N|KXD1_ENST00000222307.4_Silent_p.N163N|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Silent_p.N163N|KXD1_ENST00000595073.1_Silent_p.N163N|KXD1_ENST00000539106.1_Silent_p.N163N	p.N163N			Q9BQD3	CS050_HUMAN			5	1949	+			163					O76098	Silent	SNP	ENST00000602094.1	37	c.489C>T	CCDS12381.1																																																																																				0.672	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		30	92	0	0	0	1	0	30	92				
SMARCD2	6603	broad.mit.edu	37	17	61911540	61911540	+	Missense_Mutation	SNP	C	C	T	rs147427461		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61911540C>T	ENST00000448276.2	-	8	1335	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SMARCD2_ENST00000323347.10_Missense_Mutation_p.R309H|SMARCD2_ENST00000225742.9_Missense_Mutation_p.R282H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	357	SWIB.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GCGGAAGTAACGGTTGCAGTT	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1069-1071)cGt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2																																				SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911540C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1070G>A	17.37:g.61911540C>T	ENSP00000392617:p.Arg357His		OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1057	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R282H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R309H	p.R357H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			8	1335	-			357			SWIB.		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1070G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	6.279	0.419510	0.11928	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.43294	0.95;0.96	5.44	4.48	0.54585	SWIB/MDM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	L	0.39898	1.24	0.58432	D	0.999997	D;D;D	0.76494	0.994;0.995;0.999	P;D;D	0.69307	0.579;0.919;0.963	T	0.54077	-0.8347	10	0.59425	D	0.04	-11.1647	11.9779	0.53103	0.0:0.917:0.0:0.083	.	309;320;357	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	H	357;299;320;309	ENSP00000392617:R357H;ENSP00000318451:R309H	ENSP00000225742:R299H	R	-	2	0	SMARCD2	59265272	0.931000	0.31567	0.970000	0.41538	0.001000	0.01503	2.006000	0.40874	1.546000	0.49388	-0.136000	0.14681	CGT		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		8	13	0	0	0	1	0	8	13				
TUBGCP3	10426	broad.mit.edu	37	13	113212589	113212589	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113212589C>T	ENST00000261965.3	-	5	655	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V157M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	157					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCCCACGCTGCCGGAG	0.622																																						ENST00000261965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25						c.(469-471)Gtg>Atg		tubulin, gamma complex associated protein 3							71.0	69.0	70.0					13																	113212589		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113212589C>T	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.469G>A	13.37:g.113212589C>T	ENSP00000261965:p.Val157Met					TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V157M	p.V157M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN			5	655	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		157					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.469G>A	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018681	0.19355	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.22743	1.95;1.94	4.81	-9.63	0.00544	.	0.538666	0.21390	N	0.075335	T	0.02767	0.0083	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.27380	0.002;0.177;0.003;0.001	B;B;B;B	0.15870	0.001;0.014;0.002;0.001	T	0.27400	-1.0075	10	0.36615	T	0.2	-2.2379	2.1391	0.03770	0.1487:0.2516:0.3778:0.2219	.	147;157;157;157	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	M	157	ENSP00000261965:V157M;ENSP00000364821:V157M	ENSP00000261965:V157M	V	-	1	0	TUBGCP3	112260590	0.099000	0.21834	0.016000	0.15963	0.725000	0.41563	-0.267000	0.08619	-2.546000	0.00482	-0.401000	0.06369	GTG		0.622	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		24	56	0	0	0	1	0	24	56				
JAG2	3714	broad.mit.edu	37	14	105609046	105609046	+	Missense_Mutation	SNP	C	C	T	rs199682063	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105609046C>T	ENST00000331782.3	-	26	4106	c.3703G>A	c.(3703-3705)Gcc>Acc	p.A1235T	JAG2_ENST00000347004.2_Missense_Mutation_p.A1197T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1235				A -> V (in Ref. 2; AAB61285). {ECO:0000305}.	auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCTTGCCGGCGTAGCGGGCC	0.716													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		10385	0.0		0.0	False		,,,				2504	0.0					ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(3703-3705)Gcc>Acc		jagged 2		C	THR/ALA,THR/ALA	37,4303		0,37,2133	8.0	9.0	8.0		3703,3589	0.6	0.0	14		8	1,8519		0,1,4259	yes	missense,missense	JAG2	NM_002226.3,NM_145159.1	58,58	0,38,6392	TT,TC,CC		0.0117,0.8525,0.2955	benign,benign	1235/1239,1197/1201	105609046	38,12822	2170	4260	6430	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609046C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3703G>A	14.37:g.105609046C>T	ENSP00000328169:p.Ala1235Thr					JAG2_ENST00000347004.2_Missense_Mutation_p.A1197T	p.A1235T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	4106	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1235	A -> V (in Ref. 2; AAB61285).				Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3703G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	4.019	0.000859	0.07819	0.008525	1.17E-4	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86562	-2.14;-2.14	4.52	0.568	0.17333	.	1.179030	0.06262	N	0.694075	T	0.71151	0.3306	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.017	B;B	0.12156	0.007;0.003	T	0.56408	-0.7984	10	0.23891	T	0.37	.	6.9851	0.24723	0.0:0.6264:0.128:0.2457	.	1197;1235	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	1235;1197	ENSP00000328169:A1235T;ENSP00000328566:A1197T	ENSP00000328169:A1235T	A	-	1	0	JAG2	104680091	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.640000	0.24705	-0.198000	0.10333	-1.332000	0.01269	GCC		0.716	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			6	8	0	0	0	1	0	6	8				
HERC2	8924	broad.mit.edu	37	15	28386876	28386876	+	Splice_Site	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28386876C>A	ENST00000261609.7	-	77	11925		c.e77+1			NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATATAATAACCTGTTCATCC	0.418																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.e77+1		HECT and RLD domain containing E3 ubiquitin protein ligase 2							168.0	159.0	162.0					15																	28386876		2203	4300	6503	SO:0001630	splice_region_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386876C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11816+1G>T	15.37:g.28386876C>A								NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	77	11925	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)							Splice_Site	SNP	ENST00000261609.7	37		CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478876	0.63849	.	.	ENSG00000128731	ENST00000261609	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC2	26060471	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	3.729000	0.54999	2.555000	0.86185	0.561000	0.74099	.		0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	Intron	45	117	1	0	2.95478e-19	1	3.09494e-19	45	117				
SLAMF8	56833	broad.mit.edu	37	1	159799839	159799839	+	Missense_Mutation	SNP	G	G	A	rs534230763		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159799839G>A	ENST00000289707.5	+	2	373	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	75					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TACCATTCCCGCTTCCTGGGC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		19814	0.0		0.0	False		,,,				2504	0.001					ENST00000289707.5																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(223-225)cGc>cAc		SLAM family member 8							87.0	94.0	91.0					1																	159799839		2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159799839G>A	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.224G>A	1.37:g.159799839G>A	ENSP00000289707:p.Arg75His					SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	p.R75H	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN			2	373	+	all_hematologic(112;0.0597)		75					Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.224G>A	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124648	0.77436	.	.	ENSG00000158714	ENST00000289707	T	0.23950	1.88	4.44	4.44	0.53790	.	0.361926	0.26836	N	0.022255	T	0.21801	0.0525	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.01039	-1.1472	10	0.39692	T	0.17	-15.9453	12.4262	0.55548	0.0:0.0:1.0:0.0	.	75	Q9P0V8	SLAF8_HUMAN	H	75	ENSP00000289707:R75H	ENSP00000289707:R75H	R	+	2	0	SLAMF8	158066463	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.231000	0.43009	2.296000	0.77279	0.313000	0.20887	CGC		0.607	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		15	217	0	0	0	1	0	15	217				
NALCN	259232	broad.mit.edu	37	13	101755543	101755543	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101755543C>T	ENST00000251127.6	-	26	3118	c.3037G>A	c.(3037-3039)Ggc>Agc	p.G1013S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1013					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G1013C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTGAAGCCGCTGAAAAGT	0.453																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.G1013C(1)	lung(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3037-3039)Ggc>Agc		sodium leak channel, non-selective							107.0	114.0	112.0					13																	101755543		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101755543C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3037G>A	13.37:g.101755543C>T	ENSP00000251127:p.Gly1013Ser						p.G1013S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			26	3118	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1013					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3037G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989463	0.93106	.	.	ENSG00000102452	ENST00000251127	D	0.97752	-4.52	5.03	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	N	0.16201	0.385	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.98750	1.0720	10	0.62326	D	0.03	.	18.7562	0.91833	0.0:1.0:0.0:0.0	.	1013	Q8IZF0	NALCN_HUMAN	S	1013	ENSP00000251127:G1013S	ENSP00000251127:G1013S	G	-	1	0	NALCN	100553544	1.000000	0.71417	0.978000	0.43139	0.924000	0.55760	7.345000	0.79337	2.488000	0.83962	0.650000	0.86243	GGC		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		8	149	0	0	0	1	0	8	149				
ZNF530	348327	broad.mit.edu	37	19	58117717	58117717	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58117717C>T	ENST00000332854.6	+	3	1044	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	275					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAAATCATTTAGTCGC	0.433																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(823-825)tCa>tTa		zinc finger protein 530							95.0	84.0	87.0					19																	58117717		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117717C>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.824C>T	19.37:g.58117717C>T	ENSP00000332861:p.Ser275Leu					ZNF530_ENST00000597864.1_Intron	p.S275L	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1044	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	275					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.824C>T	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107806	0.37242	.	.	ENSG00000183647	ENST00000332854	T	0.07800	3.16	1.62	-1.28	0.09318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	L	0.41027	1.25	0.09310	N	1	P	0.48089	0.905	B	0.36885	0.235	T	0.32079	-0.9920	9	0.46703	T	0.11	.	3.6699	0.08270	0.0:0.3922:0.2022:0.4056	.	275	Q6P9A1	ZN530_HUMAN	L	275	ENSP00000332861:S275L	ENSP00000332861:S275L	S	+	2	0	ZNF530	62809529	0.009000	0.17119	0.000000	0.03702	0.567000	0.35839	-2.328000	0.01112	-0.273000	0.09246	0.537000	0.68136	TCA		0.433	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		22	49	0	0	0	1	0	22	49				
NUTM1	256646	broad.mit.edu	37	15	34649163	34649163	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34649163C>T	ENST00000333756.4	+	7	3025	c.2870C>T	c.(2869-2871)aCa>aTa	p.T957I	NUTM1_ENST00000537011.1_Missense_Mutation_p.T985I|NUTM1_ENST00000438749.3_Missense_Mutation_p.T975I	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	957						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAGTCTTACACAACTGGGACT	0.483																																						ENST00000537011.1																			0											c.(2953-2955)aCa>aTa		NUT midline carcinoma, family member 1							58.0	54.0	55.0					15																	34649163		2201	4298	6499	SO:0001583	missense	256646							g.chr15:34649163C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2870C>T	15.37:g.34649163C>T	ENSP00000329448:p.Thr957Ile					NUTM1_ENST00000438749.3_Missense_Mutation_p.T975I|NUTM1_ENST00000333756.4_Missense_Mutation_p.T957I	p.T985I							8	3336	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	ENST00000333756.4	37	c.2954C>T	CCDS32190.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318889	0.23994	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.09163	3.01;3.02;3.01	4.74	2.84	0.33178	.	0.842078	0.10281	N	0.693479	T	0.12603	0.0306	L	0.50333	1.59	0.09310	N	1	B;B;B	0.32693	0.262;0.38;0.267	B;B;B	0.37267	0.124;0.245;0.116	T	0.30090	-0.9990	10	0.52906	T	0.07	.	6.3213	0.21219	0.0:0.7138:0.1863:0.0999	.	975;985;957	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	I	985;975;957	ENSP00000444896:T985I;ENSP00000407031:T975I;ENSP00000329448:T957I	ENSP00000329448:T957I	T	+	2	0	C15orf55	32436455	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.983000	0.29552	0.613000	0.30089	0.655000	0.94253	ACA		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		16	39	0	0	0	1	0	16	39				
DEGS2	123099	broad.mit.edu	37	14	100615918	100615918	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100615918A>G	ENST00000305631.5	-	2	787	c.212T>C	c.(211-213)tTc>tCc	p.F71S	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GTAGGCCCAGAACAGCAGCCA	0.706																																						ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(211-213)tTc>tCc		delta(4)-desaturase, sphingolipid 2							23.0	24.0	24.0					14																	100615918		2194	4290	6484	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615918A>G		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.212T>C	14.37:g.100615918A>G	ENSP00000307126:p.Phe71Ser					DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	p.F71S	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	787	-		Melanoma(154;0.212)	71						Missense_Mutation	SNP	ENST00000305631.5	37	c.212T>C	CCDS9956.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592900	0.86953	.	.	ENSG00000168350	ENST00000305631	T	0.16897	2.31	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50800	-0.8785	10	0.62326	D	0.03	-21.9002	13.8933	0.63753	1.0:0.0:0.0:0.0	.	71	Q6QHC5	DEGS2_HUMAN	S	71	ENSP00000307126:F71S	ENSP00000307126:F71S	F	-	2	0	DEGS2	99685671	1.000000	0.71417	0.988000	0.46212	0.866000	0.49608	9.171000	0.94802	1.748000	0.51833	0.459000	0.35465	TTC		0.706	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		6	19	0	0	0	1	0	6	19				
PNPLA7	375775	broad.mit.edu	37	9	140361795	140361795	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:140361795G>A	ENST00000277531.4	-	25	3124	c.2938C>T	c.(2938-2940)Cgg>Tgg	p.R980W	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R1005W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R586W	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	980	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGGATCCGCATCTGGCTG	0.677																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3013-3015)Cgg>Tgg		patatin-like phospholipase domain containing 7							107.0	78.0	88.0					9																	140361795		2202	4299	6501	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361795G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2938C>T	9.37:g.140361795G>A	ENSP00000277531:p.Arg980Trp					PNPLA7_ENST00000371457.1_Missense_Mutation_p.R586W|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.R980W	p.R1005W	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3349	-	all_cancers(76;0.126)		980			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3013C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938167	0.52972	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.41	2.23	0.28157	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.052297	0.85682	D	0.000000	T	0.39989	0.1099	L	0.58302	1.8	0.35402	D	0.791689	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.76071	0.987;0.987;0.978;0.948	T	0.46190	-0.9209	10	0.45353	T	0.12	-31.1625	6.8038	0.23766	0.092:0.0:0.3732:0.5348	.	388;1005;980;246	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	W	586;388;980;1005;980;971	ENSP00000360512:R586W;ENSP00000360501:R388W;ENSP00000277531:R980W;ENSP00000384610:R1005W;ENSP00000400582:R971W	ENSP00000277531:R980W	R	-	1	2	PNPLA7	139481616	0.649000	0.27322	0.177000	0.23020	0.597000	0.36814	1.921000	0.40035	0.629000	0.30376	0.561000	0.74099	CGG		0.677	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		13	32	0	0	0	1	0	13	32				
KIF1A	547	broad.mit.edu	37	2	241737144	241737144	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241737144G>A	ENST00000320389.7	-	2	184	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KIF1A_ENST00000498729.2_Missense_Mutation_p.A9V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	9	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACCCGCACCGCCACCTTCAC	0.597																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(25-27)gCg>gTg		kinesin family member 1A							29.0	34.0	32.0					2																	241737144		1984	4143	6127	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241737144G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.26C>T	2.37:g.241737144G>A	ENSP00000322791:p.Ala9Val					KIF1A_ENST00000320389.7_Missense_Mutation_p.A9V	p.A9V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	2	272	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	9			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.26C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	34	5.411323	0.96072	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000448728	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	4.78	4.78	0.61160	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.88051	0.6333	N	0.17278	0.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.951;0.993;0.996	D	0.87535	0.2455	10	0.31617	T	0.26	.	17.7694	0.88487	0.0:0.0:1.0:0.0	.	9;9;9	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	V	9	ENSP00000322791:A9V;ENSP00000438388:A9V;ENSP00000384231:A9V;ENSP00000398686:A9V	ENSP00000322791:A9V	A	-	2	0	KIF1A	241385817	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.474000	0.97718	2.360000	0.80028	0.467000	0.42956	GCG		0.597	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		6	24	0	0	0	1	0	6	24				
ABTB1	80325	broad.mit.edu	37	3	127396381	127396381	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127396381C>T	ENST00000232744.8	+	9	922	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ABTB1_ENST00000468137.1_Missense_Mutation_p.A137V|ABTB1_ENST00000393363.3_Missense_Mutation_p.A137V|ABTB1_ENST00000453791.2_Missense_Mutation_p.A137V					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TTCCGAGTGGCTGGCTGCAGC	0.632																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(409-411)gCt>gTt		ankyrin repeat and BTB (POZ) domain containing 1							77.0	80.0	79.0					3																	127396381		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396381C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.836C>T	3.37:g.127396381C>T	ENSP00000232744:p.Ala279Val					ABTB1_ENST00000393363.3_Missense_Mutation_p.A137V|ABTB1_ENST00000232744.8_Missense_Mutation_p.A279V|ABTB1_ENST00000453791.2_Missense_Mutation_p.A137V	p.A137V			Q969K4	ABTB1_HUMAN			8	1026	+			279			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.410C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211602	0.39102	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.17	3.25	0.37280	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.383837	0.31102	N	0.008248	T	0.23572	0.0570	M	0.80183	2.485	0.40388	D	0.979513	B;B	0.32010	0.351;0.178	B;B	0.26693	0.072;0.039	T	0.03315	-1.1049	10	0.38643	T	0.18	-25.1361	9.0482	0.36360	0.3674:0.5176:0.115:0.0	.	279;254	Q969K4;Q969K4-3	ABTB1_HUMAN;.	V	137;279;137;137	ENSP00000377030:A137V;ENSP00000232744:A279V;ENSP00000412684:A137V;ENSP00000417366:A137V	ENSP00000232744:A279V	A	+	2	0	ABTB1	128879071	0.869000	0.29996	0.417000	0.26559	0.668000	0.39293	1.811000	0.38942	0.468000	0.27243	0.591000	0.81541	GCT		0.632	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		24	81	0	0	0	1	0	24	81				
MYOF	26509	broad.mit.edu	37	10	95115421	95115421	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:95115421C>T	ENST00000359263.4	-	31	3366	c.3367G>A	c.(3367-3369)Gga>Aga	p.G1123R	MYOF_ENST00000371501.4_Missense_Mutation_p.G1123R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1110R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1123R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1123					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGTTTGCTCCGAACACAGTG	0.408																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3367-3369)Gga>Aga		myoferlin							180.0	173.0	175.0					10																	95115421		1860	4096	5956	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95115421C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3367G>A	10.37:g.95115421C>T	ENSP00000352208:p.Gly1123Arg					MYOF_ENST00000371502.4_Missense_Mutation_p.G1123R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1123R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1110R	p.G1123R			Q9NZM1	MYOF_HUMAN			31	3489	-			1123					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3367G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438150	0.83885	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83591	-1.74;-1.74;-1.73;-1.73	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88310	0.6402	L	0.52126	1.63	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.60012	0.867;0.569	D	0.87747	0.2589	10	0.56958	D	0.05	-20.2234	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1110;1123	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1110;1123;1123;1123	ENSP00000351094:G1110R;ENSP00000352208:G1123R;ENSP00000360556:G1123R;ENSP00000360557:G1123R	ENSP00000351094:G1110R	G	-	1	0	MYOF	95105411	1.000000	0.71417	0.991000	0.47740	0.771000	0.43674	7.412000	0.80091	2.815000	0.96918	0.561000	0.74099	GGA		0.408	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		6	246	0	0	0	1	0	6	246				
C9orf24	84688	broad.mit.edu	37	9	34381368	34381368	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34381368G>A	ENST00000297623.2	-	4	669	c.471C>T	c.(469-471)taC>taT	p.Y157Y	C9orf24_ENST00000379133.3_Splice_Site_p.Y22Y|C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Splice_Site_p.Y22Y|C9orf24_ENST00000379126.3_Splice_Site_p.Y22Y|C9orf24_ENST00000379124.1_Splice_Site_p.Y22Y	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	157					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		ACTCTTTACCGTAGGCATTGA	0.627																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.e4+1		chromosome 9 open reading frame 24							143.0	130.0	135.0					9																	34381368		2203	4300	6503	SO:0001630	splice_region_variant	84688							g.chr9:34381368G>A	BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.472+1C>T	9.37:g.34381368G>A						C9orf24_ENST00000379124.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379127.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379133.3_Splice_Site_p.Y22_splice|C9orf24_ENST00000379126.3_Splice_Site_p.Y22_splice	p.Y157_splice	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	669	-			157					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Splice_Site	SNP	ENST00000297623.2	37	c.472_splice	CCDS6554.1																																																																																				0.627	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169	Silent	55	135	0	0	0	1	0	55	135				
IGKV1D-16	28901	broad.mit.edu	37	2	90139530	90139530	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:90139530C>T	ENST00000492446.1	+	0	328									immunoglobulin kappa variable 1D-16																		CAGCAGCCTGCAGCCTGAAGA	0.493																																						ENST00000492446.1																			0																				44.0	47.0	46.0					2																	90139530		1794	4029	5823			0							g.chr2:90139530C>T	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139530C>T														0	328	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.493	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		59	100	0	0	0	1	0	59	100				
ABCA1	19	broad.mit.edu	37	9	107602600	107602600	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:107602600G>A	ENST00000374736.3	-	9	1408	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	338					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTTCCTCAGTGCCATTGCCTC	0.542																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1012-1014)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						128.0	99.0	109.0					9																	107602600		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107602600G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1014C>T	9.37:g.107602600G>A							p.G338G	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	9	1408	-			338					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.1014C>T	CCDS6762.1																																																																																				0.542	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	72	0	0	0	1	0	6	72				
PWWP2B	170394	broad.mit.edu	37	10	134218871	134218871	+	Silent	SNP	C	C	T	rs145952219	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:134218871C>T	ENST00000305233.5	+	2	926	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PWWP2B_ENST00000368609.4_Silent_p.D289D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	289										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGCAGGACGACGGCAGCCAGG	0.701													C|||	2	0.000399361	0.0	0.0014	5008	,	,		13205	0.0		0.001	False		,,,				2504	0.0					ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(865-867)gaC>gaT		PWWP domain containing 2B		C	,	0,4320		0,0,2160	15.0	21.0	19.0		867,867	-7.8	0.0	10	dbSNP_134	19	7,8499		0,7,4246	no	coding-synonymous,coding-synonymous	PWWP2B	NM_001098637.1,NM_138499.3	,	0,7,6406	TT,TC,CC		0.0823,0.0,0.0546	,	289/500,289/591	134218871	7,12819	2160	4253	6413	SO:0001819	synonymous_variant	170394							g.chr10:134218871C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.867C>T	10.37:g.134218871C>T						PWWP2B_ENST00000368609.4_Silent_p.D289D	p.D289D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	926	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	289					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.867C>T	CCDS7667.2																																																																																				0.701	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		16	48	0	0	0	1	0	16	48				
GPR111	222611	broad.mit.edu	37	6	47649198	47649198	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:47649198C>T	ENST00000296862.1	+	6	903	c.903C>T	c.(901-903)aaC>aaT	p.N301N	GPR111_ENST00000398742.2_Silent_p.N233N|GPR111_ENST00000507065.1_Silent_p.N233N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	301					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGAGATAACATTGGAAAAA	0.388																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(697-699)aaC>aaT		G protein-coupled receptor 111							121.0	114.0	116.0					6																	47649198		1879	4117	5996	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649198C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.903C>T	6.37:g.47649198C>T						GPR111_ENST00000507065.1_Silent_p.N233N|GPR111_ENST00000296862.1_Silent_p.N301N	p.N233N			Q8IZF7	GP111_HUMAN			5	748	+			301					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.699C>T																																																																																					0.388	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		33	82	0	0	0	1	0	33	82				
RPTN	126638	broad.mit.edu	37	1	152127348	152127348	+	Nonsense_Mutation	SNP	G	G	A	rs184952075	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152127348G>A	ENST00000316073.3	-	3	2291	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	743	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTCGTCTCTGATGG	0.522													G|||	7	0.00139776	0.0045	0.0	5008	,	,		23174	0.001		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2227-2229)Cga>Tga		repetin		G	stop/ARG	4,3132		0,4,1564	672.0	529.0	572.0		2227	-2.4	0.0	1		572	0,7164		0,0,3582	yes	stop-gained	RPTN	NM_001122965.1		0,4,5146	AA,AG,GG		0.0,0.1276,0.0388		743/785	152127348	4,10296	1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127348G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2227C>T	1.37:g.152127348G>A	ENSP00000317895:p.Arg743*						p.R743*	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	2291	-			743			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.2227C>T	CCDS41397.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	38	6.683695	0.97759	0.001276	0.0	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	5.34	-2.44	0.06502	.	2.380830	0.02815	U	0.124824	.	.	.	.	.	.	0.29293	N	0.869223	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	6.6747	4.2225	0.10565	0.0767:0.1986:0.1794:0.5454	.	.	.	.	X	743;398	.	ENSP00000317895:R743X	R	-	1	2	RPTN	150393972	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	0.047000	0.14056	-0.877000	0.04012	0.551000	0.68910	CGA		0.522	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	401	0	0	0	1	0	6	401				
CACNA1D	776	broad.mit.edu	37	3	53785896	53785896	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53785896G>A	ENST00000350061.5	+	28	4148	c.3637G>A	c.(3637-3639)Gtc>Atc	p.V1213I	CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1233I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V120I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1213I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1213					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGATGTTTGTCCTCATCAT	0.527																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3697-3699)Gtc>Atc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						248.0	208.0	222.0					3																	53785896		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785896G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3637G>A	3.37:g.53785896G>A	ENSP00000288133:p.Val1213Ile					CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1213I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V120I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1213I	p.V1233I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3815	+			1213					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3697G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000627	0.54254	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.92	5.92	0.95590	.	0.071037	0.56097	D	0.000029	D	0.93949	0.8063	L	0.35593	1.075	0.80722	D	1	B;B;B;B;B	0.32620	0.076;0.002;0.009;0.017;0.378	B;B;B;B;B	0.33750	0.081;0.007;0.022;0.013;0.169	D	0.91970	0.5586	10	0.33141	T	0.24	.	13.5092	0.61502	0.0709:0.0:0.929:0.0	.	1213;120;906;1213;1233	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	I	1213;1233;1213;906;120	ENSP00000288133:V1213I;ENSP00000288139:V1233I;ENSP00000409174:V1213I;ENSP00000418014:V906I;ENSP00000438229:V120I	ENSP00000288139:V1233I	V	+	1	0	CACNA1D	53760936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.906000	0.63293	2.804000	0.96469	0.655000	0.94253	GTC		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		17	197	0	0	0	1	0	17	197				
ANKFN1	162282	broad.mit.edu	37	17	54526456	54526456	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:54526456C>T	ENST00000318698.2	+	10	1160	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	ANKFN1_ENST00000566473.2_Silent_p.D375D	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGACTATGACGACAGAGAGC	0.483																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1123-1125)gaC>gaT		ankyrin-repeat and fibronectin type III domain containing 1							103.0	103.0	103.0					17																	54526456		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54526456C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1125C>T	17.37:g.54526456C>T						ANKFN1_ENST00000318698.2_Silent_p.D375D	p.D375D			Q8N957	ANKF1_HUMAN			10	1125	+			375						Silent	SNP	ENST00000318698.2	37	c.1125C>T	CCDS32686.1																																																																																				0.483	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		16	52	0	0	0	1	0	16	52				
ETV1	2115	broad.mit.edu	37	7	13949263	13949263	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:13949263A>T	ENST00000430479.1	-	11	1601	c.934T>A	c.(934-936)Ttc>Atc	p.F312I	ETV1_ENST00000405358.4_Missense_Mutation_p.F326I|ETV1_ENST00000420159.2_Missense_Mutation_p.F254I|ETV1_ENST00000405218.2_Missense_Mutation_p.F312I|ETV1_ENST00000242066.5_Missense_Mutation_p.F294I|ETV1_ENST00000403527.1_Missense_Mutation_p.F272I|ETV1_ENST00000399357.3_Missense_Mutation_p.F209I|ETV1_ENST00000343495.5_Missense_Mutation_p.F294I|ETV1_ENST00000405192.2_Missense_Mutation_p.F289I|ETV1_ENST00000403685.1_Missense_Mutation_p.F294I|ETV1_ENST00000476720.2_5'Flank	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	312					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTACCATCGAATTTTTCTGGG	0.383			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(880-882)Ttc>Atc		ets variant 1							108.0	106.0	107.0					7																	13949263		1825	4076	5901	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13949263A>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.934T>A	7.37:g.13949263A>T	ENSP00000405327:p.Phe312Ile					ETV1_ENST00000430479.1_Missense_Mutation_p.F312I|ETV1_ENST00000405218.2_Missense_Mutation_p.F312I|ETV1_ENST00000403685.1_Missense_Mutation_p.F294I|ETV1_ENST00000405192.2_Missense_Mutation_p.F289I|ETV1_ENST00000399357.3_Missense_Mutation_p.F209I|ETV1_ENST00000242066.5_Missense_Mutation_p.F294I|ETV1_ENST00000420159.2_Missense_Mutation_p.F254I|ETV1_ENST00000403527.1_Missense_Mutation_p.F272I|ETV1_ENST00000405358.4_Missense_Mutation_p.F326I	p.F294I			P50549	ETV1_HUMAN			10	1618	-			312					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.880T>A	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851588	0.91355	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.98	5.98	0.97165	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.153108	0.64402	D	0.000014	T	0.49064	0.1535	M	0.61703	1.905	0.39563	D	0.969163	B;B;D;D;B;D;B	0.64830	0.27;0.108;0.961;0.992;0.24;0.994;0.372	B;B;P;D;B;D;B	0.75020	0.085;0.055;0.621;0.974;0.209;0.985;0.14	T	0.46048	-0.9219	10	0.45353	T	0.12	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	300;294;326;254;209;272;312	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	I	312;294;294;254;209;289;326;272;312;294;254	ENSP00000405327:F312I;ENSP00000242066:F294I;ENSP00000340853:F294I;ENSP00000411626:F254I;ENSP00000382293:F209I;ENSP00000385381:F289I;ENSP00000384085:F326I;ENSP00000384138:F272I;ENSP00000385551:F312I;ENSP00000385686:F294I;ENSP00000393078:F254I	ENSP00000242066:F294I	F	-	1	0	ETV1	13915788	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.641000	0.67881	2.289000	0.77006	0.482000	0.46254	TTC		0.383	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		6	140	0	0	0	1	0	6	140				
NUDCD3	23386	broad.mit.edu	37	7	44431997	44431997	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44431997G>A	ENST00000355451.7	-	5	1153	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	292										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCCATGGAGCGCTCCTTGTTG	0.572																																						ENST00000355451.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(874-876)Cgc>Tgc		NudC domain containing 3							280.0	241.0	255.0					7																	44431997		2203	4300	6503	SO:0001583	missense	23386							g.chr7:44431997G>A	BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.874C>T	7.37:g.44431997G>A	ENSP00000347626:p.Arg292Cys					NUDCD3_ENST00000460110.1_5'UTR	p.R292C	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN			5	1153	-			292					Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	ENST00000355451.7	37	c.874C>T	CCDS5490.2	.	.	.	.	.	.	.	.	.	.	G	33	5.196914	0.94960	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.57752	0.38	4.91	4.91	0.64330	HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76383	-0.2979	10	0.87932	D	0	-17.5888	18.233	0.89939	0.0:0.0:1.0:0.0	.	292	Q8IVD9	NUDC3_HUMAN	C	292;48	ENSP00000347626:R292C	ENSP00000345922:R48C	R	-	1	0	NUDCD3	44398522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.276000	0.95745	2.706000	0.92434	0.655000	0.94253	CGC		0.572	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251248.3	NM_015332		47	119	0	0	0	1	0	47	119				
HIRIP3	8479	broad.mit.edu	37	16	30002649	30002649	+	IGR	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30002649G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.P970P	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GGCGTCAGCCGTCTCTGCTGG	0.711																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2908-2910)ccG>ccA		TAO kinase 2							14.0	17.0	16.0					16																	30002649		2181	4255	6436	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002649G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002649G>A							p.P970P	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			19	3313	+			859			Leu-rich.		H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.2910G>A	CCDS10664.1																																																																																				0.711	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		4	45	0	0	0	1	0	4	45				
ARAP1	116985	broad.mit.edu	37	11	72420933	72420933	+	Missense_Mutation	SNP	G	G	A	rs544298839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72420933G>A	ENST00000393609.3	-	11	1707	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ARAP1_ENST00000426523.1_Missense_Mutation_p.T257M|ARAP1_ENST00000393605.3_Missense_Mutation_p.T262M|ARAP1_ENST00000359373.5_Missense_Mutation_p.T502M|ARAP1_ENST00000455638.2_Missense_Mutation_p.T502M|ARAP1_ENST00000429686.1_Missense_Mutation_p.T257M|ARAP1_ENST00000334211.8_Missense_Mutation_p.T257M	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	502	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCGGTAGGGCGTGGTGAGGTC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19134	0.0		0.0	False		,,,				2504	0.0				Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1504-1506)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							264.0	187.0	213.0					11																	72420933		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72420933G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1505C>T	11.37:g.72420933G>A	ENSP00000377233:p.Thr502Met					ARAP1_ENST00000429686.1_Missense_Mutation_p.T257M|ARAP1_ENST00000393609.3_Missense_Mutation_p.T502M|ARAP1_ENST00000455638.2_Missense_Mutation_p.T502M|ARAP1_ENST00000393605.3_Missense_Mutation_p.T262M|ARAP1_ENST00000334211.8_Missense_Mutation_p.T257M|ARAP1_ENST00000426523.1_Missense_Mutation_p.T257M	p.T502M			Q96P48	ARAP1_HUMAN			11	2356	-			502			PH 2.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1505C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500225	0.85176	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.29	4.29	0.51040	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	M	0.75615	2.305	0.47737	D	0.999503	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0	D;D;P;D;D	0.85130	0.948;0.997;0.903;0.948;0.977	D	0.84102	0.0396	10	0.87932	D	0	.	15.5033	0.75716	0.0:0.0:1.0:0.0	.	257;257;502;502;262	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	M	502;502;262;257;502;257;257;291	ENSP00000352332:T502M;ENSP00000390461:T502M;ENSP00000377230:T262M;ENSP00000335506:T257M;ENSP00000377233:T502M;ENSP00000392264:T257M;ENSP00000403127:T257M	ENSP00000335506:T257M	T	-	2	0	ARAP1	72098581	1.000000	0.71417	0.984000	0.44739	0.908000	0.53690	9.607000	0.98328	2.196000	0.70406	0.563000	0.77884	ACG		0.587	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		27	78	0	0	0	1	0	27	78				
ZNF79	7633	broad.mit.edu	37	9	130198257	130198257	+	Silent	SNP	C	C	T	rs148235940		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130198257C>T	ENST00000342483.5	+	4	709	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF79_ENST00000543471.1_Silent_p.G77G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	101	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TGCTGGAGGGCGAAGACCTGC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20752	0.001		0.0	False		,,,				2504	0.0					ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(301-303)ggC>ggT		zinc finger protein 79		C		0,4406		0,0,2203	112.0	103.0	106.0		303	1.3	0.0	9	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF79	NM_007135.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		101/499	130198257	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130198257C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.303C>T	9.37:g.130198257C>T						ZNF79_ENST00000543471.1_Silent_p.G77G	p.G101G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			4	709	+			101			KRAB.		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.303C>T	CCDS6871.1																																																																																				0.507	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		7	111	0	0	0	1	0	7	111				
PCBP4	57060	broad.mit.edu	37	3	51993254	51993254	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51993254C>T	ENST00000461554.1	-	11	1022	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PCBP4_ENST00000484633.1_Missense_Mutation_p.V188M|PCBP4_ENST00000355852.2_Missense_Mutation_p.V231M|PCBP4_ENST00000322099.7_Missense_Mutation_p.V231M|PCBP4_ENST00000428823.2_Missense_Mutation_p.V188M|PCBP4_ENST00000395013.3_Missense_Mutation_p.V71M|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000395014.2_Missense_Mutation_p.V252M|PCBP4_ENST00000471622.1_Missense_Mutation_p.V231M	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	231						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTGGCACCACGCTGGGTGTG	0.627																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(691-693)Gtg>Atg		poly(rC) binding protein 4							74.0	64.0	68.0					3																	51993254		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51993254C>T	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.691G>A	3.37:g.51993254C>T	ENSP00000417196:p.Val231Met					PCBP4_ENST00000484633.1_Missense_Mutation_p.V188M|PCBP4_ENST00000395014.2_Missense_Mutation_p.V252M|PCBP4_ENST00000471622.1_Missense_Mutation_p.V231M|PCBP4_ENST00000355852.2_Missense_Mutation_p.V231M|PCBP4_ENST00000395013.3_Missense_Mutation_p.V71M|PCBP4_ENST00000428823.2_Missense_Mutation_p.V188M|PCBP4_ENST00000322099.7_Missense_Mutation_p.V231M	p.V231M	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	1022	-			231					Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.691G>A	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037305	0.35989	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	T;T;T;T;T;T;T;T	0.34859	1.45;1.45;1.45;1.4;1.34;1.4;1.43;1.92	4.1	3.18	0.36537	.	0.254038	0.36134	N	0.002773	T	0.24890	0.0604	L	0.40543	1.245	0.34038	D	0.654662	B;B;B;B;B;B	0.28552	0.03;0.063;0.159;0.076;0.215;0.027	B;B;B;B;B;B	0.23852	0.009;0.032;0.018;0.012;0.049;0.006	T	0.26643	-1.0097	10	0.33141	T	0.24	-4.8136	6.9684	0.24635	0.0:0.8545:0.0:0.1455	.	231;188;71;231;252;197	C9J0A4;P57723-2;B3KM64;P57723;Q9GZT1;Q9HCU2	.;.;.;PCBP4_HUMAN;.;.	M	231;231;231;188;71;188;252;231;231	ENSP00000348111:V231M;ENSP00000322341:V231M;ENSP00000417196:V231M;ENSP00000417100:V188M;ENSP00000378460:V71M;ENSP00000395030:V188M;ENSP00000378461:V252M;ENSP00000418925:V231M	ENSP00000294192:V231M	V	-	1	0	PCBP4	51968294	0.979000	0.34478	0.913000	0.36048	0.323000	0.28346	0.948000	0.29096	0.985000	0.38656	0.563000	0.77884	GTG		0.627	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		19	60	0	0	0	1	0	19	60				
TANC2	26115	broad.mit.edu	37	17	61492927	61492927	+	Silent	SNP	C	C	T	rs191181540		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61492927C>T	ENST00000424789.2	+	23	3811	c.3807C>T	c.(3805-3807)taC>taT	p.Y1269Y	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Silent_p.Y1279Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1269					in utero embryonic development (GO:0001701)			p.Y1279*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTACCAGTACGCCCTGAAGA	0.512																																						ENST00000424789.2																			2	Substitution - Nonsense(2)	p.Y1279*(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(3805-3807)taC>taT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2		C		0,3862		0,0,1931	88.0	86.0	87.0		3807	-2.3	1.0	17		87	1,8293		0,1,4146	no	coding-synonymous	TANC2	NM_025185.3		0,1,6077	TT,TC,CC		0.0121,0.0,0.0082		1269/1991	61492927	1,12155	1931	4147	6078	SO:0001819	synonymous_variant	26115						binding	g.chr17:61492927C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3807C>T	17.37:g.61492927C>T						TANC2_ENST00000389520.4_Silent_p.Y1279Y|RP11-269G24.3_ENST00000583552.1_RNA	p.Y1269Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			23	3811	+			1269					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.3807C>T	CCDS45754.1																																																																																				0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			11	32	0	0	0	1	0	11	32				
AJAP1	55966	broad.mit.edu	37	1	4772604	4772604	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:4772604C>T	ENST00000378191.4	+	2	1055	c.674C>T	c.(673-675)aCg>aTg	p.T225M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T225M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		accaccaccacggccaccccc	0.612																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(673-675)aCg>aTg		adherens junctions associated protein 1							32.0	32.0	32.0					1																	4772604		2203	4299	6502	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772604C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.674C>T	1.37:g.4772604C>T	ENSP00000367433:p.Thr225Met					AJAP1_ENST00000378190.3_Missense_Mutation_p.T225M	p.T225M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1055	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	225			Thr-rich.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.674C>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800794	0.31869	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.44482	0.92;0.92	5.35	0.979	0.19745	.	0.860025	0.09946	N	0.735301	T	0.23532	0.0569	N	0.24115	0.695	0.27814	N	0.942035	P	0.41345	0.746	B	0.34180	0.177	T	0.11767	-1.0574	10	0.45353	T	0.12	0.5229	5.7529	0.18156	0.0:0.5661:0.1574:0.2765	.	225	Q9UKB5	AJAP1_HUMAN	M	225	ENSP00000367432:T225M;ENSP00000367433:T225M	ENSP00000367432:T225M	T	+	2	0	AJAP1	4672464	0.994000	0.37717	0.441000	0.26858	0.916000	0.54674	0.557000	0.23454	0.249000	0.21456	0.467000	0.42956	ACG		0.612	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		17	35	0	0	0	1	0	17	35				
KCNMA1	3778	broad.mit.edu	37	10	78647236	78647236	+	Missense_Mutation	SNP	C	C	T	rs376264061		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:78647236C>T	ENST00000286628.8	-	28	3498	c.3499G>A	c.(3499-3501)Gtg>Atg	p.V1167M	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136M|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150M|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.V1109M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171M	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1167					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCCGTCGGCACGAGCTCAAAC	0.547																																						ENST00000286627.5																			2	Substitution - Missense(2)	p.V1109L(1)|p.V1171L(1)	lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3325-3327)Gtg>Atg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	74.0	66.0	69.0		3337,3499,3448,3325	4.4	1.0	10		69	0,8600		0,0,4300	no	missense,missense,missense,missense	KCNMA1	NM_001014797.2,NM_001161352.1,NM_001161353.1,NM_002247.3	21,21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	1113/1183,1167/1237,1150/1220,1109/1179	78647236	1,13005	2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647236C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3499G>A	10.37:g.78647236C>T	ENSP00000286628:p.Val1167Met					KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171M|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V1167M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136M	p.V1109M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4277	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1167					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3325G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.05|16.05	3.013173|3.013173	0.54468|0.54468	2.27E-4|2.27E-4	0.0|0.0	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.84660	.|-1.86;-1.88;-1.84;-1.85;-1.87;-1.86;-1.85;-1.86;-1.86	5.3|5.3	4.36|4.36	0.52297|0.52297	.|.	.|0.058045	.|0.64402	.|D	.|0.000002	D|D	0.84160|0.84160	0.5411|0.5411	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999995|0.999995	.|D;B;B;B;B;B;B;B	.|0.63046	.|0.992;0.148;0.194;0.07;0.385;0.016;0.33;0.092	.|P;B;B;B;B;B;B;B	.|0.54664	.|0.758;0.03;0.027;0.019;0.066;0.004;0.04;0.03	D|D	0.85588|0.85588	0.1244|0.1244	5|10	.|0.51188	.|T	.|0.08	-11.6894|-11.6894	15.9351|15.9351	0.79698|0.79698	0.0:0.865:0.1349:0.0|0.0:0.865:0.1349:0.0	.|.	.|1138;1139;1150;1167;1109;920;1170;1136	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	H|M	1097;816|1109;1046;1102;1141;1104;1136;1109;1141;1171;1170;1150;920	.|ENSP00000361517:V1109M;ENSP00000361485:V1046M;ENSP00000361514:V1102M;ENSP00000396608:V1141M;ENSP00000361520:V1136M;ENSP00000286627:V1109M;ENSP00000385552:V1171M;ENSP00000346321:V1170M;ENSP00000385806:V1150M	.|ENSP00000286627:V1109M	R|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78317242|78317242	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.933000|0.933000	0.57130|0.57130	4.672000|4.672000	0.61597|0.61597	2.484000|2.484000	0.83849|0.83849	0.460000|0.460000	0.39030|0.39030	CGT|GTG		0.547	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		24	55	0	0	0	1	0	24	55				
PCSK5	5125	broad.mit.edu	37	9	78686713	78686713	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:78686713G>A	ENST00000545128.1	+	7	1331	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	PCSK5_ENST00000376752.4_Missense_Mutation_p.V265M|PCSK5_ENST00000376767.3_Missense_Mutation_p.V265M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	265	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCCAGCACGTGCACATTTA	0.542																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(793-795)Gtg>Atg		proprotein convertase subtilisin/kexin type 5							130.0	133.0	132.0					9																	78686713		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686713G>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.793G>A	9.37:g.78686713G>A	ENSP00000446280:p.Val265Met					PCSK5_ENST00000376767.3_Missense_Mutation_p.V265M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V265M	p.V265M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1331	+			265			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.793G>A	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420485	0.83559	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.82526	-1.62;-1.62;-1.62	5.66	5.66	0.87406	.	.	.	.	.	D	0.86406	0.5925	L	0.55743	1.74	0.39871	D	0.973518	D;D	0.67145	0.98;0.996	P;D	0.65874	0.866;0.939	D	0.87270	0.2285	9	0.87932	D	0	.	7.4001	0.26958	0.1997:0.0:0.8003:0.0	.	265;265	Q92824-2;B1AMG5	.;.	M	265	ENSP00000446280:V265M;ENSP00000365958:V265M;ENSP00000365943:V265M	ENSP00000365943:V265M	V	+	1	0	PCSK5	77876533	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	5.745000	0.68672	2.672000	0.90937	0.655000	0.94253	GTG		0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	232	0	0	0	1	0	5	232				
GPR158	57512	broad.mit.edu	37	10	25886833	25886833	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:25886833G>A	ENST00000376351.3	+	11	2637	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	760					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGCATTACGGAGATCCCAGA	0.532																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2278-2280)Gag>Aag		G protein-coupled receptor 158							100.0	112.0	108.0					10																	25886833		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886833G>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2278G>A	10.37:g.25886833G>A	ENSP00000365529:p.Glu760Lys					GPR158_ENST00000490549.1_3'UTR	p.E760K	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2637	+			760					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2278G>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439428	0.96168	.	.	ENSG00000151025	ENST00000376351	T	0.67523	-0.27	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000004	T	0.82042	0.4951	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82478	-0.0437	10	0.56958	D	0.05	.	19.4771	0.94994	0.0:0.0:1.0:0.0	.	760	Q5T848	GP158_HUMAN	K	760	ENSP00000365529:E760K	ENSP00000365529:E760K	E	+	1	0	GPR158	25926839	1.000000	0.71417	0.902000	0.35471	0.673000	0.39480	9.476000	0.97823	2.606000	0.88127	0.650000	0.86243	GAG		0.532	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		4	169	0	0	0	1	0	4	169				
HMGB1P5	10354	broad.mit.edu	37	3	22424048	22424048	+	RNA	SNP	G	G	T	rs11917328		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:22424048G>T	ENST00000451497.1	+	0	613									high mobility group box 1 pseudogene 5																		AATGTAAGGCGGTGTAAGATT	0.333																																						ENST00000451497.1																			0																																																			0							g.chr3:22424048G>T	AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424048G>T														0	613	+									RNA	SNP	ENST00000451497.1	37																																																																																						0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340803.1	NG_000897		4	25	1	0	0.000602214	1	0.000612978	4	25				
RNF212	285498	broad.mit.edu	37	4	1067393	1067393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1067393G>A	ENST00000433731.2	-	9	629	c.568C>T	c.(568-570)Cga>Tga	p.R190*	RNF212_ENST00000382968.5_Nonsense_Mutation_p.R190*			Q495C1	RN212_HUMAN	ring finger protein 212	190					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTACCCATTCGTCCATCTTGA	0.413											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000382968.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(568-570)Cga>Tga		ring finger protein 212							116.0	107.0	110.0					4																	1067393		2203	4300	6503	SO:0001587	stop_gained	285498						zinc ion binding	g.chr4:1067393G>A	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.568C>T	4.37:g.1067393G>A	ENSP00000389709:p.Arg190*		OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	593	RNF212_ENST00000433731.2_Nonsense_Mutation_p.R190*	p.R190*	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	9	665	-			190					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Nonsense_Mutation	SNP	ENST00000433731.2	37	c.568C>T	CCDS46996.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556999	0.96514	.	.	ENSG00000178222	ENST00000382968;ENST00000433731	.	.	.	3.96	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6028	0.28085	0.119:0.0:0.881:0.0	.	.	.	.	X	190	.	ENSP00000372428:R190X	R	-	1	2	RNF212	1057393	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.200000	0.58433	0.981000	0.38548	-0.136000	0.14681	CGA		0.413	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	NM_194439		14	36	0	0	0	1	0	14	36				
LPCAT4	254531	broad.mit.edu	37	15	34657848	34657848	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34657848C>T	ENST00000314891.6	-	2	346	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	57					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGAAAGAGGACGATAAAGGCC	0.552																																						ENST00000314891.6																			0				NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						c.(169-171)Gtc>Atc		lysophosphatidylcholine acyltransferase 4							77.0	78.0	78.0					15																	34657848		2201	4298	6499	SO:0001583	missense	254531				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding	g.chr15:34657848C>T	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.169G>A	15.37:g.34657848C>T	ENSP00000317300:p.Val57Ile					LPCAT4_ENST00000562431.1_5'UTR	p.V57I	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN			2	346	-			57					A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	ENST00000314891.6	37	c.169G>A	CCDS32191.1	.	.	.	.	.	.	.	.	.	.	.	11.73	1.726680	0.30593	.	.	ENSG00000176454	ENST00000314891	T	0.81163	-1.46	5.76	3.9	0.45041	.	0.159570	0.53938	N	0.000042	T	0.60495	0.2273	N	0.19112	0.55	0.29977	N	0.818057	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.48547	-0.9026	10	0.07175	T	0.84	-14.4833	6.2842	0.21023	0.1489:0.6963:0.0:0.1548	.	57;57	B7ZM32;Q643R3	.;LPCT4_HUMAN	I	57	ENSP00000317300:V57I	ENSP00000317300:V57I	V	-	1	0	LPCAT4	32445140	0.211000	0.23529	0.995000	0.50966	0.996000	0.88848	0.229000	0.17833	0.798000	0.33994	0.555000	0.69702	GTC		0.552	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418028.2	NM_153613		18	31	0	0	0	1	0	18	31				
TRIO	7204	broad.mit.edu	37	5	14366990	14366990	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:14366990G>A	ENST00000344204.4	+	16	2800	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R	TRIO_ENST00000509967.2_Missense_Mutation_p.G877R|TRIO_ENST00000537187.1_Missense_Mutation_p.G926R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	926					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCCGCAACGGAGAGTCCAT	0.537																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2776-2778)Gga>Aga		trio Rho guanine nucleotide exchange factor							143.0	131.0	135.0					5																	14366990		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14366990G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2776G>A	5.37:g.14366990G>A	ENSP00000339299:p.Gly926Arg					TRIO_ENST00000537187.1_Missense_Mutation_p.G926R|TRIO_ENST00000509967.2_Missense_Mutation_p.G877R	p.G926R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			16	2800	+	Lung NSC(4;0.000742)		926					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2776G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.587028	0.86851	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.48201	0.82;0.82;0.82	5.91	5.91	0.95273	.	0.052179	0.85682	D	0.000000	T	0.65954	0.2741	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.966;1.0	T	0.58370	-0.7648	10	0.31617	T	0.26	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	877;926;926	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	R	926;926;877;613	ENSP00000339299:G926R;ENSP00000446348:G926R;ENSP00000445592:G877R	ENSP00000339299:G926R	G	+	1	0	TRIO	14419990	1.000000	0.71417	0.820000	0.32676	0.982000	0.71751	9.787000	0.99055	2.793000	0.96121	0.655000	0.94253	GGA		0.537	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		28	106	0	0	0	1	0	28	106				
XYLT1	64131	broad.mit.edu	37	16	17252746	17252746	+	Missense_Mutation	SNP	G	G	A	rs192917273	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:17252746G>A	ENST00000261381.6	-	6	1394	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	437					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGAGAAACGCCACCAACTG	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20700	0.002		0.0	False		,,,				2504	0.0					ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1309-1311)gCg>gTg		xylosyltransferase I							95.0	89.0	91.0					16																	17252746		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17252746G>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1310C>T	16.37:g.17252746G>A	ENSP00000261381:p.Ala437Val						p.A437V	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			6	1394	-			437					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1310C>T	CCDS10569.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.8	5.033070	0.93575	.	.	ENSG00000103489	ENST00000261381	T	0.11930	2.73	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.01030	-1.1475	10	0.33141	T	0.24	-15.6108	17.4172	0.87504	0.0:0.0:1.0:0.0	.	437	Q86Y38	XYLT1_HUMAN	V	437	ENSP00000261381:A437V	ENSP00000261381:A437V	A	-	2	0	XYLT1	17160247	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	6.857000	0.75455	2.398000	0.81561	0.563000	0.77884	GCG		0.488	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		32	45	0	0	0	1	0	32	45				
IQSEC1	9922	broad.mit.edu	37	3	12977620	12977620	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12977620G>A	ENST00000273221.4	-	3	1154	c.938C>T	c.(937-939)tCg>tTg	p.S313L	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	313					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGGGGGCGACAGCTCCTC	0.677																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(937-939)tCg>tTg		IQ motif and Sec7 domain 1							51.0	55.0	54.0					3																	12977620		2203	4299	6502	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977620G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.938C>T	3.37:g.12977620G>A	ENSP00000273221:p.Ser313Leu						p.S313L	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	1154	-			313					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.938C>T	CCDS33703.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649346	0.67358	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.43294	0.95;0.95	4.86	4.86	0.63082	.	0.208477	0.42964	D	0.000630	T	0.57946	0.2088	.	.	.	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.68039	0.909;0.955;0.876	T	0.55289	-0.8164	9	0.36615	T	0.2	.	11.6187	0.51104	0.0813:0.0:0.9187:0.0	.	299;299;313	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	L	313;299;299	ENSP00000273221:S313L;ENSP00000402299:S299L	ENSP00000273221:S313L	S	-	2	0	IQSEC1	12952620	1.000000	0.71417	0.956000	0.39512	0.411000	0.31082	9.275000	0.95738	2.515000	0.84797	0.655000	0.94253	TCG		0.677	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		45	93	0	0	0	1	0	45	93				
EVPL	2125	broad.mit.edu	37	17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T	rs200693370		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:74003402C>T	ENST00000301607.3	-	22	6137	c.5884G>A	c.(5884-5886)Ggg>Agg	p.G1962R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1984R|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1962	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGATCATCCCGGAGAGGAGG	0.627																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5884-5886)Ggg>Agg		envoplakin		C	ARG/GLY	0,4406		0,0,2203	62.0	61.0	61.0		5884	4.5	0.2	17		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	EVPL	NM_001988.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1962/2034	74003402	1,13005	2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003402C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5884G>A	17.37:g.74003402C>T	ENSP00000301607:p.Gly1962Arg					EVPL_ENST00000586740.1_Missense_Mutation_p.G1984R	p.G1962R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	6137	-			1962			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5884G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379850	0.61845	0.0	1.16E-4	ENSG00000167880	ENST00000301607	D	0.85411	-1.98	5.48	4.52	0.55395	.	0.122950	0.56097	D	0.000028	D	0.92156	0.7513	M	0.86028	2.79	0.41948	D	0.990648	D;P	0.89917	1.0;0.798	D;B	0.66084	0.941;0.289	D	0.93369	0.6733	10	0.72032	D	0.01	-30.6283	14.2946	0.66302	0.0:0.9286:0.0:0.0714	.	1984;1962	B7ZLH8;Q92817	.;EVPL_HUMAN	R	1962	ENSP00000301607:G1962R	ENSP00000301607:G1962R	G	-	1	0	EVPL	71514997	0.983000	0.35010	0.199000	0.23439	0.597000	0.36814	3.888000	0.56204	1.311000	0.45024	-0.258000	0.10820	GGG		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		7	84	0	0	0	1	0	7	84				
TRIM60	166655	broad.mit.edu	37	4	165962457	165962457	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:165962457A>G	ENST00000512596.1	+	3	1449	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	TRIM60_ENST00000341062.5_Silent_p.K411K|TRIM60_ENST00000508504.1_Silent_p.K411K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	411	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTAGTAAAACCCAGTAAAA	0.398																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1231-1233)aaA>aaG		tripartite motif containing 60							99.0	104.0	102.0					4																	165962457		2203	4300	6503	SO:0001819	synonymous_variant	166655					intracellular	zinc ion binding	g.chr4:165962457A>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1233A>G	4.37:g.165962457A>G						TRIM60_ENST00000341062.5_Silent_p.K411K|TRIM60_ENST00000508504.1_Silent_p.K411K	p.K411K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1449	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	411			B30.2/SPRY.		Q8NA35	Silent	SNP	ENST00000512596.1	37	c.1233A>G	CCDS3808.1																																																																																				0.398	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		25	74	0	0	0	1	0	25	74				
RCC2	55920	broad.mit.edu	37	1	17735625	17735625	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17735625C>A	ENST00000375436.4	-	13	1717	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	RCC2_ENST00000375433.3_Missense_Mutation_p.K510N|RCC2_ENST00000474892.1_5'Flank|RP1-20B21.4_ENST00000439577.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	510					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTTTCTTGATCTTCTCTTTCT	0.547																																						ENST00000375436.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17						c.(1528-1530)aaG>aaT		regulator of chromosome condensation 2							203.0	187.0	192.0					1																	17735625		2203	4300	6503	SO:0001583	missense	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17735625C>A		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1530G>T	1.37:g.17735625C>A	ENSP00000364585:p.Lys510Asn					RCC2_ENST00000375433.3_Missense_Mutation_p.K510N	p.K510N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	13	1717	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	510					Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	ENST00000375436.4	37	c.1530G>T	CCDS181.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503125	0.64298	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.38240	1.15;1.15	5.42	4.5	0.54988	.	0.099203	0.64402	D	0.000002	T	0.23094	0.0558	L	0.28400	0.85	0.48975	D	0.999734	P	0.43094	0.799	B	0.35413	0.202	T	0.02282	-1.1183	10	0.39692	T	0.17	-25.88	10.9102	0.47103	0.0:0.9121:0.0:0.0879	.	510	Q9P258	RCC2_HUMAN	N	510	ENSP00000364585:K510N;ENSP00000364582:K510N	ENSP00000364582:K510N	K	-	3	2	RCC2	17608212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.704000	0.92352	0.650000	0.86243	AAG		0.547	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		7	170	1	0	0.000157383	1	0.000160498	7	170				
UBA1	7317	broad.mit.edu	37	X	47069466	47069466	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:47069466C>T	ENST00000335972.6	+	18	2326	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	UBA1_ENST00000377269.3_Missense_Mutation_p.H163Y|UBA1_ENST00000377351.4_Missense_Mutation_p.H715Y	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	715					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCACTGGCACACCCAGTA	0.607																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2143-2145)Cac>Tac		ubiquitin-like modifier activating enzyme 1							55.0	47.0	50.0					X																	47069466		2203	4300	6503	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47069466C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2143C>T	X.37:g.47069466C>T	ENSP00000338413:p.His715Tyr					UBA1_ENST00000377351.4_Missense_Mutation_p.H715Y|UBA1_ENST00000377269.3_Missense_Mutation_p.H163Y	p.H715Y	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			18	2326	+			715					Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.2143C>T	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177145	0.57692	.	.	ENSG00000130985	ENST00000377351;ENST00000335972;ENST00000377269	T;T;T	0.62941	-0.01;-0.01;-0.01	3.97	3.97	0.46021	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.110189	0.64402	D	0.000005	T	0.62196	0.2408	M	0.62723	1.935	0.44155	D	0.996957	D;P	0.58970	0.984;0.952	P;B	0.46320	0.512;0.256	T	0.66019	-0.6027	10	0.45353	T	0.12	-25.0926	12.7603	0.57361	0.0:1.0:0.0:0.0	.	163;715	Q5JRR6;P22314	.;UBA1_HUMAN	Y	715;715;163	ENSP00000366568:H715Y;ENSP00000338413:H715Y;ENSP00000366481:H163Y	ENSP00000338413:H715Y	H	+	1	0	UBA1	46954410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.433000	0.59929	2.237000	0.73441	0.529000	0.55759	CAC		0.607	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		5	40	0	0	0	1	0	5	40				
CROT	54677	broad.mit.edu	37	7	87006704	87006704	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87006704T>G	ENST00000331536.3	+	10	1101	c.916T>G	c.(916-918)Tgg>Ggg	p.W306G	CROT_ENST00000442291.1_Missense_Mutation_p.W306G|CROT_ENST00000419147.2_Missense_Mutation_p.W334G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	306					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AACAGTACGCTGGGGTGACAA	0.294																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(916-918)Tgg>Ggg		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						132.0	136.0	135.0					7																	87006704		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87006704T>G		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.916T>G	7.37:g.87006704T>G	ENSP00000331981:p.Trp306Gly					CROT_ENST00000419147.2_Missense_Mutation_p.W334G|CROT_ENST00000442291.1_Missense_Mutation_p.W306G	p.W306G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			10	1101	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		306					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.916T>G	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594909	0.66219	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.98296	-4.85;-4.85;-4.85	6.17	5.03	0.67393	.	0.052095	0.85682	D	0.000000	D	0.99266	0.9744	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98674	1.0689	10	0.87932	D	0	-7.0667	12.1877	0.54250	0.0:0.0658:0.0:0.9342	.	334;306	E7EQF2;Q9UKG9	.;OCTC_HUMAN	G	334;306;306	ENSP00000413575:W334G;ENSP00000331981:W306G;ENSP00000411983:W306G	ENSP00000331981:W306G	W	+	1	0	CROT	86844640	1.000000	0.71417	0.998000	0.56505	0.774000	0.43823	7.364000	0.79526	1.166000	0.42689	0.533000	0.62120	TGG		0.294	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		8	22	0	0	0	1	0	8	22				
GIGYF2	26058	broad.mit.edu	37	2	233621023	233621023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233621023C>T	ENST00000409547.1	+	8	669	c.358C>T	c.(358-360)Cga>Tga	p.R120*	GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000373566.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R120*	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	120	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)	p.R120R(2)		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)		TCCTAGAGGTCGAAGTTCTTC	0.443																																						ENST00000373566.3																			2	Substitution - coding silent(2)	p.R120R(2)	lung(2)	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.(358-360)Cga>Tga		GRB10 interacting GYF protein 2							60.0	64.0	63.0					2																	233621023		2203	4300	6503	SO:0001587	stop_gained	26058				cell death		protein binding	g.chr2:233621023C>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.358C>T	2.37:g.233621023C>T	ENSP00000386537:p.Arg120*					GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R120*	p.R120*			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)	6	555	+		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)	120			Arg-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Nonsense_Mutation	SNP	ENST00000409547.1	37	c.358C>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490341	0.96339	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.5852	19.6755	0.95930	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000362664:R120X	R	+	1	2	GIGYF2	233329267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.652000	0.90054	0.563000	0.77884	CGA		0.443	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		9	32	0	0	0	1	0	9	32				
NFYA	4800	broad.mit.edu	37	6	41062195	41062195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41062195C>T	ENST00000341376.6	+	9	1150	c.949C>T	c.(949-951)Cga>Tga	p.R317*	NFYA_ENST00000353205.5_Nonsense_Mutation_p.R288*|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	317					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTGGACGATTTTTCTC	0.388																																						ENST00000341376.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9						c.(949-951)Cga>Tga		nuclear transcription factor Y, alpha							113.0	109.0	110.0					6																	41062195		2203	4300	6503	SO:0001587	stop_gained	4800				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:41062195C>T		CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.949C>T	6.37:g.41062195C>T	ENSP00000345702:p.Arg317*					OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Nonsense_Mutation_p.R288*	p.R317*	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN			9	1150	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		317					Q8IXU0	Nonsense_Mutation	SNP	ENST00000341376.6	37	c.949C>T	CCDS4849.1	.	.	.	.	.	.	.	.	.	.	C	39	7.346182	0.98228	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	5.58	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1747	13.5496	0.61723	0.2823:0.7177:0.0:0.0	.	.	.	.	X	317;288	.	ENSP00000345702:R317X	R	+	1	2	NFYA	41170173	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	3.788000	0.55446	1.423000	0.47198	0.655000	0.94253	CGA		0.388	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040496.1			3	49	0	0	0	1	0	3	49				
SS18L1	26039	broad.mit.edu	37	20	60749651	60749651	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:60749651C>T	ENST00000331758.3	+	10	1141	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	SS18L1_ENST00000421564.1_Missense_Mutation_p.P372L|SS18L1_ENST00000370848.4_Missense_Mutation_p.P375L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	372	Gln-rich.|Necessary for nuclear localization. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TACCGAGCACCGCAGACAGCG	0.637			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(1114-1116)cCg>cTg		synovial sarcoma translocation gene on chromosome 18-like 1							82.0	86.0	85.0					20																	60749651		2203	4300	6503	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60749651C>T	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.1115C>T	20.37:g.60749651C>T	ENSP00000333012:p.Pro372Leu					SS18L1_ENST00000370848.4_Missense_Mutation_p.P375L|SS18L1_ENST00000421564.1_Missense_Mutation_p.P372L	p.P372L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		10	1141	+	Breast(26;3.97e-09)		372			Gln-rich.|Necessary for nuclear localization (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.1115C>T	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477945	0.63849	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.30981	1.53;1.53;1.51	5.02	5.02	0.67125	.	0.184196	0.48286	D	0.000183	T	0.20333	0.0489	N	0.24115	0.695	0.44880	D	0.997894	P;P	0.41710	0.76;0.727	B;B	0.27500	0.08;0.078	T	0.11991	-1.0565	10	0.87932	D	0	-5.8406	18.6966	0.91603	0.0:1.0:0.0:0.0	.	372;372	B4DSR7;O75177	.;CREST_HUMAN	L	372;372;375	ENSP00000393999:P372L;ENSP00000333012:P372L;ENSP00000359885:P375L	ENSP00000333012:P372L	P	+	2	0	SS18L1	60183046	0.978000	0.34361	0.032000	0.17829	0.769000	0.43574	7.398000	0.79919	2.503000	0.84419	0.491000	0.48974	CCG		0.637	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			4	193	0	0	0	1	0	4	193				
BRCA2	675	broad.mit.edu	37	13	32914549	32914549	+	Silent	SNP	C	C	T	rs147961615	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:32914549C>T	ENST00000380152.3	+	11	6290	c.6057C>T	c.(6055-6057)aaC>aaT	p.N2019N	BRCA2_ENST00000544455.1_Silent_p.N2019N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2019					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAAAGTAACGAACATTCAG	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C|||	12	0.00239617	0.0091	0.0	5008	,	,		20523	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(6055-6057)aaC>aaT	Homologous recombination	breast cancer 2, early onset		C		19,4387	26.2+/-53.5	0,19,2184	57.0	59.0	59.0		6057	0.2	0.0	13	dbSNP_134	59	0,8596		0,0,4298	no	coding-synonymous	BRCA2	NM_000059.3		0,19,6482	TT,TC,CC		0.0,0.4312,0.1461		2019/3419	32914549	19,12983	2203	4298	6501	SO:0001819	synonymous_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32914549C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6057C>T	13.37:g.32914549C>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Silent_p.N2019N	p.N2019N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	6284	+		Lung SC(185;0.0262)	2019					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.6057C>T	CCDS9344.1																																																																																				0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		4	87	0	0	0	1	0	4	87				
CRB1	23418	broad.mit.edu	37	1	197398616	197398616	+	Missense_Mutation	SNP	G	G	A	rs114052315	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:197398616G>A	ENST00000367400.3	+	8	2849	c.2714G>A	c.(2713-2715)cGg>cAg	p.R905Q	CRB1_ENST00000367397.1_Missense_Mutation_p.R286Q|CRB1_ENST00000535699.1_Missense_Mutation_p.R881Q|CRB1_ENST00000367399.2_Missense_Mutation_p.R793Q|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.R386Q	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	905	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> Q (in dbSNP:rs114052315). {ECO:0000269|PubMed:15459956}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCCATTCCCGGTGGGATGAC	0.507													G|||	5	0.000998403	0.0	0.0	5008	,	,		17481	0.004		0.001	False		,,,				2504	0.0					ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132	GRCh37	CM057654	CRB1	M	rs114052315	c.(856-858)cGg>cAg		crumbs homolog 1 (Drosophila)		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	185.0	167.0	173.0		2378,2714	3.2	0.7	1	dbSNP_132	173	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	CRB1	NM_001193640.1,NM_201253.2	43,43	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	793/1295,905/1407	197398616	3,13003	2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398616G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2714G>A	1.37:g.197398616G>A	ENSP00000356370:p.Arg905Gln					CRB1_ENST00000367400.3_Missense_Mutation_p.R905Q|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.R386Q|CRB1_ENST00000535699.1_Missense_Mutation_p.R881Q|CRB1_ENST00000367399.2_Missense_Mutation_p.R793Q	p.R286Q			P82279	CRUM1_HUMAN			4	1715	+			905			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.857G>A	CCDS1390.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	12.33	1.906619	0.33628	0.0	3.49E-4	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;T;T;T;T	0.92397	-3.03;-0.87;-0.87;-0.87;-0.87	5.55	3.25	0.37280	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.76849	0.4045	N	0.16790	0.44	0.09310	N	1	B;B;B;B	0.31318	0.057;0.319;0.18;0.215	B;B;B;B	0.27076	0.034;0.038;0.046;0.076	T	0.64407	-0.6415	9	0.10636	T	0.68	.	8.5223	0.33285	0.0:0.0678:0.1317:0.8005	.	881;793;554;905	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	Q	881;905;793;386;286;554	ENSP00000438786:R881Q;ENSP00000356370:R905Q;ENSP00000356369:R793Q;ENSP00000444556:R386Q;ENSP00000356367:R286Q	ENSP00000356367:R286Q	R	+	2	0	CRB1	195665239	0.900000	0.30661	0.730000	0.30809	0.410000	0.31052	1.254000	0.32897	0.392000	0.25172	-0.264000	0.10439	CGG		0.507	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		43	100	0	0	0	1	0	43	100				
CEP162	22832	broad.mit.edu	37	6	84884584	84884584	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:84884584C>T	ENST00000403245.3	-	15	2001	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	KIAA1009_ENST00000257766.4_Silent_p.A553A|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.A629A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGGGCTTGCGCACCCCTCC	0.373																																						ENST00000403245.3																			1	Substitution - coding silent(1)	p.A629A(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1885-1887)gcG>gcA		KIAA1009							86.0	74.0	78.0					6																	84884584		2203	4300	6503	SO:0001819	synonymous_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84884584C>T																												ENST00000403245.3:c.1887G>A	6.37:g.84884584C>T						KIAA1009_ENST00000257766.4_Silent_p.A553A|KIAA1009_ENST00000461137.1_5'UTR	p.A629A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	15	2001	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	629						Silent	SNP	ENST00000403245.3	37	c.1887G>A	CCDS34494.2																																																																																				0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			7	24	0	0	0	1	0	7	24				
TINAGL1	64129	broad.mit.edu	37	1	32050601	32050601	+	Missense_Mutation	SNP	G	G	A	rs566858151	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32050601G>A	ENST00000271064.7	+	7	897	c.821G>A	c.(820-822)cGt>cAt	p.R274H	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R243H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	274					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCGGTGGGCGTCTCGATGGT	0.642													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19117	0.0		0.0	False		,,,				2504	0.001					ENST00000271064.7																			0				breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(820-822)cGt>cAt		tubulointerstitial nephritis antigen-like 1							64.0	67.0	66.0					1																	32050601		2203	4300	6503	SO:0001583	missense	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050601G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.821G>A	1.37:g.32050601G>A	ENSP00000271064:p.Arg274His					TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R243H	p.R274H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	7	897	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	274					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	c.821G>A	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	7.198	0.592865	0.13875	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	D;D	0.83837	-1.77;-1.77	5.05	-0.0355	0.13892	Peptidase C1A, papain C-terminal (2);	0.097480	0.64402	N	0.000001	T	0.64057	0.2564	N	0.12502	0.225	0.80722	D	1	B;B	0.24043	0.096;0.05	B;B	0.21151	0.024;0.033	T	0.45512	-0.9256	10	0.25751	T	0.34	.	9.7021	0.40194	0.3456:0.0:0.6544:0.0	.	243;274	B4DPK6;Q9GZM7	.;TINAL_HUMAN	H	243;274;262	ENSP00000395137:R243H;ENSP00000271064:R274H	ENSP00000271064:R274H	R	+	2	0	TINAGL1	31823188	0.658000	0.27402	0.057000	0.19452	0.957000	0.61999	1.055000	0.30467	-0.193000	0.10415	-0.424000	0.05967	CGT		0.642	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164		33	101	0	0	0	1	0	33	101				
LIG1	3978	broad.mit.edu	37	19	48626217	48626217	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48626217C>T	ENST00000263274.7	-	23	2625	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.A668T|LIG1_ENST00000427526.2_Missense_Mutation_p.A705T|CTC-453G23.5_ENST00000596563.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	736					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATCTCTTGGCGATCTCGTAG	0.597								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(2206-2208)Gcc>Acc	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						187.0	167.0	174.0					19																	48626217		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48626217C>T		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2206G>A	19.37:g.48626217C>T	ENSP00000263274:p.Ala736Thr					LIG1_ENST00000427526.2_Missense_Mutation_p.A705T|LIG1_ENST00000536218.1_Missense_Mutation_p.A668T|CTC-453G23.5_ENST00000596839.1_RNA|CTC-453G23.5_ENST00000596563.1_RNA	p.A736T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	23	2625	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	736					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2206G>A	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322989	0.95708	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	T;T;T	0.54479	0.57;0.57;0.57	4.97	4.97	0.65823	DNA ligase, ATP-dependent, central (2);DNA ligase, ATP-dependent, conserved site (1);	0.051859	0.85682	D	0.000000	T	0.77738	0.4175	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.998	P;D;P	0.77004	0.893;0.989;0.893	T	0.81803	-0.0765	10	0.49607	T	0.09	-26.3684	16.0967	0.81129	0.0:1.0:0.0:0.0	.	705;668;736	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	T	736;767;705;668	ENSP00000263274:A736T;ENSP00000442841:A705T;ENSP00000441531:A668T	ENSP00000263274:A736T	A	-	1	0	LIG1	53318029	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.709000	0.74665	2.470000	0.83445	0.462000	0.41574	GCC		0.597	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		40	124	0	0	0	1	0	40	124				
PPARA	5465	broad.mit.edu	37	22	46614283	46614283	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:46614283G>A	ENST00000396000.2	+	5	758	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	PPARA_ENST00000407236.1_Missense_Mutation_p.G165R|PPARA_ENST00000402126.1_Missense_Mutation_p.G165R|PPARA_ENST00000434345.2_Missense_Mutation_p.G165R|PPARA_ENST00000262735.5_Missense_Mutation_p.G165R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	165					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CCTTTCTGTCGGGATGTCACA	0.488																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(493-495)Ggg>Agg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						244.0	217.0	226.0					22																	46614283		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46614283G>A	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.493G>A	22.37:g.46614283G>A	ENSP00000379322:p.Gly165Arg					PPARA_ENST00000402126.1_Missense_Mutation_p.G165R|PPARA_ENST00000407236.1_Missense_Mutation_p.G165R|PPARA_ENST00000262735.5_Missense_Mutation_p.G165R|PPARA_ENST00000434345.2_Missense_Mutation_p.G165R	p.G165R			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	758	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	165					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.493G>A	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233954	0.95207	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.99578	-6.21;-6.21;-6.21;-6.21;-6.21	5.67	5.67	0.87782	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96765	0.9564	10	0.66056	D	0.02	.	18.7666	0.91876	0.0:0.0:1.0:0.0	.	165;165	F1D8S4;Q07869	.;PPARA_HUMAN	R	165	ENSP00000379322:G165R;ENSP00000262735:G165R;ENSP00000385523:G165R;ENSP00000385246:G165R;ENSP00000408149:G165R	ENSP00000262735:G165R	G	+	1	0	PPARA	44992947	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.632000	0.98428	2.658000	0.90341	0.591000	0.81541	GGG		0.488	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		55	152	0	0	0	1	0	55	152				
MRPL21	219927	broad.mit.edu	37	11	68664011	68664011	+	Missense_Mutation	SNP	G	G	A	rs372240224		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68664011G>A	ENST00000362034.2	-	4	377	c.368C>T	c.(367-369)gCg>gTg	p.A123V	MRPL21_ENST00000567045.1_Missense_Mutation_p.A38V|MRPL21_ENST00000450904.2_Missense_Mutation_p.A38V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	123					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTCCACACGCAAGGTCTAG	0.532																																						ENST00000567045.1																			0				large_intestine(1)|lung(6)|prostate(1)	8						c.(112-114)gCg>gTg		mitochondrial ribosomal protein L21		G	VAL/ALA,VAL/ALA	0,4400		0,0,2200	179.0	169.0	172.0		113,368	-3.5	0.0	11		172	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense	MRPL21	NM_181515.1,NM_181514.1	64,64	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	38/121,123/206	68664011	1,12987	2200	4294	6494	SO:0001583	missense	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68664011G>A	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.368C>T	11.37:g.68664011G>A	ENSP00000354580:p.Ala123Val					MRPL21_ENST00000362034.2_Missense_Mutation_p.A123V|MRPL21_ENST00000450904.2_Missense_Mutation_p.A38V	p.A38V			Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	348	-			123					A6NKU0|C9JPR2	Missense_Mutation	SNP	ENST00000362034.2	37	c.113C>T	CCDS8186.1	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752250	0.15778	0.0	1.16E-4	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	5.26	-3.47	0.04753	.	0.273229	0.41001	D	0.000972	T	0.22975	0.0555	L	0.57536	1.79	0.09310	N	1	P;B	0.39044	0.656;0.279	B;B	0.34418	0.182;0.129	T	0.11991	-1.0565	9	0.54805	T	0.06	-3.4208	3.3013	0.06984	0.1619:0.0911:0.1665:0.5805	.	123;123	B4DXI4;Q7Z2W9	.;RM21_HUMAN	V	38;123;123	.	ENSP00000354580:A123V	A	-	2	0	MRPL21	68420587	0.944000	0.32072	0.000000	0.03702	0.001000	0.01503	1.690000	0.37711	-0.409000	0.07553	-0.825000	0.03093	GCG		0.532	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		50	156	0	0	0	1	0	50	156				
OTOF	9381	broad.mit.edu	37	2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	rs560665036		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(4354-4356)Cgc>Tgc		otoferlin							52.0	48.0	49.0					2																	26689975		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689975G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4354C>T	2.37:g.26689975G>A	ENSP00000272371:p.Arg1452Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C	p.R1452C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			35	4480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1452					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4354C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597730	0.46318	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80480	-1.13;-1.13;-1.12;-1.38;-1.38	4.69	-0.734	0.11140	.	0.045494	0.85682	D	0.000000	T	0.68504	0.3008	L	0.41236	1.265	0.80722	D	1	B;B;B;B	0.33171	0.397;0.026;0.4;0.026	B;B;B;B	0.20955	0.013;0.032;0.03;0.032	T	0.66172	-0.5990	10	0.59425	D	0.04	-20.9378	14.53	0.67917	0.0:0.0:0.3367:0.6633	.	1452;685;762;685	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	685;685;762;1452;1452	ENSP00000345137:R685C;ENSP00000344521:R685C;ENSP00000383906:R762C;ENSP00000272371:R1452C;ENSP00000385255:R1452C	ENSP00000272371:R1452C	R	-	1	0	OTOF	26543479	0.984000	0.35163	0.971000	0.41717	0.920000	0.55202	0.944000	0.29043	0.077000	0.16863	0.561000	0.74099	CGC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			21	58	0	0	0	1	0	21	58				
CLTCL1	8218	broad.mit.edu	37	22	19197976	19197976	+	Missense_Mutation	SNP	G	G	T	rs539104628		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:19197976G>T	ENST00000263200.10	-	20	3181	c.3109C>A	c.(3109-3111)Cgc>Agc	p.R1037S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1037S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1037S|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1037	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCCGTGTGCGGTCTGCCTTG	0.562			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3109-3111)Cgc>Agc		clathrin, heavy chain-like 1							67.0	68.0	68.0					22																	19197976		2092	4219	6311	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19197976G>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3109C>A	22.37:g.19197976G>T	ENSP00000445677:p.Arg1037Ser					CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1037S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1037S	p.R1037S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			20	3181	-	Colorectal(54;0.0993)		1037			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3109C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775630	0.16051	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19394	2.15;2.15;2.15	3.71	2.69	0.31865	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.584562	0.17648	N	0.166793	T	0.16300	0.0392	L	0.31157	0.91	0.53688	D	0.999978	B;B	0.11235	0.003;0.004	B;B	0.24006	0.02;0.05	T	0.05209	-1.0899	10	0.34782	T	0.22	-0.14	11.3479	0.49571	0.0902:0.0:0.9098:0.0	.	1037;1037	P53675-2;P53675	.;CLH2_HUMAN	S	1037	ENSP00000439662:R1037S;ENSP00000445677:R1037S;ENSP00000441158:R1037S	ENSP00000445677:R1037S	R	-	1	0	CLTCL1	17577976	1.000000	0.71417	0.010000	0.14722	0.001000	0.01503	6.897000	0.75671	0.776000	0.33473	-0.224000	0.12420	CGC		0.562	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		10	43	1	0	1.08611e-07	1	1.11921e-07	10	43				
RRNAD1	51093	broad.mit.edu	37	1	156702121	156702121	+	Silent	SNP	G	G	A	rs548109086		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156702121G>A	ENST00000368216.4	+	3	915	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000524343.1_Missense_Mutation_p.V54M	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	95						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17069	0.0		0.0	False		,,,				2504	0.001					ENST00000524343.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(160-162)Gtg>Atg		ribosomal RNA adenine dimethylase domain containing 1							57.0	61.0	60.0					1																	156702121		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702121G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.285G>A	1.37:g.156702121G>A						RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A|RRNAD1_ENST00000368218.4_Silent_p.A95A	p.V54M			Q96FB5	RRNAD_HUMAN			2	305	+			0					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.160G>A	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496822	0.04291	.	.	ENSG00000143303	ENST00000524343	.	.	.	4.63	1.72	0.24424	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36016	-0.9765	5	0.56958	D	0.05	-13.9837	2.1208	0.03725	0.1579:0.509:0.1548:0.1782	.	.	.	.	M	54	.	ENSP00000429389:V54M	V	+	1	0	RRNAD1	154968745	0.013000	0.17824	0.523000	0.27875	0.162000	0.22319	-0.752000	0.04797	0.192000	0.20272	-0.228000	0.12330	GTG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		18	53	0	0	0	1	0	18	53				
IRX6	79190	broad.mit.edu	37	16	55362955	55362955	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:55362955G>A	ENST00000290552.7	+	5	2397	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	355					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGTCTCTGGCGCACACCGCGA	0.627																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1063-1065)gcG>gcA		iroquois homeobox 6							56.0	52.0	53.0					16																	55362955		2198	4299	6497	SO:0001819	synonymous_variant	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362955G>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1065G>A	16.37:g.55362955G>A						RP11-26L20.3_ENST00000558730.2_RNA	p.A355A	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2397	+			355					B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	c.1065G>A	CCDS32449.1																																																																																				0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		30	30	0	0	0	1	0	30	30				
SSPO	23145	broad.mit.edu	37	7	149474811	149474811	+	RNA	SNP	C	C	T	rs566175911		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15694	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							16.0	21.0	20.0					7																	149474811		2050	4179	6229			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474811C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474811C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	610	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.687	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				7	25	0	0	0	1	0	7	25				
CES4A	283848	broad.mit.edu	37	16	67042963	67042963	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67042963G>A	ENST00000326686.5	+	14	1604	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	CES4A_ENST00000540947.2_Missense_Mutation_p.A468T|CES4A_ENST00000338718.4_Missense_Mutation_p.A491T|CES4A_ENST00000535696.1_Missense_Mutation_p.A374T|CES4A_ENST00000398354.1_Missense_Mutation_p.G465D|CES4A_ENST00000541479.1_Missense_Mutation_p.G488D|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000540579.1_Missense_Mutation_p.G437D			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	535						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ACAAGAGTGGGCATGAAGCTC	0.483																																						ENST00000540947.2																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1402-1404)Gca>Aca		carboxylesterase 4A							160.0	157.0	158.0					16																	67042963		1952	4147	6099	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67042963G>A	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1604G>A	16.37:g.67042963G>A	ENSP00000314145:p.Gly535Asp					CES4A_ENST00000541479.1_Missense_Mutation_p.G488D|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000535696.1_Missense_Mutation_p.A374T|CES4A_ENST00000326686.5_Missense_Mutation_p.G535D|CES4A_ENST00000540579.1_Missense_Mutation_p.G437D|CES4A_ENST00000338718.4_Missense_Mutation_p.A491T|CES4A_ENST00000398354.1_Missense_Mutation_p.G465D	p.A468T	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN			12	1586	+			0					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1402G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.24|14.24	2.475445|2.475445	0.43942|0.43942	.|.	.|.	ENSG00000172824|ENSG00000172824	ENST00000540947;ENST00000338718;ENST00000535696|ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T|T;T;T;T;T	0.71817|0.66638	-0.57;-0.6;-0.49|0.24;0.24;-0.22;0.24;-0.22	5.06|5.06	1.74|1.74	0.24563|0.24563	.|.	.|0.157094	.|0.29767	.|N	.|0.011244	T|T	0.51261|0.51261	0.1664|0.1664	L|L	0.39692|0.39692	1.235|1.235	0.09310|0.09310	N|N	1|1	B;B|P	0.22146|0.39624	0.027;0.065|0.681	B;B|B	0.21546|0.34452	0.035;0.035|0.183	T|T	0.45789|0.45789	-0.9237|-0.9237	9|10	0.87932|0.54805	D|T	0|0.06	.|.	9.2337|9.2337	0.37453|0.37453	0.0:0.453:0.392:0.155|0.0:0.453:0.392:0.155	.|.	374;491|488	Q5XG92-7;F8WEE9|F5H5S4	.;.|.	T|D	468;491;374|488;465;535;428;437	ENSP00000444052:A468T;ENSP00000340714:A491T;ENSP00000441644:A374T|ENSP00000443175:G488D;ENSP00000381397:G465D;ENSP00000314145:G535D;ENSP00000441103:G428D;ENSP00000441907:G437D	ENSP00000340714:A491T|ENSP00000314145:G535D	A|G	+|+	1|2	0|0	CES4A|CES4A	65600464|65600464	0.317000|0.317000	0.24589|0.24589	0.005000|0.005000	0.12908|0.12908	0.000000|0.000000	0.00434|0.00434	0.789000|0.789000	0.26886|0.26886	0.500000|0.500000	0.27991|0.27991	-0.304000|-0.304000	0.09214|0.09214	GCA|GGC		0.483	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		5	160	0	0	0	1	0	5	160				
IKZF1	10320	broad.mit.edu	37	7	50467961	50467961	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:50467961A>G	ENST00000331340.3	+	8	1351	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G	IKZF1_ENST00000349824.4_Missense_Mutation_p.D256G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312G|IKZF1_ENST00000346667.4_Missense_Mutation_p.D169G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D312G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	399					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTCCACGGACACCGAGAGC	0.657			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1195-1197)gAc>gGc		IKAROS family zinc finger 1 (Ikaros)							27.0	34.0	32.0					7																	50467961		2173	4248	6421	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467961A>G	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1196A>G	7.37:g.50467961A>G	ENSP00000331614:p.Asp399Gly					IKZF1_ENST00000346667.4_Missense_Mutation_p.D169G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D312G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.D256G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357G	p.D399G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1351	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	399					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1196A>G		.	.	.	.	.	.	.	.	.	.	A	29.0	4.972376	0.92919	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.13196	4.05;2.67;2.61;3.81;2.95;2.73;2.67;2.61	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.996	T	0.31280	-0.9949	9	0.72032	D	0.01	-22.243	15.8615	0.79026	1.0:0.0:0.0:0.0	.	312;169;312;357;399	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	G	169;312;357;256;312;399;312;357	ENSP00000340080:D169G;ENSP00000342750:D312G;ENSP00000352123:D357G;ENSP00000342485:D256G;ENSP00000349928:D312G;ENSP00000331614:D399G;ENSP00000396554:D312G;ENSP00000413025:D357G	ENSP00000331614:D399G	D	+	2	0	IKZF1	50435455	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.264000	0.95635	2.147000	0.66899	0.477000	0.44152	GAC		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		9	23	0	0	0	1	0	9	23				
ASAP2	8853	broad.mit.edu	37	2	9528611	9528611	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:9528611C>T	ENST00000281419.3	+	22	2659	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P773P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	773	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCACCTCCCGCCCAGCCTG	0.587																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2317-2319)ccC>ccT		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							27.0	32.0	31.0					2																	9528611		2203	4300	6503	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528611C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2319C>T	2.37:g.9528611C>T						ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.P773P	p.P773P	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			22	2659	+			773			Pro-rich.		D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.2319C>T	CCDS1661.1																																																																																				0.587	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		13	41	0	0	0	1	0	13	41				
SIGLEC1	6614	broad.mit.edu	37	20	3686643	3686643	+	Missense_Mutation	SNP	C	C	T	rs144297916		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3686643C>T	ENST00000344754.4	-	3	453	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E152K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	152	Ig-like C2-type 1.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGTGCCCTCGAGAAGCTCC	0.627																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(454-456)Gag>Aag		sialic acid binding Ig-like lectin 1, sialoadhesin		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		454	4.1	0.5	20	dbSNP_134	73	0,8600		0,0,4300	no	missense	SIGLEC1	NM_023068.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	152/1710	3686643	1,13005	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3686643C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.454G>A	20.37:g.3686643C>T	ENSP00000341141:p.Glu152Lys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E152K	p.E152K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			3	453	-			152			Ig-like C2-type 1.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.454G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729010	0.48833	2.27E-4	0.0	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.78246	-1.16;-1.16	5.01	4.07	0.47477	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001056	D	0.85725	0.5763	M	0.78801	2.425	0.36572	D	0.873048	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.86848	0.2021	10	0.39692	T	0.17	.	9.3004	0.37842	0.0:0.8999:0.0:0.1001	.	152;152;152	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	K	152	ENSP00000341141:E152K;ENSP00000202578:E152K	ENSP00000202578:E152K	E	-	1	0	SIGLEC1	3634643	0.863000	0.29885	0.466000	0.27168	0.143000	0.21401	2.060000	0.41394	1.114000	0.41781	0.462000	0.41574	GAG		0.627	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		35	72	0	0	0	1	0	35	72				
RGR	5995	broad.mit.edu	37	10	86007450	86007450	+	Missense_Mutation	SNP	G	G	A	rs184408533		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:86007450G>A	ENST00000372092.3	+	2	138	c.133G>A	c.(133-135)Gga>Aga	p.G45R	RGR_ENST00000359452.4_Silent_p.A61A|RGR_ENST00000358110.5_Silent_p.A61A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGCTCTTGCGGACAGTGGGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17887	0.001		0.0	False		,,,				2504	0.0				NSCLC(15;204 545 5889 6385 32445)	ENST00000372092.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						c.(133-135)Gga>Aga		retinal G protein coupled receptor							121.0	110.0	114.0					10																	86007450		2203	4300	6503	SO:0001583	missense	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86007450G>A	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.133G>A	10.37:g.86007450G>A	ENSP00000361164:p.Gly45Arg					RGR_ENST00000359452.4_Silent_p.A61A|RGR_ENST00000358110.5_Silent_p.A61A	p.G45R			P47804	RGR_HUMAN			2	138	+			0					A6NKK7|Q96FC5	Missense_Mutation	SNP	ENST00000372092.3	37	c.133G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	13.32	2.200517	0.38905	.	.	ENSG00000148604	ENST00000372092	.	.	.	4.17	-8.34	0.00988	.	.	.	.	.	T	0.46678	0.1405	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.07809	-1.0753	7	0.87932	D	0	.	9.8656	0.41140	0.4509:0.4371:0.112:0.0	.	45	Q96HT6	.	R	45	.	ENSP00000361164:G45R	G	+	1	0	RGR	85997430	0.000000	0.05858	0.479000	0.27329	0.993000	0.82548	-3.362000	0.00497	-1.685000	0.01441	0.467000	0.42956	GGA		0.627	RGR-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049117.1	NM_002921		37	127	0	0	0	1	0	37	127				
OPRM1	4988	broad.mit.edu	37	6	154412196	154412196	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:154412196C>T	ENST00000330432.7	+	3	990	c.753C>T	c.(751-753)acC>acT	p.T251T	OPRM1_ENST00000337049.4_Silent_p.T251T|OPRM1_ENST00000229768.5_Silent_p.T251T|OPRM1_ENST00000414028.2_Silent_p.T251T|OPRM1_ENST00000435918.2_Silent_p.T251T|OPRM1_ENST00000360422.4_Silent_p.T251T|OPRM1_ENST00000518759.1_Silent_p.T170T|OPRM1_ENST00000520708.1_Silent_p.T151T|OPRM1_ENST00000524163.1_Silent_p.T251T|OPRM1_ENST00000428397.2_Silent_p.T251T|OPRM1_ENST00000452687.2_Silent_p.T251T|OPRM1_ENST00000434900.2_Silent_p.T344T|OPRM1_ENST00000419506.2_Silent_p.T251T|OPRM1_ENST00000522236.1_Silent_p.T151T|OPRM1_ENST00000522555.1_Silent_p.T151T	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	251					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.T251T(2)|p.T344T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TCATCATTACCGTGTGCTATG	0.473																																						ENST00000414028.2																			3	Substitution - coding silent(3)	p.T251T(2)|p.T344T(1)	lung(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(751-753)acC>acT		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						187.0	178.0	181.0					6																	154412196		2129	4276	6405	SO:0001819	synonymous_variant	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412196C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.753C>T	6.37:g.154412196C>T						OPRM1_ENST00000428397.2_Silent_p.T251T|OPRM1_ENST00000229768.5_Silent_p.T251T|OPRM1_ENST00000518759.1_Silent_p.T170T|OPRM1_ENST00000419506.2_Silent_p.T251T|OPRM1_ENST00000360422.4_Silent_p.T251T|OPRM1_ENST00000522555.1_Silent_p.T151T|OPRM1_ENST00000452687.2_Silent_p.T251T|OPRM1_ENST00000520708.1_Silent_p.T151T|OPRM1_ENST00000435918.2_Silent_p.T251T|OPRM1_ENST00000434900.2_Silent_p.T344T|OPRM1_ENST00000337049.4_Silent_p.T251T|OPRM1_ENST00000330432.7_Silent_p.T251T|OPRM1_ENST00000522236.1_Silent_p.T151T|OPRM1_ENST00000524163.1_Silent_p.T251T	p.T251T	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	803	+		Ovarian(120;0.196)	251					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.753C>T	CCDS55070.1																																																																																				0.473	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		23	92	0	0	0	1	0	23	92				
ADAMTSL3	57188	broad.mit.edu	37	15	84581902	84581902	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:84581902C>T	ENST00000286744.5	+	16	1983	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1759-1761)Cgt>Tgt		ADAMTS-like 3							90.0	82.0	84.0					15																	84581902		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84581902C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1759C>T	15.37:g.84581902C>T	ENSP00000286744:p.Arg587Cys					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587C	p.R587C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	1983	+			587		R -> H (in a colorectal cancer sample; somatic mutation).	TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1759C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227869	0.58777	.	.	ENSG00000156218	ENST00000286744	T	0.80909	-1.43	4.9	4.9	0.64082	.	0.070349	0.53938	D	0.000047	D	0.93851	0.8033	H	0.99249	4.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95744	0.8786	10	0.87932	D	0	.	13.1271	0.59363	0.16:0.84:0.0:0.0	.	587;587	P82987-2;P82987	.;ATL3_HUMAN	C	587	ENSP00000286744:R587C	ENSP00000286744:R587C	R	+	1	0	ADAMTSL3	82372906	1.000000	0.71417	0.100000	0.21137	0.343000	0.28985	4.242000	0.58714	2.246000	0.74042	0.563000	0.77884	CGT		0.602	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		35	80	0	0	0	1	0	35	80				
PDIA4	9601	broad.mit.edu	37	7	148701135	148701135	+	Silent	SNP	G	G	A	rs145077850	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:148701135G>A	ENST00000286091.4	-	10	1921	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	563	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.(1687-1689)ccC>ccT		protein disulfide isomerase family A, member 4		G		3,4403	6.2+/-15.9	0,3,2200	131.0	125.0	127.0		1689	-6.6	0.3	7	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDIA4	NM_004911.4		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		563/646	148701135	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148701135G>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1689C>T	7.37:g.148701135G>A							p.P563P	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		10	1921	-	Melanoma(164;0.15)		563			Thioredoxin 3.		A8K4K6|Q549T6	Silent	SNP	ENST00000286091.4	37	c.1689C>T	CCDS5893.1																																																																																				0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		35	98	0	0	0	1	0	35	98				
PHC2	1912	broad.mit.edu	37	1	33799804	33799804	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33799804C>T	ENST00000257118.5	-	9	1698	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	PHC2_ENST00000373416.1_Missense_Mutation_p.G14S|PHC2_ENST00000373422.3_Missense_Mutation_p.G155S|PHC2_ENST00000431992.1_Missense_Mutation_p.G520S|PHC2_ENST00000419414.2_Missense_Mutation_p.G550S|PHC2_ENST00000373418.3_Missense_Mutation_p.G14S|MIR3605_ENST00000583214.1_RNA|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	549					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGCAGTGCCGGCGATGCTG	0.582																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1645-1647)Ggc>Agc		polyhomeotic homolog 2 (Drosophila)							138.0	133.0	135.0					1																	33799804		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799804C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1645G>A	1.37:g.33799804C>T	ENSP00000257118:p.Gly549Ser					PHC2_ENST00000373418.3_Missense_Mutation_p.G14S|PHC2_ENST00000373416.1_Missense_Mutation_p.G14S|PHC2_ENST00000373422.3_Missense_Mutation_p.G155S|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.G550S|PHC2_ENST00000431992.1_Missense_Mutation_p.G520S	p.G549S	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			9	1698	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	549					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.1645G>A	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177473	0.94846	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.52019	-0.8631	10	0.06891	T	0.86	-6.7648	18.3732	0.90420	0.0:1.0:0.0:0.0	.	550;521;549	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	S	520;549;155;14;128;550;14	ENSP00000389436:G520S;ENSP00000257118:G549S;ENSP00000362521:G155S;ENSP00000362517:G14S;ENSP00000391440:G550S;ENSP00000362515:G14S	ENSP00000257118:G549S	G	-	1	0	PHC2	33572391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.777000	0.47717	2.941000	0.99782	0.655000	0.94253	GGC		0.582	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		51	109	0	0	0	1	0	51	109				
PCDHGB3	56102	broad.mit.edu	37	5	140750489	140750489	+	Silent	SNP	G	G	A	rs563952977		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140750489G>A	ENST00000576222.1	+	1	659	c.528G>A	c.(526-528)ccG>ccA	p.P176P	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	176	Cadherin 2. {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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGATCCGCACTTCTCTT	0.542													.|||	1	0.000199681	0.0	0.0	5008	,	,		20276	0.0		0.0	False		,,,				2504	0.001					ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(526-528)ccG>ccA									187.0	183.0	184.0					5																	140750489		2030	4198	6228	SO:0001819	synonymous_variant	0							g.chr5:140750489G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.528G>A	5.37:g.140750489G>A						PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.P176P	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	659	+								A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.528G>A	CCDS58980.1																																																																																				0.542	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		20	308	0	0	0	1	0	20	308				
ASIC4	55515	broad.mit.edu	37	2	220399917	220399917	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:220399917G>A	ENST00000347842.3	+	5	1438	c.1424G>A	c.(1423-1425)gGc>gAc	p.G475D	ASIC4_ENST00000358078.4_Missense_Mutation_p.G494D	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	475					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GGCCCTGAGGGCCCGTGCTTC	0.642																																						ENST00000358078.4																			0											c.(1480-1482)gGc>gAc		acid-sensing (proton-gated) ion channel family member 4							47.0	47.0	47.0					2																	220399917		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220399917G>A	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1424G>A	2.37:g.220399917G>A	ENSP00000326627:p.Gly475Asp					ASIC4_ENST00000347842.3_Missense_Mutation_p.G475D	p.G494D			Q96FT7	ACCN4_HUMAN			6	1495	+			475					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1481G>A	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201385	0.22121	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.60424	0.19;0.19	4.67	4.67	0.58626	.	0.121040	0.64402	D	0.000014	T	0.16041	0.0386	N	0.00116	-2.08	0.46011	D	0.998813	B;B	0.15141	0.012;0.002	B;B	0.16722	0.016;0.01	T	0.24657	-1.0154	10	0.20046	T	0.44	-21.7994	5.8097	0.18460	0.2315:0.0:0.7685:0.0	.	475;494	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	D	475;494	ENSP00000326627:G475D;ENSP00000350786:G494D	ENSP00000326627:G475D	G	+	2	0	ACCN4	220108161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.602000	0.87976	0.650000	0.86243	GGC		0.642	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		21	51	0	0	0	1	0	21	51				
MRC2	9902	broad.mit.edu	37	17	60754670	60754670	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:60754670C>T	ENST00000303375.5	+	12	2277	c.1875C>T	c.(1873-1875)agC>agT	p.S625S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	625	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACTGGCAGCGCCATGGGGC	0.667																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1873-1875)agC>agT		mannose receptor, C type 2							10.0	12.0	11.0					17																	60754670		2186	4276	6462	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60754670C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1875C>T	17.37:g.60754670C>T							p.S625S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			12	2277	+			625			C-type lectin 3.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1875C>T	CCDS11634.1																																																																																				0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	14	0	0	0	1	0	4	14				
AKAP12	9590	broad.mit.edu	37	6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:151671792G>A	ENST00000253332.1	+	3	2455	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V756I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(2266-2268)Gtt>Att		A kinase (PRKA) anchor protein 12							97.0	109.0	105.0					6																	151671792		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671792G>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2266G>A	6.37:g.151671792G>A	ENSP00000253332:p.Val756Ile					AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000253332.1_Missense_Mutation_p.V756I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I	p.V756I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2506	+		Ovarian(120;0.125)	756			AKAP 2.		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2266G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197061	0.38806	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.63	5.63	0.86233	Protein kinase A anchoring, WSK motif (1);	0.000000	0.39615	N	0.001305	T	0.28433	0.0703	N	0.12182	0.205	0.28498	N	0.914158	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.61328	0.753;0.753;0.887	T	0.15665	-1.0429	10	0.37606	T	0.19	.	13.3874	0.60803	0.0806:0.0:0.9194:0.0	.	651;658;756	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	756;756;658;651	ENSP00000384537:V756I;ENSP00000253332:V756I;ENSP00000346702:V658I;ENSP00000352794:V651I	ENSP00000253332:V756I	V	+	1	0	AKAP12	151713485	1.000000	0.71417	0.107000	0.21349	0.083000	0.17756	4.314000	0.59166	2.652000	0.90054	0.655000	0.94253	GTT		0.537	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			58	166	0	0	0	1	0	58	166				
TFAP4	7023	broad.mit.edu	37	16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312644G>A	ENST00000204517.6	-	2	476	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	50	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCGATCTCCCGCCGAATCCGC	0.632																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(148-150)Cgg>Tgg		transcription factor AP-4 (activating enhancer binding protein 4)							92.0	94.0	93.0					16																	4312644		2197	4300	6497	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312644G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.148C>T	16.37:g.4312644G>A	ENSP00000204517:p.Arg50Trp						p.R50W	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			2	476	-			50					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.148C>T	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464367	0.26335	.	.	ENSG00000090447	ENST00000204517	D	0.99319	-5.74	5.57	-0.745	0.11098	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.96777	3.88	0.54753	D	0.999987	D	0.89917	1.0	D	0.83275	0.996	D	0.98660	1.0683	10	0.87932	D	0	.	17.2457	0.87027	0.0:0.0:0.4535:0.5465	.	50	Q01664	TFAP4_HUMAN	W	50	ENSP00000204517:R50W	ENSP00000204517:R50W	R	-	1	2	TFAP4	4252645	0.988000	0.35896	0.957000	0.39632	0.502000	0.33828	0.917000	0.28665	-0.003000	0.14444	-1.378000	0.01179	CGG		0.632	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		35	98	0	0	0	1	0	35	98				
CASKIN2	57513	broad.mit.edu	37	17	73498257	73498257	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73498257G>A	ENST00000321617.3	-	18	3484	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	CASKIN2_ENST00000433559.2_Silent_p.P884P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	966	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCAGCGGGCTTCGGGC	0.672																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2896-2898)ccC>ccT		CASK interacting protein 2							15.0	22.0	20.0					17																	73498257		1774	3579	5353	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498257G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2898C>T	17.37:g.73498257G>A						CASKIN2_ENST00000433559.2_Silent_p.P884P	p.P966P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3484	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		966			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2898C>T	CCDS11723.1																																																																																				0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		21	38	0	0	0	1	0	21	38				
PDGFRA	5156	broad.mit.edu	37	4	55127503	55127503	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55127503G>A	ENST00000257290.5	+	3	622	c.291G>A	c.(289-291)ttG>ttA	p.L97L	PDGFRA_ENST00000508170.1_Silent_p.L97L|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	97	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ACACAGGGTTGTACACTTGCT	0.502			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(289-291)ttG>ttA		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						183.0	186.0	185.0					4																	55127503		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55127503G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.291G>A	4.37:g.55127503G>A		TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_Silent_p.L97L|FIP1L1_ENST00000507166.1_Intron	p.L97L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		3	622	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		97			Ig-like C2-type 1.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.291G>A	CCDS3495.1																																																																																				0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		5	303	0	0	0	1	0	5	303				
ARPIN	348110	broad.mit.edu	37	15	90451588	90451588	+	Silent	SNP	G	G	A	rs531934995		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90451588G>A	ENST00000357484.5	-	3	345	c.225C>T	c.(223-225)gaC>gaT	p.D75D	C15orf38_ENST00000460685.1_De_novo_Start_OutOfFrame|C15orf38-AP3S2_ENST00000398333.3_Silent_p.D75D	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		75					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTCCCTTGGCGTCGAATTTAC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19014	0.0		0.0	False		,,,				2504	0.0					ENST00000460685.1																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10								chromosome 15 open reading frame 38							114.0	121.0	119.0					15																	90451588		2099	4215	6314	SO:0001819	synonymous_variant	348110							g.chr15:90451588G>A																												ENST00000357484.5:c.225C>T	15.37:g.90451588G>A						C15orf38-AP3S2_ENST00000398333.3_Silent_p.D75D|C15orf38_ENST00000357484.5_Silent_p.D75D						BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		0	768	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Translation_Start_Site	SNP	ENST00000357484.5	37		CCDS42080.1																																																																																				0.582	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			31	61	0	0	0	1	0	31	61				
DNAJC10	54431	broad.mit.edu	37	2	183582840	183582840	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:183582840C>A	ENST00000264065.7	+	3	442	c.27C>A	c.(25-27)gaC>gaA	p.D9E	DNAJC10_ENST00000469118.1_Intron|DNAJC10_ENST00000537515.1_Missense_Mutation_p.D9E	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	9					cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATAAAGATGACTATATCAGAG	0.353																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.6																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(25-27)gaC>gaA		DnaJ (Hsp40) homolog, subfamily C, member 10							95.0	98.0	97.0					2																	183582840		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183582840C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.27C>A	2.37:g.183582840C>A	ENSP00000264065:p.Asp9Glu					DNAJC10_ENST00000537515.1_Missense_Mutation_p.D9E|DNAJC10_ENST00000469118.1_Intron	p.D9E	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	442	+			9					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.27C>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.664863	0.29604	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	T;T	0.41758	1.37;0.99	5.62	1.76	0.24704	.	0.588311	0.18889	N	0.128376	T	0.25568	0.0622	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.14117	-1.0484	10	0.39692	T	0.17	.	6.0433	0.19746	0.1251:0.591:0.0:0.2839	.	9;9	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	E	9	ENSP00000264065:D9E;ENSP00000441560:D9E	ENSP00000264065:D9E	D	+	3	2	DNAJC10	183291085	0.008000	0.16893	0.366000	0.25914	0.953000	0.61014	0.029000	0.13666	0.318000	0.23185	-0.145000	0.13849	GAC		0.353	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		18	48	1	0	2.4624e-09	1	2.54714e-09	18	48				
MYLK4	340156	broad.mit.edu	37	6	2685806	2685806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2685806G>A	ENST00000274643.7	-	5	688	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	MYLK4_ENST00000268446.5_Missense_Mutation_p.R116C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	116	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGGCCGAAACGCCCTCTGCCA	0.577																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(346-348)Cgt>Tgt		myosin light chain kinase family, member 4							80.0	79.0	80.0					6																	2685806		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2685806G>A		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.346C>T	6.37:g.2685806G>A	ENSP00000274643:p.Arg116Cys					MYLK4_ENST00000268446.5_Missense_Mutation_p.R116C	p.R116C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			5	688	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	116			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.346C>T	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366209	0.95900	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.39787	1.06;1.06	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000304	T	0.53546	0.1803	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55173	-0.8182	10	0.87932	D	0	.	18.8157	0.92076	0.0:0.0:1.0:0.0	.	116	Q86YV6	MYLK4_HUMAN	C	116	ENSP00000268446:R116C;ENSP00000274643:R116C	ENSP00000268446:R116C	R	-	1	0	MYLK4	2630805	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.919000	0.87513	2.684000	0.91462	0.650000	0.86243	CGT		0.577	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		31	72	0	0	0	1	0	31	72				
DNAI2	64446	broad.mit.edu	37	17	72277951	72277951	+	5'UTR	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72277951G>A	ENST00000311014.6	+	0	62				DNAI2_ENST00000446837.2_5'UTR|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_5'UTR|DNAI2_ENST00000579490.1_Missense_Mutation_p.G56S			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2						cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCAGCAGCCGGCACCATGGA	0.612									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(166-168)Ggc>Agc		dynein, axonemal, intermediate chain 2							65.0	59.0	61.0					17																	72277951		2203	4300	6503	SO:0001623	5_prime_UTR_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72277951G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.-6G>A	17.37:g.72277951G>A						DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000311014.6_5'UTR|DNAI2_ENST00000446837.2_5'UTR|DNAI2_ENST00000582036.1_5'UTR	p.G56S			Q9GZS0	DNAI2_HUMAN			1	301	+			0					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.166G>A	CCDS11697.1																																																																																				0.612	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		4	89	0	0	0	1	0	4	89				
TBC1D14	57533	broad.mit.edu	37	4	6925751	6925751	+	Missense_Mutation	SNP	G	G	A	rs374524981		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:6925751G>A	ENST00000409757.4	+	2	759	c.635G>A	c.(634-636)cGt>cAt	p.R212H	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R212H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	212					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGGAAACCCGTGGCTTACAC	0.483																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(634-636)cGt>cAt		TBC1 domain family, member 14		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	54.0	46.0	49.0		635,635	0.3	0.0	4		49	0,8600		0,0,4300	no	missense,missense	TBC1D14	NM_020773.2,NM_001113361.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	212/694,212/694	6925751	1,13005	2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6925751G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.635G>A	4.37:g.6925751G>A	ENSP00000386921:p.Arg212His					TBC1D14_ENST00000448507.1_Missense_Mutation_p.R212H	p.R212H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			2	759	+			212					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.635G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	8.957	0.969509	0.18659	2.27E-4	0.0	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.04317	3.65;3.65	4.11	0.26	0.15588	.	0.601605	0.16567	N	0.208819	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45396	-0.9264	9	.	.	.	4.0491	2.9193	0.05764	0.156:0.2578:0.4539:0.1324	.	212	Q9P2M4	TBC14_HUMAN	H	212	ENSP00000404041:R212H;ENSP00000386921:R212H	.	R	+	2	0	TBC1D14	6976652	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-1.168000	0.03123	-0.187000	0.10516	-0.282000	0.10007	CGT		0.483	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		17	30	0	0	0	1	0	17	30				
ADAMTSL1	92949	broad.mit.edu	37	9	18504839	18504839	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18504839G>A	ENST00000380548.4	+	2	415	c.76G>A	c.(76-78)Gca>Aca	p.A26T	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.A26T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	26						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCAGGACCGCACGCTCCGA	0.577																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(76-78)Gca>Aca		ADAMTS-like 1							70.0	76.0	74.0					9																	18504839		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504839G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.76G>A	9.37:g.18504839G>A	ENSP00000369921:p.Ala26Thr					ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.A26T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.A26T	p.A26T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	415	+			26					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.76G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704554	0.30232	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.66638	-0.03;-0.01;-0.15;-0.22;-0.08;-0.04	5.4	4.45	0.53987	.	.	.	.	.	T	0.42832	0.1220	N	0.04203	-0.255	0.80722	D	1	B;B	0.14805	0.011;0.002	B;B	0.09377	0.004;0.001	T	0.22103	-1.0226	9	0.21014	T	0.42	.	12.9096	0.58173	0.0851:0.0:0.9149:0.0	.	26;26	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	T	26	ENSP00000369921:A26T;ENSP00000327887:A26T;ENSP00000401157:A26T;ENSP00000369944:A26T;ENSP00000369940:A26T;ENSP00000276935:A26T	ENSP00000276935:A26T	A	+	1	0	ADAMTSL1	18494839	0.999000	0.42202	0.969000	0.41365	0.980000	0.70556	3.014000	0.49590	1.144000	0.42321	0.561000	0.74099	GCA		0.577	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			48	141	0	0	0	1	0	48	141				
PSG4	5672	broad.mit.edu	37	19	43698501	43698501	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698501T>C	ENST00000405312.3	-	5	1471	c.1234A>G	c.(1234-1236)Aaa>Gaa	p.K412E	PSG4_ENST00000244295.9_Missense_Mutation_p.K319E|PSG4_ENST00000433626.2_Missense_Mutation_p.K319E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	412					female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAGAGACTTTGACTGTGATG	0.463																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1234-1236)Aaa>Gaa		pregnancy specific beta-1-glycoprotein 4							227.0	224.0	225.0					19																	43698501		2203	4295	6498	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698501T>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.1234A>G	19.37:g.43698501T>C	ENSP00000384770:p.Lys412Glu					PSG4_ENST00000433626.2_Missense_Mutation_p.K319E|PSG4_ENST00000244295.9_Missense_Mutation_p.K319E	p.K412E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1471	-		Prostate(69;0.00682)	412					E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1234A>G	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	g	1.734	-0.493374	0.04322	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.12569	2.67;2.67;2.67	1.18	-0.0375	0.13884	Immunoglobulin-like fold (1);	.	.	.	.	T	0.07234	0.0183	N	0.20685	0.6	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.20577	0.03;0.007;0.008	T	0.43540	-0.9385	9	0.20519	T	0.43	.	4.0173	0.09649	0.0:0.0:0.3805:0.6195	rs3207389	319;319;412	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	E	319;412;319	ENSP00000244295:K319E;ENSP00000384770:K412E;ENSP00000387864:K319E	ENSP00000244295:K319E	K	-	1	0	PSG4	48390341	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.046000	0.14035	-0.310000	0.08766	-0.575000	0.04146	AAA		0.463	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		82	220	0	0	0	1	0	82	220				
ZNF644	84146	broad.mit.edu	37	1	91406185	91406185	+	Silent	SNP	C	C	T	rs148356542		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:91406185C>T	ENST00000370440.1	-	3	943	c.726G>A	c.(724-726)acG>acA	p.T242T	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T242T|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGAAATTCCCGTTACTGTAT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		19222	0.001		0.0	False		,,,				2504	0.0					ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(724-726)acG>acA		zinc finger protein 644							162.0	165.0	164.0					1																	91406185		2201	4300	6501	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406185C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.726G>A	1.37:g.91406185C>T						ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T242T	p.T242T			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	943	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	242					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.726G>A	CCDS731.1																																																																																				0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		12	159	0	0	0	1	0	12	159				
DOPEY2	9980	broad.mit.edu	37	21	37609603	37609603	+	Missense_Mutation	SNP	G	G	A	rs375875949		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:37609603G>A	ENST00000399151.3	+	16	2751	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2665-2667)cGg>cAg		dopey family member 2							116.0	97.0	103.0					21																	37609603		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37609603G>A	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2666G>A	21.37:g.37609603G>A	ENSP00000382104:p.Arg889Gln						p.R889Q	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			16	2751	+			889					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.2666G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611008	0.46631	.	.	ENSG00000142197	ENST00000399151	T	0.65916	-0.18	5.3	2.04	0.26737	.	0.059391	0.64402	D	0.000004	T	0.45736	0.1357	L	0.46157	1.445	0.32773	N	0.503532	P	0.42296	0.775	B	0.28916	0.096	T	0.56745	-0.7928	10	0.28530	T	0.3	-5.6675	11.8806	0.52574	0.2241:0.0:0.7759:0.0	.	889	Q9Y3R5	DOP2_HUMAN	Q	889	ENSP00000382104:R889Q	ENSP00000382104:R889Q	R	+	2	0	DOPEY2	36531473	0.845000	0.29573	0.997000	0.53966	0.979000	0.70002	3.059000	0.49947	0.635000	0.30488	0.591000	0.81541	CGG		0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		6	89	0	0	0	1	0	6	89				
LPHN1	22859	broad.mit.edu	37	19	14267939	14267939	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14267939C>T	ENST00000340736.6	-	16	3076	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	LPHN1_ENST00000361434.3_Missense_Mutation_p.A922T|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	927					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCAGGCCGGCGAAGATGGGG	0.642																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2779-2781)Gcc>Acc		latrophilin 1							46.0	47.0	47.0					19																	14267939		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267939C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2779G>A	19.37:g.14267939C>T	ENSP00000340688:p.Ala927Thr					LPHN1_ENST00000361434.3_Missense_Mutation_p.A922T|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.A927T	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3076	-			927					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2779G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045084	0.75846	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.50277	0.75;0.75	4.62	4.62	0.57501	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70605	-0.4826	10	0.87932	D	0	.	10.5777	0.45238	0.1927:0.8073:0.0:0.0	.	922;927	O94910-2;O94910	.;LPHN1_HUMAN	T	927;922	ENSP00000340688:A927T;ENSP00000355328:A922T	ENSP00000340688:A927T	A	-	1	0	LPHN1	14128939	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	5.762000	0.68809	2.265000	0.75225	0.491000	0.48974	GCC		0.642	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		15	36	0	0	0	1	0	15	36				
SLC29A1	2030	broad.mit.edu	37	6	44199798	44199798	+	Missense_Mutation	SNP	G	G	A	rs190729620		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44199798G>A	ENST00000393841.1	+	11	1419	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	SLC29A1_ENST00000371731.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V310M|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V310M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V389M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V310M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	310					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GTTTCCAGCCGTGACTGTTGA	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21811	0.0		0.0	False		,,,				2504	0.0					ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(928-930)Gtg>Atg		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						136.0	115.0	122.0					6																	44199798		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44199798G>A	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.928G>A	6.37:g.44199798G>A	ENSP00000377424:p.Val310Met					SLC29A1_ENST00000427851.2_Missense_Mutation_p.V310M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V310M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V389M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V310M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V310M	p.V310M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1419	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		310					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.928G>A	CCDS4908.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.26	3.792858	0.70452	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.53	4.65	0.58169	.	0.222920	0.36409	N	0.002620	D	0.88328	0.6407	M	0.88031	2.925	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	D	0.89463	0.3738	10	0.87932	D	0	12.4848	10.3713	0.44055	0.1516:0.0:0.8484:0.0	.	389;310	B3KQV7;Q99808	.;S29A1_HUMAN	M	310;389;310;310;310;310;310;310;310;310	ENSP00000377427:V310M;ENSP00000319152:V389M;ENSP00000392668:V310M;ENSP00000360820:V310M;ENSP00000360805:V310M;ENSP00000360796:V310M;ENSP00000377424:V310M;ENSP00000360789:V310M;ENSP00000360778:V310M;ENSP00000360773:V310M	ENSP00000319152:V389M	V	+	1	0	SLC29A1	44307776	1.000000	0.71417	0.150000	0.22450	0.888000	0.51559	4.255000	0.58804	2.624000	0.88883	0.557000	0.71058	GTG		0.527	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			15	31	0	0	0	1	0	15	31				
CIT	11113	broad.mit.edu	37	12	120156517	120156517	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:120156517G>A	ENST00000261833.7	-	30	3916	c.3864C>T	c.(3862-3864)tcC>tcT	p.S1288S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.S1330S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1288	Interaction with Rho/Rac.				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)		CCTCCCGGGCGGACCGGAGCT	0.552																																						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.(3988-3990)tcC>tcT		citron (rho-interacting, serine/threonine kinase 21)							103.0	103.0	103.0					12																	120156517		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120156517G>A	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.3864C>T	12.37:g.120156517G>A						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S1288S	p.S1330S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	31	4045	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1288					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3990C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	7.282	0.609252	0.14066	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.45357	0.1338	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58183	-0.7681	4	.	.	.	.	8.7587	0.34661	0.587:0.2573:0.0903:0.0653	.	.	.	.	L	901	.	.	P	-	2	0	CIT	118640900	0.000000	0.05858	0.068000	0.19968	0.986000	0.74619	-2.359000	0.01085	-2.658000	0.00420	-0.885000	0.02943	CCG		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	149	0	0	0	1	0	5	149				
ZAN	7455	broad.mit.edu	37	7	100357394	100357394	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100357394G>A	ENST00000348028.3	+	0	3787				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGAAGGCGTGTCCTGCCT	0.582																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							40.0	44.0	42.0					7																	100357394		2092	4214	6306			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100357394G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100357394G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3770	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	g	4.897	0.166621	0.09339	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.60424	0.19;0.19;0.19	4.23	-7.52	0.01341	von Willebrand factor, type D domain (3);	1.357460	0.05132	N	0.492716	T	0.44052	0.1275	L	0.60957	1.885	0.44652	D	0.997636	P;P	0.44241	0.795;0.829	B;B	0.33295	0.1;0.161	T	0.53767	-0.8392	10	0.49607	T	0.09	.	8.4073	0.32622	0.629:0.1166:0.2544:0.0	.	1208;1208	F5H0T8;Q9Y493	.;ZAN_HUMAN	M	1208	ENSP00000445943:V1208M;ENSP00000445091:V1208M;ENSP00000444427:V1208M	ENSP00000423579:V1208M	V	+	1	0	ZAN	100195330	0.212000	0.23540	0.000000	0.03702	0.002000	0.02628	0.194000	0.17135	-1.881000	0.01123	-1.096000	0.02151	GTG		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	10	0	0	0	1	0	6	10				
TRBV4-2	28616	broad.mit.edu	37	7	142045655	142045655	+	RNA	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:142045655A>G	ENST00000390392.3	+	0	294									T cell receptor beta variable 4-2																		CTAAGAAGCCACTGGAGCTCA	0.433																																						ENST00000390392.3																			0																				188.0	218.0	208.0					7																	142045655		2005	4181	6186			0							g.chr7:142045655A>G	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045655A>G														0	294	+									RNA	SNP	ENST00000390392.3	37																																																																																						0.433	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		32	206	0	0	0	1	0	32	206				
KLHL10	317719	broad.mit.edu	37	17	40004485	40004485	+	Missense_Mutation	SNP	C	C	T	rs200952142		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40004485C>T	ENST00000293303.4	+	5	1906	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	585					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGCAGCTAGACGGGACAACTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19326	0.0		0.001	False		,,,				2504	0.0					ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1753-1755)Cgg>Tgg		kelch-like family member 10							124.0	122.0	123.0					17																	40004485		1993	4163	6156	SO:0001583	missense	317719					cytoplasm		g.chr17:40004485C>T	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1753C>T	17.37:g.40004485C>T	ENSP00000293303:p.Arg585Trp						p.R585W	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			5	1906	+		Breast(137;0.000162)	585					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1753C>T	CCDS42340.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.33	3.807404	0.70797	.	.	ENSG00000161594	ENST00000293303	T	0.71934	-0.61	6.17	2.97	0.34412	.	0.126837	0.52532	D	0.000069	T	0.71525	0.3350	N	0.19112	0.55	0.41381	D	0.987552	D	0.89917	1.0	D	0.79784	0.993	T	0.68096	-0.5499	9	.	.	.	.	13.8515	0.63499	0.6021:0.3978:0.0:0.0	.	585	Q6JEL2	KLH10_HUMAN	W	585	ENSP00000293303:R585W	.	R	+	1	2	KLHL10	37258011	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.850000	0.27737	0.375000	0.24679	0.655000	0.94253	CGG		0.453	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		4	145	0	0	0	1	0	4	145				
TMCC2	9911	broad.mit.edu	37	1	205210851	205210851	+	Silent	SNP	C	C	T	rs140397839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205210851C>T	ENST00000358024.3	+	2	815	c.426C>T	c.(424-426)ccC>ccT	p.P142P	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.P64P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	142						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15421	0.0		0.0	False		,,,				2504	0.001					ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(424-426)ccC>ccT		transmembrane and coiled-coil domain family 2		C	,	0,4404		0,0,2202	52.0	44.0	47.0		192,426	-2.5	0.9	1	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMCC2	NM_001242925.1,NM_014858.3	,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,	64/632,142/710	205210851	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205210851C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.426C>T	1.37:g.205210851C>T						TMCC2_ENST00000545499.1_Silent_p.P64P|TMCC2_ENST00000495538.1_3'UTR	p.P142P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	815	+	Breast(84;0.0871)		142					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.426C>T	CCDS30984.1																																																																																				0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		9	34	0	0	0	1	0	9	34				
CAP2	10486	broad.mit.edu	37	6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.A105T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.A105T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473																																						ENST00000229922.2																			1	Substitution - Missense(1)	p.A105T(1)	lung(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(313-315)Gca>Aca		CAP, adenylate cyclase-associated protein, 2 (yeast)							73.0	74.0	74.0					6																	17507412		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17507412G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.313G>A	6.37:g.17507412G>A	ENSP00000229922:p.Ala105Thr					CAP2_ENST00000465994.1_Missense_Mutation_p.A105T|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	p.A105T	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		5	845	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	105					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.313G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.850919	0.02651	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.11821	2.74;2.74;2.74	5.38	0.545	0.17190	Adenylate cyclase-associated CAP, N-terminal (2);	0.434279	0.27289	N	0.020054	T	0.01353	0.0044	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.11235	0.002;0.003;0.004	B;B;B	0.09377	0.003;0.004;0.003	T	0.47471	-0.9115	10	0.14656	T	0.56	-3.1059	6.7367	0.23413	0.3309:0.0:0.553:0.1162	.	105;79;105	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	T	105;105;79;105	ENSP00000229922:A105T;ENSP00000368275:A79T;ENSP00000418604:A105T	ENSP00000229922:A105T	A	+	1	0	CAP2	17615391	0.000000	0.05858	0.273000	0.24645	0.024000	0.10985	-0.057000	0.11768	0.012000	0.14892	-1.181000	0.01715	GCA		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			19	54	0	0	0	1	0	19	54				
GALK1	2584	broad.mit.edu	37	17	73759207	73759207	+	Missense_Mutation	SNP	C	C	T	rs372078515		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73759207C>T	ENST00000588479.1	-	4	1073	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	GALK1_ENST00000225614.2_Missense_Mutation_p.A167T|GALK1_ENST00000437911.1_Missense_Mutation_p.A197T			P51570	GALK1_HUMAN	galactokinase 1	167					carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACACCTGGGCGCGGGCAGCT	0.612																																						ENST00000588479.1																			0				endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5						c.(499-501)Gcc>Acc		galactokinase 1							51.0	50.0	50.0					17																	73759207		2203	4300	6503	SO:0001583	missense	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73759207C>T		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.499G>A	17.37:g.73759207C>T	ENSP00000465930:p.Ala167Thr					GALK1_ENST00000437911.1_Missense_Mutation_p.A197T|GALK1_ENST00000225614.2_Missense_Mutation_p.A167T	p.A167T			P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1073	-	all_cancers(13;1.5e-07)		167					B2RC07|B4E1G6	Missense_Mutation	SNP	ENST00000588479.1	37	c.499G>A	CCDS11728.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127035	0.94429	.	.	ENSG00000108479	ENST00000225614;ENST00000437911;ENST00000375188	D;D	0.86366	-2.11;-2.11	5.53	5.53	0.82687	Ribosomal protein S5 domain 2-type fold (1);GHMP kinase (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.047110	0.85682	D	0.000000	D	0.93946	0.8062	M	0.89715	3.055	0.80722	D	1	D	0.54207	0.965	P	0.57425	0.82	D	0.94336	0.7566	10	0.56958	D	0.05	-14.0487	19.5272	0.95212	0.0:1.0:0.0:0.0	.	167	P51570	GALK1_HUMAN	T	167;197;270	ENSP00000225614:A167T;ENSP00000406305:A197T	ENSP00000225614:A167T	A	-	1	0	GALK1	71270802	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.409000	0.52657	2.615000	0.88500	0.555000	0.69702	GCC		0.612	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1			26	75	0	0	0	1	0	26	75				
NRXN2	9379	broad.mit.edu	37	11	64434790	64434790	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64434790C>T	ENST00000377551.1	-	8	1941	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	NRXN2_ENST00000409571.1_Missense_Mutation_p.R570Q|NRXN2_ENST00000377559.3_Missense_Mutation_p.R546Q|NRXN2_ENST00000265459.6_Missense_Mutation_p.R577Q			Q9P2S2	NRX2A_HUMAN	neurexin 2	577	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTGGATGCCCGCAGCTTGAT	0.597																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(1729-1731)cGg>cAg		neurexin 2							95.0	84.0	88.0					11																	64434790		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64434790C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1730G>A	11.37:g.64434790C>T	ENSP00000366774:p.Arg577Gln					NRXN2_ENST00000377559.3_Missense_Mutation_p.R546Q|NRXN2_ENST00000377551.1_Missense_Mutation_p.R577Q|NRXN2_ENST00000409571.1_Missense_Mutation_p.R570Q	p.R577Q	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			9	2191	-			577			Laminin G-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1730G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579025	0.65878	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.175369	0.23380	U	0.048805	T	0.56093	0.1962	L	0.44542	1.39	0.40406	D	0.9797	P;P;P	0.50943	0.928;0.798;0.94	B;B;B	0.41332	0.295;0.235;0.354	T	0.63341	-0.6659	10	0.87932	D	0	.	8.5749	0.33592	0.0:0.8967:0.0:0.1033	.	546;577;323	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	Q	577;546;577;546;570	ENSP00000366774:R577Q;ENSP00000366782:R546Q;ENSP00000265459:R577Q;ENSP00000386416:R570Q	ENSP00000265459:R577Q	R	-	2	0	NRXN2	64191366	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.090000	0.50191	2.392000	0.81423	0.462000	0.41574	CGG		0.597	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		7	140	0	0	0	1	0	7	140				
PLEC	5339	broad.mit.edu	37	8	144993838	144993838	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144993838G>A	ENST00000322810.4	-	32	10731	c.10562C>T	c.(10561-10563)aCg>aTg	p.T3521M	PLEC_ENST00000356346.3_Missense_Mutation_p.T3370M|PLEC_ENST00000398774.2_Missense_Mutation_p.T3352M|PLEC_ENST00000436759.2_Missense_Mutation_p.T3411M|PLEC_ENST00000527096.1_Missense_Mutation_p.T3407M|PLEC_ENST00000345136.3_Missense_Mutation_p.T3384M|PLEC_ENST00000354958.2_Missense_Mutation_p.T3362M|PLEC_ENST00000354589.3_Missense_Mutation_p.T3384M|PLEC_ENST00000357649.2_Missense_Mutation_p.T3388M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3521	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCGCAGCCGTTGTGGCTCT	0.687																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10561-10563)aCg>aTg		plectin							13.0	15.0	15.0					8																	144993838		1973	4085	6058	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993838G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10562C>T	8.37:g.144993838G>A	ENSP00000323856:p.Thr3521Met					PLEC_ENST00000527096.1_Missense_Mutation_p.T3407M|PLEC_ENST00000354958.2_Missense_Mutation_p.T3362M|PLEC_ENST00000357649.2_Missense_Mutation_p.T3388M|PLEC_ENST00000354589.3_Missense_Mutation_p.T3384M|PLEC_ENST00000345136.3_Missense_Mutation_p.T3384M|PLEC_ENST00000398774.2_Missense_Mutation_p.T3352M|PLEC_ENST00000436759.2_Missense_Mutation_p.T3411M|PLEC_ENST00000356346.3_Missense_Mutation_p.T3370M	p.T3521M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10731	-			3521			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10562C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	4.603	0.111966	0.08831	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.86	3.98	0.46160	.	0.000000	0.64402	U	0.000005	D	0.85788	0.5778	M	0.80508	2.5	0.54753	D	0.999985	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.80764	0.989;0.989;0.989;0.994;0.989;0.989;0.989;0.989	D	0.87786	0.2615	10	0.72032	D	0.01	.	14.2157	0.65792	0.0:0.0:0.8492:0.1508	.	3411;3370;3362;3521;3352;3384;3388;3384	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	3384;3388;3384;3352;3521;3362;3370;3411;3407	ENSP00000344848:T3384M;ENSP00000350277:T3388M;ENSP00000346602:T3384M;ENSP00000381756:T3352M;ENSP00000323856:T3521M;ENSP00000347044:T3362M;ENSP00000348702:T3370M;ENSP00000388180:T3411M;ENSP00000434583:T3407M	ENSP00000323856:T3521M	T	-	2	0	PLEC	145065826	1.000000	0.71417	0.813000	0.32504	0.001000	0.01503	9.571000	0.98176	1.253000	0.44018	-0.332000	0.08345	ACG		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	35	0	0	0	1	0	13	35				
KRT81	3887	broad.mit.edu	37	12	52681014	52681014	+	Silent	SNP	G	G	A	rs572546241		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52681014G>A	ENST00000327741.5	-	7	1187	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	373	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCAGGGCGCCCTCCAGCT	0.642													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17911	0.0		0.0	False		,,,				2504	0.0					ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(1117-1119)ggC>ggT		keratin 81							54.0	50.0	51.0					12																	52681014		2203	4297	6500	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681014G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1119C>T	12.37:g.52681014G>A						KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.G373G	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1187	-			373			Coil 2.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.1119C>T	CCDS31805.1																																																																																				0.642	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		21	87	0	0	0	1	0	21	87				
DGKB	1607	broad.mit.edu	37	7	14647099	14647099	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:14647099G>A	ENST00000403951.2	-	17	1815	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C	DGKB_ENST00000399322.3_Missense_Mutation_p.R466C|DGKB_ENST00000407950.1_Missense_Mutation_p.R458C|DGKB_ENST00000444700.2_Missense_Mutation_p.R447C|DGKB_ENST00000258767.5_Missense_Mutation_p.R466C|DGKB_ENST00000402815.1_Missense_Mutation_p.R465C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.R466C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R466G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TAAACCTGACGAGGATTTAAT	0.279																																						ENST00000403951.2																			1	Substitution - Missense(1)	p.R466G(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1396-1398)Cgt>Tgt		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						51.0	48.0	49.0					7																	14647099		1786	4052	5838	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14647099G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1396C>T	7.37:g.14647099G>A	ENSP00000385780:p.Arg466Cys					DGKB_ENST00000406247.3_Missense_Mutation_p.R466C|DGKB_ENST00000402815.1_Missense_Mutation_p.R465C|DGKB_ENST00000258767.5_Missense_Mutation_p.R466C|DGKB_ENST00000444700.2_Missense_Mutation_p.R447C|DGKB_ENST00000399322.3_Missense_Mutation_p.R466C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458C	p.R466C			Q9Y6T7	DGKB_HUMAN			17	1815	-			466			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1396C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032001	0.75504	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.6	5.6	0.85130	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;0.997;0.999;1.0	T	0.71836	-0.4472	10	0.66056	D	0.02	.	14.772	0.69688	0.0:0.0:0.8556:0.1444	.	465;447;466;466	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	C	466;466;466;465;458;447;466	ENSP00000385780:R466C;ENSP00000382260:R466C;ENSP00000258767:R466C;ENSP00000384909:R465C;ENSP00000385031:R458C;ENSP00000388451:R447C;ENSP00000386066:R466C	ENSP00000258767:R466C	R	-	1	0	DGKB	14613624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.070000	0.57548	2.786000	0.95864	0.561000	0.74099	CGT		0.279	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		13	24	0	0	0	1	0	13	24				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	134	0	0	0	1	0	4	134				
C12orf77	196415	broad.mit.edu	37	12	25149160	25149160	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:25149160C>T	ENST00000549828.1	-	2	321	c.117G>A	c.(115-117)ctG>ctA	p.L39L	C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TATAATTTGTCAGACGGGCAA	0.423																																						ENST00000549828.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(115-117)ctG>ctA		chromosome 12 open reading frame 77							138.0	134.0	136.0					12																	25149160		1940	4151	6091	SO:0001819	synonymous_variant	196415							g.chr12:25149160C>T	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.117G>A	12.37:g.25149160C>T						C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	p.L39L	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN			2	321	-			39						Silent	SNP	ENST00000549828.1	37	c.117G>A	CCDS44846.1																																																																																				0.423	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339		4	106	0	0	0	1	0	4	106				
BCL11B	64919	broad.mit.edu	37	14	99641823	99641823	+	Silent	SNP	C	C	T	rs375880436		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:99641823C>T	ENST00000357195.3	-	4	1359	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	BCL11B_ENST00000345514.2_Silent_p.T379T|BCL11B_ENST00000443726.2_Silent_p.T256T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	450					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCTCGCCCGTGTGACTGC	0.647			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1135-1137)acG>acA		B-cell CLL/lymphoma 11B (zinc finger protein)		C	,	1,4403	2.1+/-5.4	0,1,2201	29.0	29.0	29.0		1137,1350	0.4	1.0	14		29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BCL11B	NM_022898.1,NM_138576.2	,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,	379/824,450/895	99641823	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641823C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1350G>A	14.37:g.99641823C>T						BCL11B_ENST00000357195.3_Silent_p.T450T|BCL11B_ENST00000443726.2_Silent_p.T256T	p.T379T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1403	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	450					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1137G>A	CCDS9950.1																																																																																				0.647	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		13	30	0	0	0	1	0	13	30				
TMC5	79838	broad.mit.edu	37	16	19488820	19488820	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:19488820G>A	ENST00000396229.2	+	13	2898	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	TMC5_ENST00000541464.1_Missense_Mutation_p.V665M|TMC5_ENST00000564959.1_Missense_Mutation_p.V400M|TMC5_ENST00000561503.1_Missense_Mutation_p.V358M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.V717M|TMC5_ENST00000219821.5_Missense_Mutation_p.V471M|TMC5_ENST00000381414.4_Missense_Mutation_p.V717M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	717					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAACACCGTGGCCCTGTC	0.413																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2149-2151)Gtg>Atg		transmembrane channel-like 5							266.0	243.0	251.0					16																	19488820		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19488820G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2149G>A	16.37:g.19488820G>A	ENSP00000379531:p.Val717Met					TMC5_ENST00000541464.1_Missense_Mutation_p.V665M|TMC5_ENST00000564959.1_Missense_Mutation_p.V400M|TMC5_ENST00000219821.5_Missense_Mutation_p.V471M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.V358M|TMC5_ENST00000542583.2_Missense_Mutation_p.V717M|TMC5_ENST00000381414.4_Missense_Mutation_p.V717M	p.V717M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			13	2898	+			717					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2149G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622811	0.66787	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71934	-0.33;-0.27;-0.48;-0.48;-0.61	4.33	4.33	0.51752	.	.	.	.	.	D	0.83991	0.5374	M	0.78049	2.395	0.44880	D	0.997895	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.943;1.0;0.999;0.999;1.0	D	0.86183	0.1607	9	0.56958	D	0.05	-16.2195	16.7528	0.85490	0.0:0.0:1.0:0.0	.	665;400;471;471;717;717	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	M	665;717;717;717;471;400	ENSP00000441227:V665M;ENSP00000370822:V717M;ENSP00000379531:V717M;ENSP00000446274:V717M;ENSP00000219821:V471M	ENSP00000219821:V471M	V	+	1	0	TMC5	19396321	1.000000	0.71417	0.830000	0.32933	0.601000	0.36947	5.430000	0.66501	2.112000	0.64535	0.655000	0.94253	GTG		0.413	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		31	64	0	0	0	1	0	31	64				
HIST2H2BE	8349	broad.mit.edu	37	1	149857821	149857821	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:149857821T>C	ENST00000369155.2	-	1	411	c.370A>G	c.(370-372)Agc>Ggc	p.S124G	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	124					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CACTTGGAGCTGGTGTACTTG	0.657																																						ENST00000369155.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(370-372)Agc>Ggc		histone cluster 2, H2be							30.0	35.0	34.0					1																	149857821		2202	4299	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149857821T>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.370A>G	1.37:g.149857821T>C	ENSP00000358151:p.Ser124Gly						p.S124G	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	411	-	Breast(34;0.0124)|all_hematologic(923;0.127)		124					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.370A>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.915855	0.92178	.	.	ENSG00000184678	ENST00000369155	T	0.24538	1.85	6.07	6.07	0.98685	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	M	0.69823	2.125	0.39573	D	0.969318	D	0.63046	0.992	D	0.71870	0.975	T	0.43491	-0.9388	10	0.87932	D	0	.	15.47	0.75434	0.0:0.0:0.0:1.0	.	124	Q16778	H2B2E_HUMAN	G	124	ENSP00000358151:S124G	ENSP00000358151:S124G	S	-	1	0	HIST2H2BE	148124445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.330000	0.79161	0.477000	0.44152	AGC		0.657	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		19	71	0	0	0	1	0	19	71				
CAND2	23066	broad.mit.edu	37	3	12856694	12856694	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12856694C>T	ENST00000456430.2	+	8	1102	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	CAND2_ENST00000295989.5_Missense_Mutation_p.A261V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	354					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGCCGGGCAGCTGCCAAG	0.597																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1060-1062)gCa>gTa		cullin-associated and neddylation-dissociated 2 (putative)							57.0	64.0	61.0					3																	12856694		2145	4252	6397	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856694C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1061C>T	3.37:g.12856694C>T	ENSP00000387641:p.Ala354Val					CAND2_ENST00000295989.5_Missense_Mutation_p.A261V	p.A354V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			8	1102	+			354					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1061C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291207	0.95546	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.11169	2.8;2.8	4.86	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.076940	0.51477	D	0.000096	T	0.41236	0.1150	M	0.91612	3.225	0.80722	D	1	D;D	0.67145	0.991;0.996	P;D	0.73380	0.889;0.98	T	0.52771	-0.8531	10	0.62326	D	0.03	-17.5145	15.4782	0.75501	0.0:1.0:0.0:0.0	.	354;261	O75155;O75155-2	CAND2_HUMAN;.	V	261;354	ENSP00000295989:A261V;ENSP00000387641:A354V	ENSP00000295989:A261V	A	+	2	0	CAND2	12831694	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.722000	0.84778	2.231000	0.72958	0.561000	0.74099	GCA		0.597	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		19	49	0	0	0	1	0	19	49				
CKMT2	1160	broad.mit.edu	37	5	80548556	80548556	+	Silent	SNP	C	C	T	rs200789133		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:80548556C>T	ENST00000424301.2	+	4	433	c.195C>T	c.(193-195)gcC>gcT	p.A65A	CKMT2_ENST00000254035.4_Silent_p.A65A|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Silent_p.A65A|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	65	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTGCATGGCCGAGTGCCTCA	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19266	0.0		0.0	False		,,,				2504	0.0					ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(193-195)gcC>gcT		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						100.0	86.0	91.0					5																	80548556		2203	4300	6503	SO:0001819	synonymous_variant	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80548556C>T		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.195C>T	5.37:g.80548556C>T						CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.A65A|CKMT2_ENST00000437669.1_Silent_p.A65A|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000512287.1_RNA	p.A65A	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	4	433	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	65			Phosphagen kinase N-terminal.		Q6ICS8|Q8N1E1	Silent	SNP	ENST00000424301.2	37	c.195C>T	CCDS4053.1																																																																																				0.622	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		21	62	0	0	0	1	0	21	62				
GPR98	84059	broad.mit.edu	37	5	90149114	90149114	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90149114C>T	ENST00000405460.2	+	80	17314	c.17218C>T	c.(17218-17220)Ctt>Ttt	p.L5740F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1401F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5740					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAAACCATCCTTGATAGTTG	0.353																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17218-17220)Ctt>Ttt		G protein-coupled receptor 98							109.0	108.0	108.0					5																	90149114		1855	4088	5943	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149114C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17218C>T	5.37:g.90149114C>T	ENSP00000384582:p.Leu5740Phe					GPR98_ENST00000425867.2_Missense_Mutation_p.L1401F	p.L5740F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17314	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5740					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.17218C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744022	0.69418	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.34072	1.39;1.38	5.4	3.6	0.41247	.	0.063003	0.64402	N	0.000009	T	0.46014	0.1371	M	0.72894	2.215	0.58432	D	0.999999	D;P;D	0.56521	0.959;0.618;0.976	P;B;P	0.53401	0.535;0.142;0.725	T	0.42982	-0.9419	9	.	.	.	.	8.5771	0.33605	0.0:0.7682:0.0:0.2318	.	1401;5740;1401	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	F	5740;5740;1401	ENSP00000384582:L5740F;ENSP00000392618:L1401F	.	L	+	1	0	GPR98	90184870	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.718000	0.38001	1.247000	0.43917	0.655000	0.94253	CTT		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	108	0	0	0	1	0	4	108				
FAM47C	442444	broad.mit.edu	37	X	37028757	37028757	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:37028757C>T	ENST00000358047.3	+	1	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	758								p.R758R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632																																						ENST00000358047.3																			2	Substitution - coding silent(2)	p.R758R(2)	lung(2)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2272-2274)cgC>cgT		family with sequence similarity 47, member C							46.0	44.0	45.0					X																	37028757		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028757C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2274C>T	X.37:g.37028757C>T							p.R758R	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2326	+			758					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2274C>T	CCDS35227.1																																																																																				0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	62	0	0	0	1	0	12	62				
MYH7	4625	broad.mit.edu	37	14	23884341	23884341	+	Missense_Mutation	SNP	C	C	T	rs369940645		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23884341C>T	ENST00000355349.3	-	37	5584	c.5422G>A	c.(5422-5424)Ggc>Agc	p.G1808S	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1808					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTTCTTGCCGCCCTTGAGG	0.622																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(5422-5424)Ggc>Agc		myosin, heavy chain 7, cardiac muscle, beta		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	76.0	77.0	76.0		5422	5.3	1.0	14		76	0,8600		0,0,4300	no	missense	MYH7	NM_000257.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1808/1936	23884341	1,13005	2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884341C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5422G>A	14.37:g.23884341C>T	ENSP00000347507:p.Gly1808Ser						p.G1808S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	37	5584	-	all_cancers(95;2.54e-05)		1808					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5422G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701261	0.88924	2.27E-4	0.0	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80480	-1.38	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.91153	0.7214	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91092	0.4907	9	0.48119	T	0.1	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	1808	P12883	MYH7_HUMAN	S	1808;1813	ENSP00000347507:G1808S	ENSP00000347507:G1808S	G	-	1	0	MYH7	22954181	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.764000	0.68826	2.750000	0.94351	0.563000	0.77884	GGC		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		44	110	0	0	0	1	0	44	110				
WNT2B	7482	broad.mit.edu	37	1	113057604	113057604	+	Silent	SNP	C	C	T	rs535167553		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:113057604C>T	ENST00000369684.4	+	2	776	c.291C>T	c.(289-291)ggC>ggT	p.G97G	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Silent_p.G5G|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Silent_p.G78G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	97					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAGTGGGCGAGGGTGCCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17803	0.001		0.0	False		,,,				2504	0.0					ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(289-291)ggC>ggT		wingless-type MMTV integration site family, member 2B							95.0	80.0	85.0					1																	113057604		2203	4300	6503	SO:0001819	synonymous_variant	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113057604C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.291C>T	1.37:g.113057604C>T						WNT2B_ENST00000369686.4_Silent_p.G78G|WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_Silent_p.G5G	p.G97G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	776	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	97					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	ENST00000369684.4	37	c.291C>T	CCDS847.1																																																																																				0.622	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		20	61	0	0	0	1	0	20	61				
CADPS	8618	broad.mit.edu	37	3	62385086	62385086	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62385086C>T	ENST00000383710.4	-	30	4406	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N|CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1353	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(4057-4059)Gat>Aat		Ca++-dependent secretion activator							184.0	164.0	170.0					3																	62385086		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62385086C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.4057G>A	3.37:g.62385086C>T	ENSP00000373215:p.Asp1353Asn					CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N|CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N	p.D1353N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	30	4406	-		Lung SC(41;0.0452)	1353			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.4057G>A	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899203	0.52227	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.52526	0.66;0.7;0.69	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	N	0.11927	0.2	0.80722	D	1	P;P;P;B	0.47106	0.89;0.89;0.824;0.33	B;B;B;B	0.40901	0.343;0.343;0.186;0.084	T	0.38112	-0.9676	10	0.66056	D	0.02	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	1274;1314;1353;1358	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	N	1359;1353;1274;1314	ENSP00000373215:D1353N;ENSP00000350632:D1274N;ENSP00000283269:D1314N	ENSP00000283269:D1314N	D	-	1	0	CADPS	62360126	1.000000	0.71417	0.762000	0.31397	0.506000	0.33950	5.554000	0.67294	2.776000	0.95493	0.655000	0.94253	GAT		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		30	74	0	0	0	1	0	30	74				
DKKL1	27120	broad.mit.edu	37	19	49878142	49878142	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49878142C>T	ENST00000221498.2	+	5	991	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	DKKL1_ENST00000594268.1_Missense_Mutation_p.R54C|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	196					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAAGCGACACCGCCTGCAGGC	0.662																																						ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(586-588)Cgc>Tgc		dickkopf-like 1							28.0	30.0	29.0					19																	49878142		2203	4300	6503	SO:0001583	missense	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49878142C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"""cancer/testis antigen 34"", ""soggy"""	605418	"""dickkopf-like 1 (soggy)"""			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.586C>T	19.37:g.49878142C>T	ENSP00000221498:p.Arg196Cys					DKKL1_ENST00000594268.1_Missense_Mutation_p.R54C|AC010524.2_ENST00000599433.1_RNA	p.R196C	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	5	991	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	196						Missense_Mutation	SNP	ENST00000221498.2	37	c.586C>T	CCDS12762.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104365	0.76983	.	.	ENSG00000104901	ENST00000221498	T	0.21191	2.02	4.15	4.15	0.48705	.	0.000000	0.46145	D	0.000301	T	0.40694	0.1127	L	0.57536	1.79	0.49798	D	0.99982	D	0.89917	1.0	D	0.87578	0.998	T	0.19031	-1.0318	10	0.87932	D	0	-28.2624	12.2307	0.54486	0.0:1.0:0.0:0.0	.	196	Q9UK85	DKKL1_HUMAN	C	196	ENSP00000221498:R196C	ENSP00000221498:R196C	R	+	1	0	DKKL1	54569954	0.999000	0.42202	0.999000	0.59377	0.992000	0.81027	1.983000	0.40648	2.616000	0.88540	0.655000	0.94253	CGC		0.662	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		13	37	0	0	0	1	0	13	37				
LOC100130331	100130331	broad.mit.edu	37	1	238090718	238090718	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:238090718G>A	ENST00000450451.1	+	0	2224					NR_027247.2																						GATCCTCACCGAGCGTGGCTA	0.612																																						ENST00000450451.1																			0																																																			0							g.chr1:238090718G>A																													1.37:g.238090718G>A								NR_027247.2						0	2224	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.612	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			10	24	0	0	0	1	0	10	24				
ABCG8	64241	broad.mit.edu	37	2	44100941	44100941	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:44100941C>T	ENST00000272286.2	+	9	1317	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	409					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AGATTTCCAACGACTTCCGAG	0.542																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1225-1227)aaC>aaT		ATP-binding cassette, sub-family G (WHITE), member 8							179.0	177.0	178.0					2																	44100941		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44100941C>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1227C>T	2.37:g.44100941C>T							p.N409N	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			9	1317	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	409					Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1227C>T	CCDS1815.1																																																																																				0.542	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		54	98	0	0	0	1	0	54	98				
DLC1	10395	broad.mit.edu	37	8	13356944	13356944	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:13356944T>C	ENST00000276297.4	-	2	1046	c.637A>G	c.(637-639)Act>Gct	p.T213A	DLC1_ENST00000316609.5_Missense_Mutation_p.T213A|DLC1_ENST00000511869.1_Missense_Mutation_p.T213A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	213					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						ACGTTCAAAGTATCCACTGCA	0.383																																						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.(637-639)Act>Gct		deleted in liver cancer 1							152.0	148.0	150.0					8																	13356944		2203	4300	6503	SO:0001583	missense	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.chr8:13356944T>C	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.637A>G	8.37:g.13356944T>C	ENSP00000276297:p.Thr213Ala					DLC1_ENST00000511869.1_Missense_Mutation_p.T213A|DLC1_ENST00000316609.5_Missense_Mutation_p.T213A	p.T213A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			2	1046	-			213					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.637A>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	T	2.966	-0.213432	0.06140	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.28454	1.61;1.61;1.61	4.84	-2.8	0.05823	.	0.387217	0.19032	N	0.124519	T	0.14570	0.0352	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13594	0.001;0.008;0.0	B;B;B	0.09377	0.004;0.003;0.0	T	0.09840	-1.0656	10	0.46703	T	0.11	.	1.0015	0.01478	0.4714:0.1597:0.1368:0.2321	.	213;213;213	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	A	213	ENSP00000276297:T213A;ENSP00000321034:T213A;ENSP00000425878:T213A	ENSP00000276297:T213A	T	-	1	0	DLC1	13401315	0.095000	0.21747	0.006000	0.13384	0.028000	0.11728	0.396000	0.20867	-0.190000	0.10465	-0.438000	0.05819	ACT		0.383	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	229	0	0	0	1	0	5	229				
ARMC4	55130	broad.mit.edu	37	10	28272875	28272875	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:28272875G>A	ENST00000305242.5	-	6	808	c.716C>T	c.(715-717)cCg>cTg	p.P239L	ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000239715.3_Missense_Mutation_p.P96L|ARMC4_ENST00000545014.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	239					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTCTCCACGGTGGGGCTCG	0.408																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(715-717)cCg>cTg		armadillo repeat containing 4							65.0	62.0	63.0					10																	28272875		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28272875G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.716C>T	10.37:g.28272875G>A	ENSP00000306410:p.Pro239Leu					ARMC4_ENST00000239715.3_Missense_Mutation_p.P96L	p.P239L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			6	808	-			239					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.716C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470806	0.84533	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.70869	-0.09;-0.47;-0.52	5.67	4.73	0.59995	.	0.114744	0.64402	D	0.000010	D	0.83848	0.5343	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85944	0.1460	10	0.87932	D	0	-9.2246	13.1946	0.59730	0.081:0.0:0.919:0.0	.	239	Q5T2S8	ARMC4_HUMAN	L	239;133;96	ENSP00000306410:P239L;ENSP00000398155:P133L;ENSP00000239715:P96L	ENSP00000239715:P96L	P	-	2	0	ARMC4	28312881	1.000000	0.71417	0.993000	0.49108	0.873000	0.50193	5.866000	0.69590	1.301000	0.44836	0.655000	0.94253	CCG		0.408	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		6	41	0	0	0	1	0	6	41				
ARRDC5	645432	broad.mit.edu	37	19	4902802	4902802	+	Silent	SNP	G	G	A	rs376349632		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4902802G>A	ENST00000381781.2	-	1	77	c.78C>T	c.(76-78)ccC>ccT	p.P26P	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTCTATCCTCGGGCAGCACTA	0.552																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(76-78)ccC>ccT		arrestin domain containing 5		G		1,3809		0,1,1904	88.0	83.0	85.0		78	3.0	0.6	19		85	0,8250		0,0,4125	no	coding-synonymous	ARRDC5	NM_001080523.1		0,1,6029	AA,AG,GG		0.0,0.0262,0.0083		26/343	4902802	1,12059	1905	4125	6030	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4902802G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.78C>T	19.37:g.4902802G>A							p.P26P	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	1	77	-			26						Silent	SNP	ENST00000381781.2	37	c.78C>T	CCDS45929.1																																																																																				0.552	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		5	110	0	0	0	1	0	5	110				
LRP1B	53353	broad.mit.edu	37	2	141356218	141356218	+	Silent	SNP	G	G	A	rs374730975		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141356218G>A	ENST00000389484.3	-	43	8147	c.7176C>T	c.(7174-7176)taC>taT	p.Y2392Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2392					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGATCCATCGTATTCACACC	0.353										TSP Lung(27;0.18)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17487	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7174-7176)taC>taT		low density lipoprotein receptor-related protein 1B		G		1,4405	2.1+/-5.4	0,1,2202	133.0	122.0	125.0		7176	-1.1	1.0	2		125	0,8600		0,0,4300	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2392/4600	141356218	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141356218G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7176C>T	2.37:g.141356218G>A		TSP Lung(27;0.18)					p.Y2392Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	43	8147	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2392					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.7176C>T	CCDS2182.1																																																																																				0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	26	0	0	0	1	0	4	26				
MAP3K10	4294	broad.mit.edu	37	19	40719433	40719433	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40719433C>T	ENST00000253055.3	+	9	2135	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	616					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGAGTTCGCGGAGGCAGAG	0.711																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1846-1848)gCg>gTg		mitogen-activated protein kinase kinase kinase 10							15.0	17.0	16.0					19																	40719433		2200	4294	6494	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719433C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1847C>T	19.37:g.40719433C>T	ENSP00000253055:p.Ala616Val						p.A616V	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			9	2135	+			616					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1847C>T	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989822	0.35131	.	.	ENSG00000130758	ENST00000253055	T	0.75050	-0.9	4.49	4.49	0.54785	.	5.215570	0.00582	N	0.000330	T	0.68357	0.2992	L	0.39898	1.24	0.38511	D	0.948467	P	0.49961	0.93	B	0.35039	0.194	T	0.62784	-0.6781	10	0.34782	T	0.22	.	14.6516	0.68800	0.0:1.0:0.0:0.0	.	616	Q02779	M3K10_HUMAN	V	616	ENSP00000253055:A616V	ENSP00000253055:A616V	A	+	2	0	MAP3K10	45411273	0.913000	0.31002	0.999000	0.59377	0.283000	0.27025	3.223000	0.51231	2.040000	0.60383	0.313000	0.20887	GCG		0.711	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		10	23	0	0	0	1	0	10	23				
ASB13	79754	broad.mit.edu	37	10	5691016	5691016	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:5691016G>A	ENST00000357700.6	-	4	460	c.434C>T	c.(433-435)gCg>gTg	p.A145V	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	145					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCAATCGTGCGCTTCCAGATT	0.537																																						ENST00000357700.6																			0				NS(1)|endometrium(3)|lung(3)|ovary(1)	8						c.(433-435)gCg>gTg		ankyrin repeat and SOCS box containing 13							129.0	114.0	119.0					10																	5691016		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5691016G>A	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.434C>T	10.37:g.5691016G>A	ENSP00000350331:p.Ala145Val					ASB13_ENST00000479033.1_5'UTR	p.A145V	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	4	460	-			145					A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.434C>T	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205275	0.58234	.	.	ENSG00000196372	ENST00000357700	T	0.67865	-0.29	4.7	4.7	0.59300	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	N	0.21282	0.65	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.80764	0.994;0.786	T	0.74970	-0.3482	10	0.49607	T	0.09	-27.1388	17.2425	0.87017	0.0:0.0:1.0:0.0	.	145;145	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	V	145	ENSP00000350331:A145V	ENSP00000350331:A145V	A	-	2	0	ASB13	5731022	1.000000	0.71417	0.955000	0.39395	0.110000	0.19582	9.370000	0.97159	2.169000	0.68431	0.313000	0.20887	GCG		0.537	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			44	105	0	0	0	1	0	44	105				
KCNN4	3783	broad.mit.edu	37	19	44278577	44278577	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44278577C>T	ENST00000262888.3	-	3	845	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	150					calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	GGGACAGCAGCGCTTCCCCTT	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(448-450)gcG>gcA		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						12.0	13.0	13.0					19																	44278577		2182	4284	6466	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44278577C>T	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.450G>A	19.37:g.44278577C>T			OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922		p.A150A	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			3	845	-		Prostate(69;0.0352)	150					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.450G>A	CCDS12630.1																																																																																				0.731	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		3	9	0	0	0	1	0	3	9				
USP31	57478	broad.mit.edu	37	16	23080212	23080212	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23080212G>A	ENST00000219689.7	-	16	3213	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	USP31_ENST00000567975.1_Missense_Mutation_p.R365C	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCGGGAGCGGGAGGGCTTT	0.557																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3214-3216)Cgc>Tgc		ubiquitin specific peptidase 31							59.0	65.0	63.0					16																	23080212		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080212G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3214C>T	16.37:g.23080212G>A	ENSP00000219689:p.Arg1072Cys					USP31_ENST00000567975.1_Missense_Mutation_p.R365C	p.R1072C	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3213	-			1072			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3214C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060109	0.55432	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.08634	3.07	5.25	4.3	0.51218	.	3.180680	0.00997	N	0.003619	T	0.09598	0.0236	L	0.32530	0.975	0.51012	D	0.999903	B;B;B	0.29037	0.231;0.033;0.231	B;B;B	0.22601	0.04;0.005;0.04	T	0.25363	-1.0134	10	0.87932	D	0	-17.5167	8.1286	0.31014	0.0791:0.0:0.7647:0.1562	.	375;1072;365	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	C	1072;375	ENSP00000219689:R1072C	ENSP00000219689:R1072C	R	-	1	0	USP31	22987713	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.248000	0.51430	1.458000	0.47871	0.557000	0.71058	CGC		0.557	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		30	90	0	0	0	1	0	30	90				
AEBP2	121536	broad.mit.edu	37	12	19653128	19653128	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:19653128G>T	ENST00000398864.3	+	5	1298	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	AEBP2_ENST00000360995.4_Missense_Mutation_p.K208N|AEBP2_ENST00000541908.1_Missense_Mutation_p.K195N|AEBP2_ENST00000266508.9_Missense_Mutation_p.K424N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	424	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTTTAGGGAAGGGACACAGTG	0.328																																						ENST00000266508.9																			0				ovary(1)	1						c.(1270-1272)aaG>aaT		AE binding protein 2							84.0	77.0	79.0					12																	19653128		1848	4090	5938	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19653128G>T		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1272G>T	12.37:g.19653128G>T	ENSP00000381840:p.Lys424Asn					AEBP2_ENST00000541908.1_Missense_Mutation_p.K195N|AEBP2_ENST00000360995.4_Missense_Mutation_p.K208N|AEBP2_ENST00000398864.3_Missense_Mutation_p.K424N	p.K424N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			5	1273	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		424			Interaction with SUZ12.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.1272G>T	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	3.488	-0.104524	0.06967	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995;ENST00000512223;ENST00000398731	T;T;T;T	0.68479	-0.33;-0.14;-0.33;-0.22	4.94	4.04	0.47022	.	.	.	.	.	T	0.30696	0.0773	N	0.01267	-0.92	0.42735	D	0.99372	B	0.21520	0.057	B	0.14023	0.01	T	0.07443	-1.0772	9	0.17832	T	0.49	-9.8311	4.3489	0.11146	0.2357:0.185:0.5793:0.0	.	424	Q6ZN18	AEBP2_HUMAN	N	195;424;358;424;208;34;22	ENSP00000437983:K195N;ENSP00000381840:K424N;ENSP00000266508:K424N;ENSP00000354267:K208N	ENSP00000266508:K424N	K	+	3	2	AEBP2	19544395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.761000	0.26489	1.075000	0.40932	0.561000	0.74099	AAG		0.328	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		3	5	1	0	0.004672	1	0.00472882	3	5				
ITGB6	3694	broad.mit.edu	37	2	160994350	160994350	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:160994350C>T	ENST00000283249.2	-	10	1492	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	ITGB6_ENST00000428609.2_Missense_Mutation_p.V377M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V419M|ITGB6_ENST00000409872.1_Missense_Mutation_p.V419M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	419					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCACAGTCACGCTGAAGGAA	0.478																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1255-1257)Gtg>Atg		integrin, beta 6							40.0	40.0	40.0					2																	160994350		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994350C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1255G>A	2.37:g.160994350C>T	ENSP00000283249:p.Val419Met					ITGB6_ENST00000409872.1_Missense_Mutation_p.V419M|ITGB6_ENST00000409967.2_Missense_Mutation_p.V419M|ITGB6_ENST00000428609.2_Missense_Mutation_p.V377M	p.V419M			P18564	ITB6_HUMAN			10	1492	-			419					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1255G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485712	0.44147	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.09	5.09	0.68999	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73401	0.3582	M	0.83774	2.66	0.58432	D	0.999995	B;B	0.27068	0.167;0.167	B;B	0.26770	0.073;0.073	T	0.75291	-0.3369	10	0.66056	D	0.02	.	14.5698	0.68203	0.1467:0.8532:0.0:0.0	.	377;419	E9PEE8;P18564	.;ITB6_HUMAN	M	419;377;419;419	ENSP00000283249:V419M;ENSP00000408024:V377M;ENSP00000386828:V419M;ENSP00000386367:V419M	ENSP00000283249:V419M	V	-	1	0	ITGB6	160702596	0.782000	0.28689	0.967000	0.41034	0.976000	0.68499	1.533000	0.36040	2.528000	0.85240	0.655000	0.94253	GTG		0.478	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		17	43	0	0	0	1	0	17	43				
PLEC	5339	broad.mit.edu	37	8	145001706	145001706	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145001706G>A	ENST00000322810.4	-	27	4208	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLEC_ENST00000356346.3_Missense_Mutation_p.R1196C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1178C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1237C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1233C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1210C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1188C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1210C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1214C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1347	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTAGTAACGCAGCTGGCGG	0.721																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4039-4041)Cgt>Tgt		plectin							8.0	9.0	9.0					8																	145001706		1820	3919	5739	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001706G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4039C>T	8.37:g.145001706G>A	ENSP00000323856:p.Arg1347Cys					PLEC_ENST00000527096.1_Missense_Mutation_p.R1233C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1188C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1214C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1210C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1210C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1178C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1237C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1196C	p.R1347C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4208	-			1347			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.4039C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983672	0.35036	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.1	5.1	0.69264	.	0.678091	0.13447	U	0.387183	T	0.42471	0.1204	L	0.48642	1.525	0.49915	D	0.999835	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;P;P;P;P;P;P;P	0.60682	0.878;0.878;0.878;0.759;0.878;0.878;0.878;0.878	T	0.22417	-1.0217	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.1447:0.8552:0.0	.	1237;1196;1188;1347;1178;1210;1214;1210	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	1210;1214;1210;1178;1347;1188;1196;1237;1233	ENSP00000344848:R1210C;ENSP00000350277:R1214C;ENSP00000346602:R1210C;ENSP00000381756:R1178C;ENSP00000323856:R1347C;ENSP00000347044:R1188C;ENSP00000348702:R1196C;ENSP00000388180:R1237C;ENSP00000434583:R1233C	ENSP00000323856:R1347C	R	-	1	0	PLEC	145073694	0.894000	0.30519	1.000000	0.80357	0.863000	0.49368	0.600000	0.24104	2.358000	0.79984	0.501000	0.49751	CGT		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	25	0	0	0	1	0	8	25				
DUOX1	53905	broad.mit.edu	37	15	45448007	45448007	+	Silent	SNP	G	G	A	rs148179597		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:45448007G>A	ENST00000321429.4	+	29	3989	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Silent_p.T840T|DUOX1_ENST00000389037.3_Silent_p.T1194T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1194	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCCTCACGGGGGTTGTGC	0.577																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(3580-3582)acG>acA		dual oxidase 1		G	,	1,4395	2.1+/-5.4	0,1,2197	132.0	127.0	129.0		3582,3582	-5.9	0.9	15	dbSNP_134	129	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	,	1194/1552,1194/1552	45448007	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45448007G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3582G>A	15.37:g.45448007G>A						DUOX1_ENST00000389037.3_Silent_p.T1194T|DUOX1_ENST00000561166.1_Silent_p.T840T|CTD-2651B20.1_ENST00000558039.1_lincRNA	p.T1194T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	29	3989	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1194			Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.3582G>A	CCDS32221.1																																																																																				0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		4	144	0	0	0	1	0	4	144				
SDSL	113675	broad.mit.edu	37	12	113875851	113875851	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113875851G>A	ENST00000403593.4	+	8	1219	c.957G>A	c.(955-957)ctG>ctA	p.L319L	SDSL_ENST00000345635.4_Silent_p.L319L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	319					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GCCGAGAGCTGCAGGCTTTGA	0.622																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(955-957)ctG>ctA		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						105.0	111.0	109.0					12																	113875851		2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113875851G>A	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.957G>A	12.37:g.113875851G>A						SDSL_ENST00000345635.4_Silent_p.L319L	p.L319L			Q96GA7	SDSL_HUMAN			8	1219	+			319						Silent	SNP	ENST00000403593.4	37	c.957G>A	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.407253	0.01155	.	.	ENSG00000139410	ENST00000546672	.	.	.	4.51	-5.39	0.02664	.	.	.	.	.	T	0.35885	0.0947	.	.	.	0.48511	D	0.999669	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	-13.682	1.487	0.02449	0.222:0.3662:0.1323:0.2795	.	.	.	.	Y	215	.	.	C	+	2	0	SDSL	112360234	0.001000	0.12720	0.383000	0.26132	0.010000	0.07245	-1.754000	0.01816	-0.923000	0.03785	-1.074000	0.02243	TGC		0.622	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		5	233	0	0	0	1	0	5	233				
ALKBH5	54890	broad.mit.edu	37	17	18088302	18088302	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18088302C>T	ENST00000399138.4	+	1	750	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	ALKBH5_ENST00000541285.1_Intron|RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	249					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCTGCCGGTGCGCAGGGGAAG	0.637																																					Ovarian(166;154 1953 40235 46283 46309)	ENST00000399138.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10						c.(745-747)Cgc>Tgc		alkB, alkylation repair homolog 5 (E. coli)							61.0	70.0	67.0					17																	18088302		2038	4179	6217	SO:0001583	missense	54890					integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:18088302C>T	AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.745C>T	17.37:g.18088302C>T	ENSP00000382091:p.Arg249Cys					ALKBH5_ENST00000541285.1_Intron	p.R249C	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN			1	750	+	all_neural(463;0.228)		249					B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	ENST00000399138.4	37	c.745C>T	CCDS42272.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872547	0.72180	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	T	0.12465	2.68	5.55	3.42	0.39159	.	0.230719	0.41712	D	0.000838	T	0.12220	0.0297	L	0.40543	1.245	0.47737	D	0.999505	D	0.63880	0.993	B	0.43916	0.436	T	0.00749	-1.1582	10	0.72032	D	0.01	-4.5526	8.4502	0.32866	0.2127:0.7004:0.0:0.0869	.	249	Q6P6C2-2	.	C	249;238;249	ENSP00000382091:R249C	ENSP00000261650:R249C	R	+	1	0	ALKBH5	18029027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.811000	0.47986	2.619000	0.88677	0.655000	0.94253	CGC		0.637	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132069.3	NM_017758		48	118	0	0	0	1	0	48	118				
MUC4	4585	broad.mit.edu	37	3	195516082	195516082	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:195516082G>A	ENST00000463781.3	-	2	2828	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	MUC4_ENST00000475231.1_Missense_Mutation_p.P790L|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	795					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAGGCCGGTTCGCTGGT	0.612																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2368-2370)cCg>cTg		mucin 4, cell surface associated							94.0	106.0	102.0					3																	195516082		2182	4267	6449	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516082G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2369C>T	3.37:g.195516082G>A	ENSP00000417498:p.Pro790Leu					MUC4_ENST00000475231.1_Missense_Mutation_p.P790L|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.P790L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2828	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	795					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2369C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	5.712	0.315925	0.10789	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.57595	0.39;0.42	2.5	-0.601	0.11638	.	1.871960	0.02971	N	0.144402	T	0.29716	0.0742	N	0.14661	0.345	0.09310	N	1	P;P	0.35011	0.48;0.48	B;B	0.27500	0.08;0.033	T	0.11446	-1.0587	10	0.36615	T	0.2	.	2.417	0.04438	0.2908:0.0:0.4467:0.2625	.	790;795	E7ESK3;Q99102	.;MUC4_HUMAN	L	790;790;764	ENSP00000417498:P790L;ENSP00000420243:P790L	ENSP00000376209:P764L	P	-	2	0	MUC4	197000477	0.005000	0.15991	0.000000	0.03702	0.149000	0.21700	2.342000	0.43992	-0.147000	0.11254	-0.325000	0.08501	CCG		0.612	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		28	90	0	0	0	1	0	28	90				
EGR1	1958	broad.mit.edu	37	5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652																																						ENST00000239938.4																			1	Substitution - Missense(1)	p.A182T(1)	kidney(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(544-546)Gcc>Acc		early growth response 1							111.0	114.0	113.0					5																	137802682		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137802682G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.544G>A	5.37:g.137802682G>A	ENSP00000239938:p.Ala182Thr						p.A182T	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	816	+			182						Missense_Mutation	SNP	ENST00000239938.4	37	c.544G>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932384	0.92389	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.20598	2.06	4.23	4.23	0.50019	.	0.072868	0.56097	D	0.000024	T	0.13114	0.0318	N	0.14661	0.345	0.25062	N	0.991055	B	0.06786	0.001	B	0.09377	0.004	T	0.18116	-1.0347	10	0.59425	D	0.04	-23.8891	10.8733	0.46896	0.0:0.0:0.1586:0.8413	.	182	P18146	EGR1_HUMAN	T	182	ENSP00000239938:A182T	ENSP00000239938:A182T	A	+	1	0	EGR1	137830581	0.797000	0.28877	0.132000	0.22025	0.700000	0.40528	1.159000	0.31749	0.507000	0.28148	-0.824000	0.03097	GCC		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		37	236	0	0	0	1	0	37	236				
BYSL	705	broad.mit.edu	37	6	41900303	41900303	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41900303C>T	ENST00000230340.4	+	7	1548	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	391					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592																																						ENST00000230340.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8						c.(1171-1173)gcC>gcT		bystin-like							93.0	93.0	93.0					6																	41900303		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41900303C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.1173C>T	6.37:g.41900303C>T							p.A391A	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1548	+	Colorectal(47;0.121)		391					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.1173C>T	CCDS34450.1																																																																																				0.592	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			44	106	0	0	0	1	0	44	106				
RNF13	11342	broad.mit.edu	37	3	149678734	149678734	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:149678734G>A	ENST00000344229.3	+	11	1691	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RNF13_ENST00000392894.3_Missense_Mutation_p.R330H|RNF13_ENST00000361785.6_Missense_Mutation_p.R211H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	330					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCGGAATCCCGCTCACATCAG	0.413																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(988-990)cGc>cAc		ring finger protein 13							90.0	80.0	83.0					3																	149678734		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149678734G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.989G>A	3.37:g.149678734G>A	ENSP00000341361:p.Arg330His					RNF13_ENST00000392894.3_Missense_Mutation_p.R330H|RNF13_ENST00000361785.6_Missense_Mutation_p.R211H	p.R330H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		11	1691	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	330					A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.989G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	5.063	0.197258	0.09599	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000361785;ENST00000482083	T;T;T;T;T	0.12774	3.67;3.67;2.69;2.65;2.69	5.52	-1.68	0.08212	.	0.399450	0.29631	N	0.011615	T	0.05502	0.0145	N	0.02916	-0.46	0.29475	N	0.856771	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.20840	-1.0263	10	0.40728	T	0.16	-1.388	13.7771	0.63059	0.895:0.0:0.105:0.0	.	211;330	B3KR12;O43567	.;RNF13_HUMAN	H	330;330;211;211;211	ENSP00000376628:R330H;ENSP00000341361:R330H;ENSP00000420667:R211H;ENSP00000355268:R211H;ENSP00000418863:R211H	ENSP00000341361:R330H	R	+	2	0	RNF13	151161424	0.897000	0.30589	0.987000	0.45799	0.847000	0.48162	1.009000	0.29886	-0.327000	0.08551	-0.355000	0.07637	CGC		0.413	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		21	48	0	0	0	1	0	21	48				
CADM3	57863	broad.mit.edu	37	1	159170689	159170689	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159170689G>A	ENST00000368125.4	+	9	1331	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000415675.2_RNA|CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Missense_Mutation_p.D426N	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	392					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1174-1176)Gac>Aac		cell adhesion molecule 3							86.0	83.0	84.0					1																	159170689		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170689G>A	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1174G>A	1.37:g.159170689G>A	ENSP00000357107:p.Asp392Asn					CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.D426N|CADM3_ENST00000497636.1_3'UTR	p.D392N	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			9	1331	+	all_hematologic(112;0.0429)		392					Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.1174G>A	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680064	0.88542	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.53640	0.61;0.65	3.81	3.81	0.43845	.	0.000000	0.64402	D	0.000001	T	0.43722	0.1260	L	0.27053	0.805	0.58432	D	0.999999	D;P	0.76494	0.999;0.918	D;B	0.68353	0.957;0.268	T	0.49890	-0.8891	10	0.62326	D	0.03	.	13.2211	0.59887	0.0:0.0:1.0:0.0	.	392;426	Q8N126;Q8N126-2	CADM3_HUMAN;.	N	426;392	ENSP00000357106:D426N;ENSP00000357107:D392N	ENSP00000357106:D426N	D	+	1	0	CADM3	157437313	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.148000	0.77389	1.965000	0.57142	0.591000	0.81541	GAC		0.612	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		18	79	0	0	0	1	0	18	79				
DYNC1H1	1778	broad.mit.edu	37	14	102482350	102482350	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102482350G>A	ENST00000360184.4	+	36	7564	c.7400G>A	c.(7399-7401)cGc>cAc	p.R2467H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2467					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGGCCTGCCGCAACGTGGCG	0.617																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7399-7401)cGc>cAc		dynein, cytoplasmic 1, heavy chain 1							58.0	45.0	50.0					14																	102482350		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482350G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7400G>A	14.37:g.102482350G>A	ENSP00000348965:p.Arg2467His						p.R2467H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			36	7564	+			2467					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7400G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867078	0.91511	.	.	ENSG00000197102	ENST00000360184	T	0.59906	0.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	L	0.42245	1.32	0.80722	D	1	D	0.56746	0.977	P	0.45610	0.487	T	0.62191	-0.6906	10	0.62326	D	0.03	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	2467	Q14204	DYHC1_HUMAN	H	2467	ENSP00000348965:R2467H	ENSP00000348965:R2467H	R	+	2	0	DYNC1H1	101552103	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.632000	0.98428	2.768000	0.95171	0.561000	0.74099	CGC		0.617	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	18	0	0	0	1	0	7	18				
CEACAM16	388551	broad.mit.edu	37	19	45211237	45211237	+	Missense_Mutation	SNP	G	G	A	rs187740201	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211237G>A	ENST00000405314.2	+	5	1142	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.A349T			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	349					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCTGGTCTACGCCTGGTACCG	0.682													G|||	4	0.000798722	0.0	0.0	5008	,	,		16701	0.004		0.0	False		,,,				2504	0.0					ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1045-1047)Gcc>Acc		carcinoembryonic antigen-related cell adhesion molecule 16							12.0	13.0	13.0					19																	45211237		2093	4195	6288	SO:0001583	missense	388551							g.chr19:45211237G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1045G>A	19.37:g.45211237G>A	ENSP00000385576:p.Ala349Thr					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.A349T	p.A349T	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1260	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	349					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.1045G>A	CCDS54278.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	17.58	3.424360	0.62733	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.65178	-0.14	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59046	0.2165	N	0.20881	0.62	0.33065	D	0.534547	D	0.89917	1.0	D	0.91635	0.999	T	0.63576	-0.6606	9	0.18276	T	0.48	-36.6248	15.7789	0.78243	0.0:0.0:1.0:0.0	.	408	Q2WEN9	CEA16_HUMAN	T	414;349	ENSP00000385576:A349T	ENSP00000379974:A414T	A	+	1	0	CEACAM16	49903077	0.991000	0.36638	0.994000	0.49952	0.998000	0.95712	2.377000	0.44300	2.788000	0.95919	0.650000	0.86243	GCC		0.682	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		6	13	0	0	0	1	0	6	13				
USH2A	7399	broad.mit.edu	37	1	215848693	215848693	+	Missense_Mutation	SNP	C	C	T	rs147304271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215848693C>T	ENST00000307340.3	-	63	12946	c.12560G>A	c.(12559-12561)cGc>cAc	p.R4187H	USH2A_ENST00000366943.2_Missense_Mutation_p.R4187H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4187	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTCATAGCGAATTATTTT	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12559-12561)cGc>cAc		Usher syndrome 2A (autosomal recessive, mild)		C	HIS/ARG	0,4406		0,0,2203	104.0	105.0	105.0		12560	3.0	1.0	1	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	no	missense	USH2A	NM_206933.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	4187/5203	215848693	2,13004	2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848693C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12560G>A	1.37:g.215848693C>T	ENSP00000305941:p.Arg4187His	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R4187H	p.R4187H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12946	-			4187			Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12560G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271439	0.40194	0.0	2.33E-4	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	5.25	2.97	0.34412	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.322240	0.22456	N	0.059838	T	0.35828	0.0945	L	0.28400	0.85	0.26011	N	0.981996	B	0.22211	0.066	B	0.17722	0.019	T	0.15350	-1.0440	10	0.15499	T	0.54	.	10.6408	0.45592	0.0:0.766:0.0:0.234	.	4187	O75445	USH2A_HUMAN	H	4187	ENSP00000305941:R4187H;ENSP00000355910:R4187H	ENSP00000305941:R4187H	R	-	2	0	USH2A	213915316	0.977000	0.34250	0.987000	0.45799	0.987000	0.75469	0.246000	0.18160	1.183000	0.42943	0.650000	0.86243	CGC		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	112	0	0	0	1	0	4	112				
CADPS2	93664	broad.mit.edu	37	7	122078450	122078450	+	Silent	SNP	G	G	A	rs376933238		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:122078450G>A	ENST00000449022.2	-	17	2440	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	RP5-1101C3.1_ENST00000592542.1_RNA|CADPS2_ENST00000313070.7_Silent_p.L804L|CADPS2_ENST00000334010.7_Silent_p.L808L|CADPS2_ENST00000412584.2_Silent_p.L804L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	807	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2422-2424)ctC>ctT		Ca++-dependent secretion activator 2							106.0	98.0	100.0					7																	122078450		1927	4126	6053	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122078450G>A		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2421C>T	7.37:g.122078450G>A						CADPS2_ENST00000449022.2_Silent_p.L807L|CADPS2_ENST00000412584.2_Silent_p.L804L|CADPS2_ENST00000313070.7_Silent_p.L804L|RP5-1101C3.1_ENST00000592542.1_RNA	p.L808L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			16	2845	-			807			Interaction with DRD2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2424C>T	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	G	6.125	0.391211	0.11581	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.71	-11.4	0.00090	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8313	8.3483	0.32286	0.1731:0.541:0.1571:0.1289	.	.	.	.	X	453	.	.	R	-	1	2	CADPS2	121865686	0.330000	0.24705	0.455000	0.27031	0.984000	0.73092	-0.426000	0.07008	-2.317000	0.00644	-0.878000	0.02970	CGA		0.453	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		13	25	0	0	0	1	0	13	25				
MAP3K7	6885	broad.mit.edu	37	6	91261842	91261842	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:91261842G>A	ENST00000369329.3	-	8	954	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	MAP3K7_ENST00000369325.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R265C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	265	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|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)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACCAACAACGAGTCATCAGG	0.428																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(793-795)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 7							129.0	126.0	127.0					6																	91261842		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91261842G>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.793C>T	6.37:g.91261842G>A	ENSP00000358335:p.Arg265Cys					MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R265C	p.R265C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	8	954	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	265			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.793C>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463565	0.84425	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.76	4.85	0.62838	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044791	0.85682	D	0.000000	D	0.88994	0.6589	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	0.967;0.994;1.0;0.973	B;P;D;P	0.72625	0.392;0.708;0.978;0.624	D	0.89347	0.3658	10	0.87932	D	0	.	16.7852	0.85572	0.0:0.0:0.8709:0.1291	.	265;265;265;265	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	265;265;265;265;192	ENSP00000358338:R265C;ENSP00000358335:R265C;ENSP00000358331:R265C;ENSP00000358333:R265C	ENSP00000358331:R265C	R	-	1	0	MAP3K7	91318563	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.880000	0.98712	0.650000	0.86243	CGT		0.428	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		19	53	0	0	0	1	0	19	53				
CHRD	8646	broad.mit.edu	37	3	184099097	184099097	+	Silent	SNP	G	G	A	rs540307891		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184099097G>A	ENST00000204604.1	+	3	573	c.327G>A	c.(325-327)ccG>ccA	p.P109P	CHRD_ENST00000348986.3_Silent_p.P109P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.P109P|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	109	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAACCCCGGCCTGTGGGC	0.687																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(325-327)ccG>ccA		chordin							11.0	15.0	14.0					3																	184099097		2196	4291	6487	SO:0001819	synonymous_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099097G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.327G>A	3.37:g.184099097G>A						CHRD_ENST00000450923.1_Silent_p.P109P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Silent_p.P109P|CHRD_ENST00000482805.1_3'UTR	p.P109P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	573	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		109			VWFC 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	ENST00000204604.1	37	c.327G>A	CCDS3266.1																																																																																				0.687	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		3	23	0	0	0	1	0	3	23				
DNAH10	196385	broad.mit.edu	37	12	124416490	124416490	+	Silent	SNP	C	C	A	rs190188682		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124416490C>A	ENST00000409039.3	+	75	12802	c.12777C>A	c.(12775-12777)gcC>gcA	p.A4259A	CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4259					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTAAATAGGCCTTGGCTGGAG	0.483																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12775-12777)gcC>gcA		dynein, axonemal, heavy chain 10							89.0	91.0	91.0					12																	124416490		1937	4124	6061	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124416490C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12777C>A	12.37:g.124416490C>A						DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR	p.A4259A	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	75	12802	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4259					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12777C>A	CCDS9255.2																																																																																				0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	81	1	0	0.217242	1	0.217443	6	81				
TNFSF8	944	broad.mit.edu	37	9	117666341	117666341	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117666341T>C	ENST00000223795.2	-	4	688	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	192					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGCAAGAATTGAGAGAGATT	0.428																																						ENST00000223795.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(574-576)cAa>cGa		tumor necrosis factor (ligand) superfamily, member 8							272.0	241.0	251.0					9																	117666341		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666341T>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.575A>G	9.37:g.117666341T>C	ENSP00000223795:p.Gln192Arg					TNFSF8_ENST00000474301.1_Intron	p.Q192R	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN			4	688	-			192					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.575A>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.663985	0.67700	.	.	ENSG00000106952	ENST00000223795	D	0.95103	-3.61	5.78	5.78	0.91487	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.64402	D	0.000009	D	0.94679	0.8284	L	0.32530	0.975	0.35604	D	0.808098	D	0.76494	0.999	D	0.74674	0.984	D	0.96489	0.9362	10	0.87932	D	0	-12.2837	10.1842	0.42986	0.0:0.0:0.167:0.833	.	192	P32971	TNFL8_HUMAN	R	192	ENSP00000223795:Q192R	ENSP00000223795:Q192R	Q	-	2	0	TNFSF8	116706162	0.990000	0.36364	0.996000	0.52242	0.968000	0.65278	1.710000	0.37920	2.203000	0.70933	0.533000	0.62120	CAA		0.428	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			33	101	0	0	0	1	0	33	101				
CHD5	26038	broad.mit.edu	37	1	6181216	6181216	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6181216G>A	ENST00000262450.3	-	33	4960	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	CHD5_ENST00000378021.1_Missense_Mutation_p.R478W	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCTGGCCGCTCCTCTCGG	0.662																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4861-4863)Cgg>Tgg		chromodomain helicase DNA binding protein 5							41.0	45.0	44.0					1																	6181216		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181216G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4861C>T	1.37:g.6181216G>A	ENSP00000262450:p.Arg1621Trp					CHD5_ENST00000378021.1_Missense_Mutation_p.R478W	p.R1621W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	33	4960	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1621					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4861C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.326099	0.60743	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90844	-2.74;2.2	4.53	2.14	0.27477	.	1.082140	0.07360	U	0.883953	D	0.85155	0.5632	N	0.19112	0.55	0.24058	N	0.996027	D;D	0.64830	0.963;0.994	B;P	0.47376	0.183;0.545	T	0.76162	-0.3060	10	0.72032	D	0.01	-9.1763	5.6044	0.17371	0.1057:0.0:0.3777:0.5166	.	1621;478	Q8TDI0;Q5TG85	CHD5_HUMAN;.	W	1621;1137;478;1029;1029;478	ENSP00000262450:R1621W;ENSP00000367260:R478W	ENSP00000262450:R1621W	R	-	1	2	CHD5	6103803	0.965000	0.33210	0.959000	0.39883	0.954000	0.61252	1.912000	0.39946	0.960000	0.38005	0.472000	0.43445	CGG		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		8	27	0	0	0	1	0	8	27				
SYCP3	50511	broad.mit.edu	37	12	102125434	102125434	+	Missense_Mutation	SNP	C	C	T	rs202152104		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:102125434C>T	ENST00000392927.3	-	7	595	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SYCP3_ENST00000266743.2_Missense_Mutation_p.R155Q|SYCP3_ENST00000392924.1_Missense_Mutation_p.R155Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	155	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTGTTGCTGTCGAAACATATT	0.249													C|||	1	0.000199681	0.0	0.0	5008	,	,		14767	0.001		0.0	False		,,,				2504	0.0					ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(463-465)cGa>cAa		synaptonemal complex protein 3							47.0	46.0	47.0					12																	102125434		2200	4280	6480	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102125434C>T	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.464G>A	12.37:g.102125434C>T	ENSP00000376658:p.Arg155Gln					SYCP3_ENST00000266743.2_Missense_Mutation_p.R155Q|SYCP3_ENST00000392924.1_Missense_Mutation_p.R155Q	p.R155Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			7	595	-			155			Gln-rich.			Missense_Mutation	SNP	ENST00000392927.3	37	c.464G>A	CCDS9087.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.54	1.377816	0.24944	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	4.57	2.73	0.32206	.	0.235594	0.33127	N	0.005260	T	0.27313	0.0670	N	0.19112	0.55	0.52501	D	0.999954	B	0.33777	0.425	B	0.25140	0.058	T	0.19811	-1.0294	9	0.02654	T	1	-0.4485	10.4124	0.44301	0.0:0.8409:0.0:0.1591	.	155	Q8IZU3	SYCP3_HUMAN	Q	155	.	ENSP00000266743:R155Q	R	-	2	0	SYCP3	100649565	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.056000	0.41355	0.637000	0.30526	0.313000	0.20887	CGA		0.249	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		3	18	0	0	0	1	0	3	18				
DNMT3B	1789	broad.mit.edu	37	20	31369195	31369195	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31369195T>C	ENST00000328111.2	+	3	500	c.179T>C	c.(178-180)gTg>gCg	p.V60A	DNMT3B_ENST00000456297.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V60A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V72A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000344505.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V60A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	60	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAGGGAGGTGTCCAGTCTG	0.567																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(178-180)gTg>gCg		DNA (cytosine-5-)-methyltransferase 3 beta							149.0	116.0	127.0					20																	31369195		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31369195T>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.179T>C	20.37:g.31369195T>C	ENSP00000328547:p.Val60Ala					DNMT3B_ENST00000344505.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V60A|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V72A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V60A	p.V60A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			3	500	+			60			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.179T>C	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013803	0.35511	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000375623;ENST00000201963	D;D;D;D;D;D;T;D	0.98249	-4.78;-4.81;-4.76;-4.76;-4.62;-4.65;-0.7;-4.82	4.16	4.16	0.48862	.	0.480164	0.20106	N	0.099126	D	0.96439	0.8838	N	0.24115	0.695	0.34754	D	0.73204	P;B;B;B;B;B	0.49447	0.924;0.077;0.005;0.423;0.005;0.007	P;B;B;B;B;B	0.62298	0.9;0.026;0.014;0.079;0.014;0.009	D	0.94312	0.7546	10	0.02654	T	1	-32.8351	9.8968	0.41322	0.0:0.0:0.0:1.0	.	60;60;72;60;60;60	E9PBF2;E7EN63;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;DNM3B_HUMAN	A	60;146;60;60;60;60;60;60;72	ENSP00000328547:V60A;ENSP00000313397:V60A;ENSP00000337764:V60A;ENSP00000403169:V60A;ENSP00000412305:V60A;ENSP00000345105:V60A;ENSP00000364774:V60A;ENSP00000201963:V72A	ENSP00000201963:V72A	V	+	2	0	DNMT3B	30832856	1.000000	0.71417	0.998000	0.56505	0.453000	0.32348	3.044000	0.49830	2.114000	0.64651	0.383000	0.25322	GTG		0.567	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		4	58	0	0	0	1	0	4	58				
SERPINB11	89778	broad.mit.edu	37	18	61390555	61390555	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:61390555G>A	ENST00000382749.5	+	0	1346				SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A367A(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGTTCAAGGCGAACCACCCCT	0.522																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			1	Substitution - coding silent(1)	p.A367A(1)	central_nervous_system(1)	breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							129.0	121.0	124.0					18																	61390555		2198	4297	6495			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61390555G>A			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390555G>A						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	1163	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37																																																																																						0.522	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		27	80	0	0	0	1	0	27	80				
FSD1	79187	broad.mit.edu	37	19	4310270	4310270	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4310270G>A	ENST00000221856.6	+	5	493	c.346G>A	c.(346-348)Gct>Act	p.A116T	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Splice_Site_p.A116T	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	116	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTCTAGGCTGCCAAGCA	0.527																																						ENST00000221856.6																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.e5-1		fibronectin type III and SPRY domain containing 1							133.0	151.0	145.0					19																	4310270		2203	4300	6503	SO:0001630	splice_region_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4310270G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.346-1G>A	19.37:g.4310270G>A						FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Splice_Site_p.A116_splice	p.A116_splice	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	5	493	+			116			COS.		B2RDT0|Q9BXN0|Q9HAG4	Splice_Site	SNP	ENST00000221856.6	37	c.345_splice	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912400	0.52439	.	.	ENSG00000105255	ENST00000221856	T	0.44083	0.93	5.29	5.29	0.74685	B-box, C-terminal (1);COS domain (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.63843	1.955	0.58432	D	0.999998	D;P	0.55385	0.971;0.647	D;P	0.63283	0.913;0.501	T	0.57039	-0.7879	9	.	.	.	.	16.7733	0.85544	0.0:0.0:1.0:0.0	.	103;116	B4DIC5;Q9BTV5	.;FSD1_HUMAN	T	116	ENSP00000221856:A116T	.	A	+	1	0	FSD1	4261270	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.720000	0.74723	2.644000	0.89710	0.511000	0.50034	GCT		0.527	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	Missense_Mutation	25	293	0	0	0	1	0	25	293				
GPR156	165829	broad.mit.edu	37	3	119900063	119900063	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:119900063A>G	ENST00000464295.1	-	8	1287	c.842T>C	c.(841-843)tTg>tCg	p.L281S	GPR156_ENST00000315843.3_Missense_Mutation_p.L281S|GPR156_ENST00000461057.1_Missense_Mutation_p.L277S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGAATGCAAGTATCTGGT	0.488																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(841-843)tTg>tCg		G protein-coupled receptor 156							87.0	83.0	84.0					3																	119900063		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119900063A>G	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.842T>C	3.37:g.119900063A>G	ENSP00000417261:p.Leu281Ser					GPR156_ENST00000461057.1_Missense_Mutation_p.L277S|GPR156_ENST00000315843.3_Missense_Mutation_p.L281S	p.L281S			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	8	1287	-			281					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.842T>C	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569924	0.86542	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	D;D;D	0.90004	-2.6;-2.6;-2.6	6.08	6.08	0.98989	GPCR, family 3, C-terminal (2);	0.093841	0.45361	D	0.000368	D	0.93236	0.7845	M	0.62088	1.915	0.47037	D	0.999294	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.92704	0.6177	9	.	.	.	-9.7559	15.825	0.78698	1.0:0.0:0.0:0.0	.	277;281	E9PFZ4;Q8NFN8	.;GP156_HUMAN	S	281;281;277	ENSP00000417261:L281S;ENSP00000324553:L281S;ENSP00000418758:L277S	.	L	-	2	0	GPR156	121382753	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	6.835000	0.75344	2.333000	0.79357	0.533000	0.62120	TTG		0.488	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		9	107	0	0	0	1	0	9	107				
WNK1	65125	broad.mit.edu	37	12	989079	989079	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:989079A>G	ENST00000315939.6	+	11	3357	c.2714A>G	c.(2713-2715)cAg>cGg	p.Q905R	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1403R|WNK1_ENST00000340908.4_Missense_Mutation_p.Q498R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	905					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTGTGACTCAGCTGCCAAGT	0.542																																					Colon(19;451 567 6672 12618 28860)	ENST00000315939.6																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2713-2715)cAg>cGg		WNK lysine deficient protein kinase 1							127.0	108.0	114.0					12																	989079		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989079A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2714A>G	12.37:g.989079A>G	ENSP00000313059:p.Gln905Arg					WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.Q498R|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1403R	p.Q905R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3357	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		905					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2714A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753456	0.49362	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.63	5.63	0.86233	.	0.000000	0.56097	D	0.000022	T	0.34629	0.0904	L	0.32530	0.975	0.40591	D	0.981485	D	0.57899	0.981	D	0.67900	0.954	T	0.10337	-1.0634	10	0.59425	D	0.04	-8.2053	14.4097	0.67106	1.0:0.0:0.0:0.0	.	905	Q9H4A3	WNK1_HUMAN	R	905;1403;498;175	ENSP00000313059:Q905R;ENSP00000433548:Q1403R;ENSP00000341292:Q498R;ENSP00000439552:Q175R	ENSP00000313059:Q905R	Q	+	2	0	WNK1	859340	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.294000	0.59043	2.134000	0.65973	0.455000	0.32223	CAG		0.542	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	100	0	0	0	1	0	5	100				
SHH	6469	broad.mit.edu	37	7	155595716	155595716	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:155595716C>T	ENST00000297261.2	-	3	1417	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	423					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCCGGAGCGTCGGCAGCA	0.756																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1267-1269)Gct>Act		sonic hedgehog							7.0	9.0	9.0					7																	155595716		1678	3545	5223	SO:0001583	missense	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155595716C>T		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.1267G>A	7.37:g.155595716C>T	ENSP00000297261:p.Ala423Thr						p.A423T	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1417	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	423					A4D247|Q75MC9	Missense_Mutation	SNP	ENST00000297261.2	37	c.1267G>A	CCDS5942.1	.	.	.	.	.	.	.	.	.	.	C	1.215	-0.628495	0.03610	.	.	ENSG00000164690	ENST00000297261	D	0.99264	-5.65	3.1	3.1	0.35709	Peptidase C46, hedgehog protein, hint region (1);	0.969547	0.08484	N	0.939044	D	0.96839	0.8968	L	0.45581	1.43	0.09310	N	1	B;P	0.35612	0.224;0.512	B;B	0.28638	0.057;0.092	D	0.94170	0.7422	10	0.14252	T	0.57	.	5.7907	0.18359	0.0:0.6834:0.2006:0.1159	.	423;426	Q15465;D9ZGF9	SHH_HUMAN;.	T	423	ENSP00000297261:A423T	ENSP00000297261:A423T	A	-	1	0	SHH	155288477	0.260000	0.24053	0.010000	0.14722	0.009000	0.06853	1.952000	0.40343	1.562000	0.49601	0.561000	0.74099	GCT		0.756	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		8	19	0	0	0	1	0	8	19				
PAN2	9924	broad.mit.edu	37	12	56721408	56721408	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:56721408A>G	ENST00000425394.2	-	6	1035	c.659T>C	c.(658-660)cTg>cCg	p.L220P	PAN2_ENST00000440411.3_Missense_Mutation_p.L220P|PAN2_ENST00000548043.1_Missense_Mutation_p.L220P|PAN2_ENST00000257931.5_Missense_Mutation_p.L220P	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GAGGTCTCTCAGGGAAACCTA	0.453																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(658-660)cTg>cCg		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							59.0	62.0	61.0					12																	56721408		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56721408A>G	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.659T>C	12.37:g.56721408A>G	ENSP00000401721:p.Leu220Pro					PAN2_ENST00000440411.3_Missense_Mutation_p.L220P|PAN2_ENST00000257931.5_Missense_Mutation_p.L220P|PAN2_ENST00000548043.1_Missense_Mutation_p.L220P	p.L220P	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			6	1035	-			220						Missense_Mutation	SNP	ENST00000425394.2	37	c.659T>C	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349198	0.82132	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.84257	0.5432	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.86669	0.1909	10	0.87932	D	0	-8.0843	14.4245	0.67204	1.0:0.0:0.0:0.0	.	220;220;220	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	P	220;220;220;220;81	ENSP00000401721:L220P;ENSP00000388231:L220P;ENSP00000257931:L220P;ENSP00000449861:L220P;ENSP00000449092:L81P	ENSP00000257931:L220P	L	-	2	0	PAN2	55007675	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.274000	0.95731	2.099000	0.63709	0.533000	0.62120	CTG		0.453	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		21	59	0	0	0	1	0	21	59				
C16orf87	388272	broad.mit.edu	37	16	46836915	46836915	+	Silent	SNP	G	G	A	rs368374110		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:46836915G>A	ENST00000285697.4	-	4	675	c.414C>T	c.(412-414)gtC>gtT	p.V138V	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Silent_p.V77V	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	138										large_intestine(4)|urinary_tract(1)	5						CTGCCAAGGCGACTGAAAACA	0.328																																						ENST00000394806.2																			0				large_intestine(4)|urinary_tract(1)	5						c.(229-231)gtC>gtT		chromosome 16 open reading frame 87		G		0,4404		0,0,2202	77.0	74.0	75.0		414	0.6	1.0	16		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C16orf87	NM_001001436.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		138/155	46836915	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	388272							g.chr16:46836915G>A		CCDS10724.1	16q11.2	2008-08-08			ENSG00000155330	ENSG00000155330			33754	protein-coding gene	gene with protein product							Standard	NM_001001436		Approved		uc002eek.1	Q6PH81	OTTHUMG00000132538	ENST00000285697.4:c.414C>T	16.37:g.46836915G>A						C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000285697.4_Silent_p.V138V	p.V77V			Q6PH81	CP087_HUMAN			3	243	-			138					Q63HN9	Silent	SNP	ENST00000285697.4	37	c.231C>T	CCDS10724.1																																																																																				0.328	C16orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255738.2	NM_001001436		8	32	0	0	0	1	0	8	32				
ARID1A	8289	broad.mit.edu	37	1	27101370	27101370	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27101370G>A	ENST00000324856.7	+	18	5023	c.4652G>A	c.(4651-4653)cGc>cAc	p.R1551H	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1168H|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1551					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGCACACGCCAGCCCCCA	0.612			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4651-4653)cGc>cAc		AT rich interactive domain 1A (SWI-like)							43.0	45.0	44.0					1																	27101370		2203	4298	6501	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101370G>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4652G>A	1.37:g.27101370G>A	ENSP00000320485:p.Arg1551His					ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1168H	p.R1551H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	5023	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1551					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4652G>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612012	0.66558	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.03094	4.22;4.05	5.18	5.18	0.71444	.	0.108901	0.64402	D	0.000004	T	0.08492	0.0211	L	0.42245	1.32	0.80722	D	1	P;P;D	0.71674	0.669;0.703;0.998	B;B;P	0.55161	0.138;0.115;0.77	T	0.05484	-1.0882	10	0.46703	T	0.11	-7.1399	12.2365	0.54518	0.0772:0.0:0.9228:0.0	.	1168;1551;1204	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	H	1551;1168	ENSP00000320485:R1551H;ENSP00000363267:R1168H	ENSP00000320485:R1551H	R	+	2	0	ARID1A	26973957	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.144000	0.94629	2.711000	0.92665	0.563000	0.77884	CGC		0.612	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		20	61	0	0	0	1	0	20	61				
MRPS18B	28973	broad.mit.edu	37	6	30593450	30593450	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30593450G>A	ENST00000259873.4	+	7	810	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000329992.8_5'Flank|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	218					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGCCTTCGCCGGCTTTACCAG	0.612																																						ENST00000259873.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						c.(652-654)cGg>cAg		mitochondrial ribosomal protein S18B							98.0	107.0	104.0					6																	30593450		1510	2709	4219	SO:0001583	missense	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593450G>A	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.653G>A	6.37:g.30593450G>A	ENSP00000259873:p.Arg218Gln					MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR	p.R218Q	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN			7	810	+			218					A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	c.653G>A	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381375	0.61845	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.51574	0.7	5.43	5.43	0.79202	.	0.147360	0.43260	D	0.000599	T	0.52419	0.1733	M	0.65975	2.015	0.22531	N	0.999018	D;D	0.89917	1.0;0.996	D;P	0.66847	0.947;0.644	T	0.51028	-0.8757	10	0.72032	D	0.01	.	10.0424	0.42166	0.0887:0.0:0.9113:0.0	.	175;218	Q5STN0;Q9Y676	.;RT18B_HUMAN	Q	218;175	ENSP00000259873:R218Q	ENSP00000259873:R218Q	R	+	2	0	MRPS18B	30701429	0.746000	0.28272	0.954000	0.39281	0.429000	0.31625	1.749000	0.38319	2.825000	0.97269	0.655000	0.94253	CGG		0.612	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			6	178	0	0	0	1	0	6	178				
DIDO1	11083	broad.mit.edu	37	20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:61510982G>A	ENST00000266070.4	-	16	6651	c.6326C>T	c.(6325-6327)gCg>gTg	p.A2109V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2109V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2109	Arg-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCTCGGACGCCCGGCCCTG	0.677																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6325-6327)gCg>gTg		death inducer-obliterator 1							59.0	72.0	68.0					20																	61510982		2194	4278	6472	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61510982G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6326C>T	20.37:g.61510982G>A	ENSP00000266070:p.Ala2109Val					DIDO1_ENST00000395343.1_Missense_Mutation_p.A2109V	p.A2109V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6651	-	Breast(26;5.68e-08)		2109			Arg-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6326C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660475	0.14645	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.44083	0.93;0.93	5.47	-0.383	0.12477	.	0.577931	0.13827	N	0.360013	T	0.32376	0.0827	L	0.51422	1.61	0.18873	N	0.999989	B	0.29508	0.246	B	0.17722	0.019	T	0.14924	-1.0455	10	0.42905	T	0.14	-9.5192	10.8305	0.46656	0.1488:0.4835:0.3678:0.0	.	2109	Q9BTC0	DIDO1_HUMAN	V	2109	ENSP00000266070:A2109V;ENSP00000378752:A2109V	ENSP00000266070:A2109V	A	-	2	0	DIDO1	60981427	0.016000	0.18221	0.001000	0.08648	0.017000	0.09413	0.763000	0.26517	0.010000	0.14839	-0.165000	0.13383	GCG		0.677	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		89	225	0	0	0	1	0	89	225				
NOD1	10392	broad.mit.edu	37	7	30491788	30491788	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30491788G>A	ENST00000222823.4	-	6	1770	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	415	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|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)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGTGCAGTCGGGCAGCTGTG	0.602																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1243-1245)ccC>ccT		nucleotide-binding oligomerization domain containing 1							79.0	75.0	76.0					7																	30491788		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491788G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1245C>T	7.37:g.30491788G>A						NOD1_ENST00000423334.2_3'UTR	p.P415P	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1770	-			415			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1245C>T	CCDS5427.1																																																																																				0.602	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			8	110	0	0	0	1	0	8	110				
MAN2B1	4125	broad.mit.edu	37	19	12767772	12767772	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12767772C>T	ENST00000456935.2	-	12	1558	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.T505T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	506					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGCGCCGCCGTCTGGCTGA	0.562																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1516-1518)acG>acA		mannosidase, alpha, class 2B, member 1							23.0	24.0	24.0					19																	12767772		2203	4300	6503	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12767772C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1518G>A	19.37:g.12767772C>T						MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.T505T	p.T506T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			12	1558	-			506					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1518G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296563	0.40594	.	.	ENSG00000104774	ENST00000433513	.	.	.	5.26	-10.5	0.00291	.	.	.	.	.	T	0.13243	0.0321	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.12372	-1.0550	4	.	.	.	-0.641	0.9116	0.01295	0.1769:0.2165:0.2633:0.3433	.	.	.	.	S	42	.	.	G	-	1	0	MAN2B1	12628772	0.000000	0.05858	0.000000	0.03702	0.795000	0.44927	-4.744000	0.00191	-2.220000	0.00728	0.467000	0.42956	GGC		0.562	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			8	16	0	0	0	1	0	8	16				
CGN	57530	broad.mit.edu	37	1	151503052	151503052	+	Missense_Mutation	SNP	C	C	T	rs370334831		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151503052C>T	ENST00000271636.7	+	13	2534	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGAGGCACGCCTAGAGGA	0.687																																						ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2401-2403)Cgc>Tgc		cingulin							22.0	26.0	25.0					1																	151503052		2200	4297	6497	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151503052C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2401C>T	1.37:g.151503052C>T	ENSP00000271636:p.Arg801Cys						p.R801C	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		13	2534	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		795			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.2401C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226213	0.58668	.	.	ENSG00000143375	ENST00000271636	T	0.69040	-0.37	4.99	1.9	0.25705	.	0.465256	0.24426	N	0.038640	T	0.52853	0.1760	L	0.53249	1.67	0.23492	N	0.997562	D	0.71674	0.998	P	0.49387	0.609	T	0.52540	-0.8562	10	0.72032	D	0.01	-21.5027	12.5597	0.56273	0.5805:0.4195:0.0:0.0	.	795	Q9P2M7	CING_HUMAN	C	801	ENSP00000271636:R801C	ENSP00000271636:R801C	R	+	1	0	CGN	149769676	0.074000	0.21230	0.221000	0.23827	0.891000	0.51852	0.525000	0.22956	0.218000	0.20820	0.557000	0.71058	CGC		0.687	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		4	39	0	0	0	1	0	4	39				
GPC1	2817	broad.mit.edu	37	2	241401916	241401916	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241401916C>T	ENST00000264039.2	+	3	882	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	212					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCGCCTGCGGGCCACCCG	0.711																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(634-636)Cgg>Tgg		glypican 1							10.0	12.0	11.0					2																	241401916		2165	4256	6421	SO:0001583	missense	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241401916C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.634C>T	2.37:g.241401916C>T	ENSP00000264039:p.Arg212Trp						p.R212W	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	882	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	212					B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	c.634C>T	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.239686|3.239686	0.58995|0.58995	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000264039	.|T	.|0.53640	.|0.61	3.11|3.11	2.19|2.19	0.27852|0.27852	.|.	.|0.538029	.|0.17656	.|N	.|0.166494	T|T	0.62270|0.62270	0.2414|0.2414	M|M	0.70595|0.70595	2.14|2.14	0.32039|0.32039	N|N	0.598427|0.598427	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	T|T	0.66575|0.66575	-0.5889|-0.5889	5|10	.|0.87932	.|D	.|0	-9.2824|-9.2824	7.7881|7.7881	0.29103|0.29103	0.451:0.549:0.0:0.0|0.451:0.549:0.0:0.0	.|.	.|212	.|P35052	.|GPC1_HUMAN	V|W	251|212	.|ENSP00000264039:R212W	.|ENSP00000264039:R212W	A|R	+|+	2|1	0|2	GPC1|GPC1	241050589|241050589	0.177000|0.177000	0.23109|0.23109	0.998000|0.998000	0.56505|0.56505	0.951000|0.951000	0.60555|0.60555	0.216000|0.216000	0.17585|0.17585	0.615000|0.615000	0.30124|0.30124	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.711	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		12	26	0	0	0	1	0	12	26				
SMG7	9887	broad.mit.edu	37	1	183511408	183511408	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183511408A>G	ENST00000347615.2	+	14	1732	c.1613A>G	c.(1612-1614)gAc>gGc	p.D538G	SMG7_ENST00000515829.2_Missense_Mutation_p.D538G|SMG7_ENST00000507469.1_Missense_Mutation_p.D538G|SMG7_ENST00000508461.1_Missense_Mutation_p.D496G|SMG7_ENST00000367537.3_Missense_Mutation_p.D567G|SMG7_ENST00000456731.2_Missense_Mutation_p.D496G	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	538					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAACTGTGACACAGGAGAG	0.453																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1699-1701)gAc>gGc		SMG7 nonsense mediated mRNA decay factor							130.0	132.0	131.0					1																	183511408		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183511408A>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1613A>G	1.37:g.183511408A>G	ENSP00000340766:p.Asp538Gly					SMG7_ENST00000507469.1_Missense_Mutation_p.D538G|SMG7_ENST00000508461.1_Missense_Mutation_p.D496G|SMG7_ENST00000456731.2_Missense_Mutation_p.D496G|SMG7_ENST00000515829.2_Missense_Mutation_p.D538G|SMG7_ENST00000347615.2_Missense_Mutation_p.D538G	p.D567G			Q92540	SMG7_HUMAN			15	1895	+			538					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1700A>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353548	0.82243	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.94	4.94	0.65067	.	0.048822	0.85682	D	0.000000	T	0.64853	0.2636	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.69078	0.997;0.993;0.993;0.996;0.997;0.993	D;D;D;D;D;D	0.79784	0.989;0.984;0.984;0.993;0.989;0.984	T	0.65384	-0.6181	10	0.41790	T	0.15	-7.8086	14.8887	0.70590	1.0:0.0:0.0:0.0	.	496;567;496;538;538;538	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	G	496;567;496;496;538;538;538	ENSP00000407629:D496G;ENSP00000356507:D567G;ENSP00000426915:D496G;ENSP00000388390:D496G;ENSP00000340766:D538G;ENSP00000425133:D538G;ENSP00000421358:D538G	ENSP00000340766:D538G	D	+	2	0	SMG7	181778031	1.000000	0.71417	0.948000	0.38648	0.988000	0.76386	8.345000	0.90057	1.963000	0.57068	0.533000	0.62120	GAC		0.453	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		56	122	0	0	0	1	0	56	122				
TNFSF11	8600	broad.mit.edu	37	13	43180811	43180811	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:43180811A>T	ENST00000239849.6	+	5	862	c.711A>T	c.(709-711)caA>caT	p.Q237H	TNFSF11_ENST00000358545.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000405262.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000544862.1_Missense_Mutation_p.Q164H|TNFSF11_ENST00000398795.2_Missense_Mutation_p.Q164H			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	237					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	AGTATCTTCAACTAATGGTGT	0.398																																						ENST00000398795.2																			0				kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(490-492)caA>caT		tumor necrosis factor (ligand) superfamily, member 11							150.0	134.0	139.0					13																	43180811		2203	4300	6503	SO:0001583	missense	0				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding	g.chr13:43180811A>T	AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.711A>T	13.37:g.43180811A>T	ENSP00000239849:p.Gln237His					TNFSF11_ENST00000544862.1_Missense_Mutation_p.Q164H|TNFSF11_ENST00000358545.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000239849.6_Missense_Mutation_p.Q237H|TNFSF11_ENST00000405262.2_Missense_Mutation_p.Q164H	p.Q164H	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	5	860	+		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	237					O14723|Q96Q17|Q9P2Q3	Missense_Mutation	SNP	ENST00000239849.6	37	c.492A>T	CCDS9384.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568421	0.45798	.	.	ENSG00000120659	ENST00000358545;ENST00000405262;ENST00000239849;ENST00000398795;ENST00000544862	D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46	6.04	3.41	0.39046	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.057465	0.64402	D	0.000001	D	0.96106	0.8731	M	0.80616	2.505	0.50171	D	0.999854	D	0.89917	1.0	D	0.85130	0.997	D	0.93552	0.6887	10	0.14252	T	0.57	-26.4153	9.1908	0.37197	0.2722:0.0:0.7278:0.0	.	237	O14788	TNF11_HUMAN	H	164;164;237;164;164	ENSP00000351347:Q164H;ENSP00000384042:Q164H;ENSP00000239849:Q237H;ENSP00000381775:Q164H;ENSP00000444913:Q164H	ENSP00000239849:Q237H	Q	+	3	2	TNFSF11	42078811	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	2.034000	0.41145	0.459000	0.27016	-0.230000	0.12252	CAA		0.398	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2			43	95	0	0	0	1	0	43	95				
C14orf180	400258	broad.mit.edu	37	14	105054176	105054176	+	Missense_Mutation	SNP	C	C	T	rs139748841	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105054176C>T	ENST00000557649.1	+	3	538	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	RP11-614O9.1_ENST00000556073.1_RNA|C14orf180_ENST00000331952.2_Missense_Mutation_p.R68C|C14orf180_ENST00000410013.1_Missense_Mutation_p.R68C			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GACCTCGAGGCGCGTGTGGTT	0.682																																						ENST00000557649.1																			0											c.(202-204)Cgc>Tgc		chromosome 14 open reading frame 180		C	CYS/ARG	0,4398		0,0,2199	28.0	34.0	32.0		202	2.6	0.0	14	dbSNP_134	32	4,8592		0,4,4294	yes	missense	C14orf180	NM_001008404.1	180	0,4,6493	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	68/161	105054176	4,12990	2199	4298	6497	SO:0001583	missense	400258					integral to membrane		g.chr14:105054176C>T		CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"""nutritionally-regulated adipose and cardiac-enriched"""		"""chromosome 14 open reading frame 77"""	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.202C>T	14.37:g.105054176C>T	ENSP00000452502:p.Arg68Cys					C14orf180_ENST00000410013.1_Missense_Mutation_p.R68C|C14orf180_ENST00000331952.2_Missense_Mutation_p.R68C	p.R68C			Q8N912	CN180_HUMAN	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)	3	538	+		Melanoma(154;0.226)	68						Missense_Mutation	SNP	ENST00000557649.1	37	c.202C>T	CCDS32166.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821928	0.50633	0.0	4.65E-4	ENSG00000184601	ENST00000557649;ENST00000331952;ENST00000553873;ENST00000410013	.	.	.	2.61	2.61	0.31194	.	.	.	.	.	T	0.35128	0.0921	L	0.27053	0.805	0.09310	N	1	D;D;D	0.64830	0.994;0.983;0.983	P;P;P	0.53401	0.725;0.556;0.556	T	0.10497	-1.0627	8	0.72032	D	0.01	-10.6472	8.841	0.35142	0.0:1.0:0.0:0.0	.	68;68;68	B4DN93;G3V2Z8;Q8N912	.;.;CN180_HUMAN	C	68	.	ENSP00000333041:R68C	R	+	1	0	C14orf180	104125221	0.185000	0.23213	0.008000	0.14137	0.081000	0.17604	0.905000	0.28504	1.758000	0.51981	0.491000	0.48974	CGC		0.682	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410580.1	NM_001008404		4	13	0	0	0	1	0	4	13				
IFNL2	282616	broad.mit.edu	37	19	39759380	39759380	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39759380C>T	ENST00000331982.5	+	2	129	c.74C>T	c.(73-75)gCa>gTa	p.A25V		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	25					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GTGACTGGAGCAGTTCCTGTC	0.617																																						ENST00000331982.5																			0											c.(73-75)gCa>gTa		interferon, lambda 2							51.0	55.0	53.0					19																	39759380		2200	4300	6500	SO:0001583	missense	282616							g.chr19:39759380C>T	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.74C>T	19.37:g.39759380C>T	ENSP00000333639:p.Ala25Val						p.A25V	NM_172138.1	NP_742150.1					2	129	+								Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	ENST00000331982.5	37	c.74C>T	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065560	0.55539	.	.	ENSG00000183709	ENST00000331982	T	0.18338	2.22	2.97	0.373	0.16178	.	0.382406	0.21911	N	0.067309	T	0.20210	0.0486	M	0.76002	2.32	0.09310	N	1	B	0.31209	0.313	B	0.37780	0.258	T	0.19811	-1.0294	10	0.87932	D	0	1.7974	4.7068	0.12853	0.2527:0.5:0.2472:0.0	.	25	Q8IZJ0	IL28A_HUMAN	V	25	ENSP00000333639:A25V	ENSP00000333639:A25V	A	+	2	0	IL28A	44451220	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	0.104000	0.15313	0.549000	0.28973	0.195000	0.17529	GCA		0.617	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		5	45	0	0	0	1	0	5	45				
EMC10	284361	broad.mit.edu	37	19	50984001	50984001	+	Missense_Mutation	SNP	C	C	T	rs143536282		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50984001C>T	ENST00000334976.6	+	5	612	c.566C>T	c.(565-567)cCg>cTg	p.P189L	EMC10_ENST00000598585.1_Missense_Mutation_p.P189L|EMC10_ENST00000376918.3_Missense_Mutation_p.P189L|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10	189						ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											CAGCTGCAGCCGCCCACCACA	0.716																																						ENST00000376918.3																			0											c.(565-567)cCg>cTg		ER membrane protein complex subunit 10							21.0	24.0	23.0					19																	50984001		2195	4291	6486	SO:0001583	missense	284361							g.chr19:50984001C>T	BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"""hematopoietic signal peptide-containing secreted 1"", ""hematopoietic signal peptide-containing membrane domain-containing 1"""	614545	"""chromosome 19 open reading frame 63"""	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.566C>T	19.37:g.50984001C>T	ENSP00000334037:p.Pro189Leu					CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.P189L|EMC10_ENST00000598585.1_Missense_Mutation_p.P189L	p.P189L	NM_175063.4	NP_778233.4					5	612	+								Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	ENST00000334976.6	37	c.566C>T	CCDS12796.1	.	.	.	.	.	.	.	.	.	.	C	6.848	0.525697	0.13066	.	.	ENSG00000161671	ENST00000334976;ENST00000376918;ENST00000376920	.	.	.	4.16	4.16	0.48862	.	0.125690	0.53938	D	0.000056	T	0.47432	0.1445	L	0.40543	1.245	0.49130	D	0.99975	P;D;P	0.64830	0.951;0.994;0.951	B;P;B	0.51385	0.309;0.668;0.309	T	0.31779	-0.9931	9	0.10902	T	0.67	-28.2643	10.2129	0.43152	0.3118:0.6882:0.0:0.0	.	189;189;189	Q5UCC4;Q5UCC4-2;Q5UCC4-3	INM02_HUMAN;.;.	L	189	.	ENSP00000334037:P189L	P	+	2	0	C19orf63	55675813	0.868000	0.29978	0.929000	0.37066	0.039000	0.13416	1.638000	0.37165	2.249000	0.74217	0.313000	0.20887	CCG		0.716	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464760.2	NM_175063		3	13	0	0	0	1	0	3	13				
NCOR2	9612	broad.mit.edu	37	12	124824936	124824936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124824936G>A	ENST00000405201.1	-	36	5392	c.5392C>T	c.(5392-5394)Cga>Tga	p.R1798*	NCOR2_ENST00000356219.3_Nonsense_Mutation_p.R1805*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.R1359*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.R1789*			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1806					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGGTCTCGCTCCCGCTCG	0.622																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5413-5415)Cga>Tga		nuclear receptor corepressor 2							63.0	74.0	70.0					12																	124824936		2093	4219	6312	SO:0001587	stop_gained	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824936G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5392C>T	12.37:g.124824936G>A	ENSP00000384018:p.Arg1798*					NCOR2_ENST00000405201.1_Nonsense_Mutation_p.R1798*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.R1789*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.R1359*	p.R1805*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	37	5568	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1806					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Nonsense_Mutation	SNP	ENST00000405201.1	37	c.5413C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.735263|10.735263	0.99459|0.99459	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000440187;ENST00000453428|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	.|.	.|.	.|.	3.77|3.77	3.77|3.77	0.43336|0.43336	.|.	.|0.000000	.|0.52532	.|U	.|0.000065	T|.	0.29817|.	0.0745|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30995|.	-0.9959|.	3|.	.|0.07175	.|T	.|0.84	.|.	10.9419|10.9419	0.47278|0.47278	0.0:0.0:0.8123:0.1877|0.0:0.0:0.8123:0.1877	.|.	.|.	.|.	.|.	V|X	32;127|1798;1788;1805;1789;1797;1359;1788	.|.	.|ENSP00000348551:R1805X	A|R	-|-	2|1	0|2	NCOR2|NCOR2	123390889|123390889	0.982000|0.982000	0.34865|0.34865	0.954000|0.954000	0.39281|0.39281	0.081000|0.081000	0.17604|0.17604	1.783000|1.783000	0.38664|0.38664	1.649000|1.649000	0.50652|0.50652	0.491000|0.491000	0.48974|0.48974	GCG|CGA		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		16	44	0	0	0	1	0	16	44				
CCDC112	153733	broad.mit.edu	37	5	114610974	114610974	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:114610974T>C	ENST00000512261.1	-	7	1024	c.608A>G	c.(607-609)gAa>gGa	p.E203G	CCDC112_ENST00000395557.4_Missense_Mutation_p.E203G|CCDC112_ENST00000379611.5_Missense_Mutation_p.E286G|CCDC112_ENST00000503027.1_5'Flank|CCDC112_ENST00000506442.1_Missense_Mutation_p.E203G			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	203										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGTTGAACTTCATCTTGTGT	0.323																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(856-858)gAa>gGa		coiled-coil domain containing 112							78.0	82.0	81.0					5																	114610974		2202	4300	6502	SO:0001583	missense	153733							g.chr5:114610974T>C	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.608A>G	5.37:g.114610974T>C	ENSP00000423712:p.Glu203Gly					CCDC112_ENST00000506442.1_Missense_Mutation_p.E203G|CCDC112_ENST00000395557.4_Missense_Mutation_p.E203G|CCDC112_ENST00000512261.1_Missense_Mutation_p.E203G	p.E286G	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	6	1144	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	203					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.857A>G	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382177	0.82792	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.23552	1.9;1.98;2.05;1.98	6.07	6.07	0.98685	.	0.193845	0.53938	D	0.000052	T	0.29945	0.0749	L	0.52573	1.65	0.44275	D	0.997131	P;P;P	0.46142	0.873;0.873;0.873	B;B;B	0.42361	0.385;0.385;0.298	T	0.02950	-1.1090	10	0.56958	D	0.05	-12.0201	16.3141	0.82909	0.0:0.0:0.0:1.0	.	203;286;203	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	G	286;203;203;203	ENSP00000368931:E286G;ENSP00000423712:E203G;ENSP00000424876:E203G;ENSP00000378925:E203G	ENSP00000368931:E286G	E	-	2	0	CCDC112	114638873	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	6.842000	0.75379	2.326000	0.78906	0.533000	0.62120	GAA		0.323	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		9	58	0	0	0	1	0	9	58				
TMPRSS9	360200	broad.mit.edu	37	19	2408385	2408385	+	Missense_Mutation	SNP	G	G	A	rs571520737		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2408385G>A	ENST00000332578.3	+	7	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	258	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GGTGGCCTACGTGGGTGCGAC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13919	0.0		0.0	False		,,,				2504	0.0					ENST00000332578.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(772-774)Gtg>Atg		transmembrane protease, serine 9							59.0	55.0	56.0					19																	2408385		2203	4299	6502	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408385G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.772G>A	19.37:g.2408385G>A	ENSP00000330264:p.Val258Met						p.V258M	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_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)	7	772	+			258			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.772G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.770797	0.31320	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.89552	-2.53	4.67	3.6	0.41247	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.301114	0.23135	U	0.051540	D	0.86867	0.6036	L	0.35341	1.055	0.09310	N	1	P;D	0.65815	0.949;0.995	P;P	0.57425	0.82;0.775	T	0.76517	-0.2930	10	0.27082	T	0.32	.	7.2687	0.26244	0.0935:0.1736:0.7328:0.0	.	258;292	Q7Z410;E7EMP4	TMPS9_HUMAN;.	M	292;258	ENSP00000330264:V258M	ENSP00000330264:V258M	V	+	1	0	TMPRSS9	2359385	0.000000	0.05858	0.283000	0.24790	0.355000	0.29361	0.653000	0.24902	0.924000	0.37069	0.491000	0.48974	GTG		0.667	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		23	78	0	0	0	1	0	23	78				
ARMC5	79798	broad.mit.edu	37	16	31473606	31473606	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:31473606G>T	ENST00000563544.1	+	4	1284	c.738G>T	c.(736-738)ctG>ctT	p.L246L	ARMC5_ENST00000538189.1_Silent_p.L278L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Silent_p.L246L|ARMC5_ENST00000457010.2_Silent_p.L246L|ARMC5_ENST00000408912.3_Silent_p.L341L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	246										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGAGCTCCTGGCCACTGCCC	0.672																																						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.(736-738)ctG>ctT		armadillo repeat containing 5							30.0	36.0	34.0					16																	31473606		2163	4268	6431	SO:0001819	synonymous_variant	79798						binding	g.chr16:31473606G>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.738G>T	16.37:g.31473606G>T						ARMC5_ENST00000563544.1_Silent_p.L246L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000538189.1_Silent_p.L278L|ARMC5_ENST00000408912.3_Silent_p.L341L|ARMC5_ENST00000268314.4_Silent_p.L246L	p.L246L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			3	1439	+			246					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.738G>T	CCDS45472.1																																																																																				0.672	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		17	34	1	0	1.15088e-07	1	1.18482e-07	17	34				
SLC45A4	57210	broad.mit.edu	37	8	142222365	142222365	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:142222365G>A	ENST00000024061.3	-	7	2386	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	SLC45A4_ENST00000519067.1_Silent_p.S693S|SLC45A4_ENST00000517878.1_Silent_p.S744S|SLC45A4_ENST00000433583.2_Silent_p.S686S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGGCTTTTCGCTGTTCCCAC	0.622																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2077-2079)agC>agT		solute carrier family 45, member 4							36.0	33.0	34.0					8																	142222365		2202	4300	6502	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142222365G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2079C>T	8.37:g.142222365G>A						SLC45A4_ENST00000433583.2_Silent_p.S686S|SLC45A4_ENST00000517878.1_Silent_p.S744S|SLC45A4_ENST00000024061.3_Silent_p.S693S	p.S693S			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2382	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		744					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.2079C>T	CCDS34948.1																																																																																				0.622	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		10	22	0	0	0	1	0	10	22				
KCNJ3	3760	broad.mit.edu	37	2	155711423	155711423	+	Silent	SNP	G	G	A	rs376798806		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:155711423G>A	ENST00000295101.2	+	3	1581	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	368					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCTCATGTCGTCCCCTTTAA	0.408																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1102-1104)tcG>tcA		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						100.0	103.0	102.0					2																	155711423		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711423G>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1104G>A	2.37:g.155711423G>A						KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	p.S368S	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1581	+			368					B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.1104G>A	CCDS2200.1																																																																																				0.408	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		40	111	0	0	0	1	0	40	111				
ABTB1	80325	broad.mit.edu	37	3	127399182	127399182	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127399182C>T	ENST00000232744.8	+	12	1387	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	ABTB1_ENST00000468137.1_Missense_Mutation_p.T292M|ABTB1_ENST00000393363.3_Missense_Mutation_p.T292M|ABTB1_ENST00000453791.2_Missense_Mutation_p.T292M					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGGCAGGAGACGGACTCTATC	0.672																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(874-876)aCg>aTg		ankyrin repeat and BTB (POZ) domain containing 1							43.0	40.0	41.0					3																	127399182		2198	4293	6491	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127399182C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1301C>T	3.37:g.127399182C>T	ENSP00000232744:p.Thr434Met					ABTB1_ENST00000393363.3_Missense_Mutation_p.T292M|ABTB1_ENST00000232744.8_Missense_Mutation_p.T434M|ABTB1_ENST00000453791.2_Missense_Mutation_p.T292M	p.T292M			Q969K4	ABTB1_HUMAN			11	1491	+			434			BTB 2.			Missense_Mutation	SNP	ENST00000232744.8	37	c.875C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180181	0.38511	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.66995	-0.24;-0.04;-0.24;-0.24	4.53	3.63	0.41609	.	0.110120	0.64402	D	0.000010	T	0.74473	0.3721	M	0.83312	2.635	0.58432	D	0.999999	D;P;D	0.63046	0.992;0.944;0.985	P;P;P	0.50659	0.641;0.496;0.647	T	0.75611	-0.3258	10	0.36615	T	0.2	-2.3579	13.4286	0.61042	0.1744:0.8256:0.0:0.0	.	270;434;409	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	M	270;292;434;292;292	ENSP00000377030:T292M;ENSP00000232744:T434M;ENSP00000412684:T292M;ENSP00000417366:T292M	ENSP00000232744:T434M	T	+	2	0	ABTB1	128881872	0.998000	0.40836	0.990000	0.47175	0.303000	0.27691	3.848000	0.55903	0.813000	0.34350	0.591000	0.81541	ACG		0.672	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		3	24	0	0	0	1	0	3	24				
EBAG9	9166	broad.mit.edu	37	8	110576705	110576705	+	Missense_Mutation	SNP	G	G	A	rs200319904	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:110576705G>A	ENST00000337573.5	+	7	859	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	187					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.E187K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAGCAGCCGAACAACAAAG	0.333													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18307	0.001		0.0	False		,,,				2504	0.0					ENST00000337573.5																			2	Substitution - Missense(2)	p.E187K(2)	large_intestine(2)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(559-561)Gaa>Aaa		estrogen receptor binding site associated, antigen, 9							147.0	149.0	148.0					8																	110576705		2203	4300	6503	SO:0001583	missense	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110576705G>A	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.559G>A	8.37:g.110576705G>A	ENSP00000337675:p.Glu187Lys					EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	p.E187K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		7	859	+			187					A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	c.559G>A	CCDS6313.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.189927	0.78789	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64841	-0.6312	9	0.40728	T	0.16	-12.9893	15.179	0.72938	0.0:0.0:0.8579:0.1421	.	187	O00559	RCAS1_HUMAN	K	187;187;187;232	.	ENSP00000337675:E187K	E	+	1	0	EBAG9	110645881	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.714000	0.91412	1.461000	0.47929	0.655000	0.94253	GAA		0.333	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		28	72	0	0	0	1	0	28	72				
PLCB1	23236	broad.mit.edu	37	20	8678365	8678365	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:8678365C>T	ENST00000338037.6	+	11	1129	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	PLCB1_ENST00000378637.2_Missense_Mutation_p.R368W|PLCB1_ENST00000378641.3_Missense_Mutation_p.R368W	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	368	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAAGGGACGGACTGCAGA	0.488																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(1102-1104)Cgg>Tgg		phospholipase C, beta 1 (phosphoinositide-specific)							210.0	179.0	189.0					20																	8678365		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678365C>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1102C>T	20.37:g.8678365C>T	ENSP00000338185:p.Arg368Trp					PLCB1_ENST00000338037.6_Missense_Mutation_p.R368W|PLCB1_ENST00000378637.2_Missense_Mutation_p.R368W	p.R368W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			11	1577	+			368			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1102C>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310342	0.81358	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.53857	0.6;0.6;0.6	5.65	3.46	0.39613	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.73962	2.25	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	T	0.77151	-0.2693	10	0.87932	D	0	.	15.389	0.74726	0.3052:0.6948:0.0:0.0	.	368;368	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	W	368;368;368;288;288	ENSP00000367908:R368W;ENSP00000338185:R368W;ENSP00000367904:R368W	ENSP00000338185:R368W	R	+	1	2	PLCB1	8626365	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	4.035000	0.57297	1.282000	0.44496	0.655000	0.94253	CGG		0.488	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			46	98	0	0	0	1	0	46	98				
FLNB	2317	broad.mit.edu	37	3	58108882	58108882	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:58108882C>T	ENST00000295956.4	+	21	3354	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	FLNB_ENST00000493452.1_Silent_p.I894I|FLNB_ENST00000419752.2_Silent_p.I894I|FLNB_ENST00000348383.5_Silent_p.I1063I|FLNB_ENST00000357272.4_Silent_p.I1063I|FLNB_ENST00000490882.1_Silent_p.I1063I|FLNB_ENST00000358537.3_Silent_p.I1063I|FLNB_ENST00000429972.2_Silent_p.I1063I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1063					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTTCACCATCGATACCAAAG	0.567																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3187-3189)atC>atT		filamin B, beta							141.0	130.0	133.0					3																	58108882		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58108882C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3189C>T	3.37:g.58108882C>T						FLNB_ENST00000419752.2_Silent_p.I894I|FLNB_ENST00000358537.3_Silent_p.I1063I|FLNB_ENST00000295956.4_Silent_p.I1063I|FLNB_ENST00000493452.1_Silent_p.I894I|FLNB_ENST00000490882.1_Silent_p.I1063I|FLNB_ENST00000429972.2_Silent_p.I1063I|FLNB_ENST00000348383.5_Silent_p.I1063I	p.I1063I			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	21	3354	+			1063					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.3189C>T	CCDS2885.1																																																																																				0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		45	133	0	0	0	1	0	45	133				
GJA8	2703	broad.mit.edu	37	1	147380399	147380399	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:147380399G>A	ENST00000369235.1	+	1	317	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJA8_ENST00000240986.4_Missense_Mutation_p.R106H			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	106					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGAGAAGCGCAAAAGCCGC	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(316-318)cGc>cAc		gap junction protein, alpha 8, 50kDa							68.0	65.0	66.0					1																	147380399		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380399G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.317G>A	1.37:g.147380399G>A	ENSP00000358238:p.Arg106His					GJA8_ENST00000369235.1_Missense_Mutation_p.R106H	p.R106H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	370	+	all_hematologic(923;0.0276)		106					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.317G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	17.29	3.351191	0.61183	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99089	-5.41;-5.41	5.2	4.28	0.50868	Connexin, N-terminal (1);	131.512000	0.00465	N	0.000112	D	0.98523	0.9507	L	0.35414	1.06	0.46298	D	0.998971	D	0.89917	1.0	D	0.76071	0.987	D	0.93551	0.6886	10	0.62326	D	0.03	.	10.5982	0.45352	0.1493:0.0:0.8507:0.0	.	106	P48165	CXA8_HUMAN	H	106	ENSP00000240986:R106H;ENSP00000358238:R106H	ENSP00000240986:R106H	R	+	2	0	GJA8	145847023	1.000000	0.71417	0.999000	0.59377	0.731000	0.41821	3.962000	0.56766	2.409000	0.81822	0.491000	0.48974	CGC		0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		33	70	0	0	0	1	0	33	70				
CFAP61	26074	broad.mit.edu	37	20	20232315	20232315	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:20232315G>A	ENST00000245957.5	+	20	2312	c.2236G>A	c.(2236-2238)Ggc>Agc	p.G746S	C20orf26_ENST00000377309.2_Missense_Mutation_p.G102S|C20orf26_ENST00000377293.1_Missense_Mutation_p.G102S|C20orf26_ENST00000389656.3_Missense_Mutation_p.G102S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		746										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAATGACCGGCATAGACCG	0.532																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2236-2238)Ggc>Agc		chromosome 20 open reading frame 26							193.0	162.0	172.0					20																	20232315		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20232315G>A																												ENST00000245957.5:c.2236G>A	20.37:g.20232315G>A	ENSP00000245957:p.Gly746Ser					C20orf26_ENST00000389656.3_Missense_Mutation_p.G102S|C20orf26_ENST00000377293.1_Missense_Mutation_p.G102S|C20orf26_ENST00000377309.2_Missense_Mutation_p.G102S	p.G746S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2312	+			746					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2236G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686431	0.88639	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	6.05	5.11	0.69529	.	0.351400	0.32624	N	0.005847	T	0.24890	0.0604	L	0.31065	0.9	0.28678	N	0.90524	P;B;B	0.46020	0.871;0.436;0.392	P;B;B	0.44696	0.458;0.067;0.055	T	0.09185	-1.0686	10	0.07175	T	0.84	.	15.1002	0.72269	0.0673:0.0:0.9327:0.0	.	726;102;746	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	S	686;102;102;726;746;102	ENSP00000366524:G102S;ENSP00000374307:G102S;ENSP00000245957:G746S;ENSP00000366508:G102S	ENSP00000245957:G746S	G	+	1	0	C20orf26	20180315	1.000000	0.71417	0.532000	0.27989	0.982000	0.71751	3.209000	0.51122	1.565000	0.49641	0.650000	0.86243	GGC		0.532	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			40	94	0	0	0	1	0	40	94				
PML	5371	broad.mit.edu	37	15	74335504	74335504	+	Intron	SNP	C	C	T	rs540260798		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74335504C>T	ENST00000268058.3	+	8	1957				PML_ENST00000395135.3_Missense_Mutation_p.H629Y|PML_ENST00000564428.1_Missense_Mutation_p.H581Y|PML_ENST00000359928.4_3'UTR|PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGCTACCCCCACCCCTTTCT	0.537			T	"""RARA, PAX5"""	"""APL, ALL"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		19025	0.001		0.0	False		,,,				2504	0.0					ENST00000395135.3				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1885-1887)Cac>Tac		promyelocytic leukemia							64.0	64.0	64.0					15																	74335504		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74335504C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1861+24C>T	15.37:g.74335504C>T						PML_ENST00000564428.1_Missense_Mutation_p.H581Y|PML_ENST00000359928.4_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Intron	p.H629Y	NM_002675.3	NP_002666.1	P29590	PML_HUMAN			8	2025	+			0					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1885C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	2.831	-0.242700	0.05906	.	.	ENSG00000140464	ENST00000395135	.	.	.	4.56	-3.73	0.04398	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27468	-1.0073	6	.	.	.	.	10.6426	0.45602	0.0:0.2379:0.0:0.7621	.	581;629	P29590-12;P29590-5	.;.	Y	629	.	.	H	+	1	0	PML	72122557	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.226000	0.02953	-0.522000	0.06417	-0.332000	0.08345	CAC		0.537	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		17	37	0	0	0	1	0	17	37				
PTK7	5754	broad.mit.edu	37	6	43099822	43099822	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43099822G>A	ENST00000230419.4	+	6	1102	c.881G>A	c.(880-882)cGc>cAc	p.R294H	PTK7_ENST00000345201.2_Missense_Mutation_p.R294H|PTK7_ENST00000352931.2_Missense_Mutation_p.R294H|PTK7_ENST00000481273.1_Missense_Mutation_p.R302H|PTK7_ENST00000471863.1_Missense_Mutation_p.R294H|PTK7_ENST00000349241.2_Missense_Mutation_p.R294H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	294	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTCCGGCCACGCAATGCAGGG	0.622																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(880-882)cGc>cAc		protein tyrosine kinase 7							49.0	50.0	50.0					6																	43099822		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43099822G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.881G>A	6.37:g.43099822G>A	ENSP00000230419:p.Arg294His					PTK7_ENST00000349241.2_Missense_Mutation_p.R294H|PTK7_ENST00000345201.2_Missense_Mutation_p.R294H|PTK7_ENST00000481273.1_Missense_Mutation_p.R302H|PTK7_ENST00000471863.1_Missense_Mutation_p.R294H|PTK7_ENST00000352931.2_Missense_Mutation_p.R294H	p.R294H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		6	1102	+			294			Ig-like C2-type 3.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.881G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200363	0.79015	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972;ENST00000481946	T;T;T;T;T;T;T	0.74632	4.76;4.76;4.76;-0.86;-0.86;4.76;4.76	5.64	5.64	0.86602	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.71581	2.175	0.80722	D	1	P;D;D;D;D;P	0.89917	0.948;1.0;1.0;1.0;1.0;0.95	P;D;D;D;D;P	0.87578	0.608;0.998;0.997;0.998;0.993;0.765	D	0.85003	0.0901	10	0.72032	D	0.01	.	18.7019	0.91623	0.0:0.0:1.0:0.0	.	302;294;294;294;294;294	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	H	294;294;294;294;294;302;302;47	ENSP00000230419:R294H;ENSP00000419037:R294H;ENSP00000325462:R294H;ENSP00000326029:R294H;ENSP00000325992:R294H;ENSP00000418754:R302H;ENSP00000420165:R47H	ENSP00000230418:R294H	R	+	2	0	PTK7	43207800	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.265000	0.72534	2.655000	0.90218	0.462000	0.41574	CGC		0.622	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			14	48	0	0	0	1	0	14	48				
RASSF5	83593	broad.mit.edu	37	1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A	rs570039354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:206757996G>A	ENST00000355294.4	+	4	1025	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	RASSF5_ENST00000304534.8_Missense_Mutation_p.R170Q|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000491368.1_3'UTR	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	323	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		20853	0.0		0.0	False		,,,				2504	0.001				GBM(162;656 1984 11916 22872 31529)	ENST00000304534.8																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(508-510)cGg>cAg		Ras association (RalGDS/AF-6) domain family member 5							100.0	92.0	95.0					1																	206757996		2203	4300	6503	SO:0001583	missense	83593				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	g.chr1:206757996G>A	BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.968G>A	1.37:g.206757996G>A	ENSP00000347443:p.Arg323Gln					RASSF5_ENST00000338603.2_Missense_Mutation_p.R323Q|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000355294.4_Missense_Mutation_p.R323Q|RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q	p.R170Q	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		3	918	+	Breast(84;0.183)		323					A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	c.509G>A	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881865	0.51908	.	.	ENSG00000136653	ENST00000355294;ENST00000367117;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.36	2.49	0.30216	Ras-association (3);	0.381500	0.29653	N	0.011550	T	0.27098	0.0664	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B	0.21821	0.061;0.0;0.005;0.014;0.017	B;B;B;B;B	0.23419	0.037;0.001;0.001;0.046;0.009	T	0.08330	-1.0727	10	0.52906	T	0.07	-3.5408	6.0411	0.19734	0.446:0.0:0.554:0.0	.	321;170;323;323;325	E9PDW5;Q8WWW0-2;Q8WWW0-3;Q8WWW0;Q59GG4	.;.;.;RASF5_HUMAN;.	Q	323;323;323;323;170	ENSP00000347443:R323Q;ENSP00000356084:R323Q;ENSP00000342620:R323Q;ENSP00000306091:R170Q	ENSP00000306091:R170Q	R	+	2	0	RASSF5	204824619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.636000	0.37144	0.649000	0.30751	0.561000	0.74099	CGG		0.537	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437		16	57	0	0	0	1	0	16	57				
ITGAL	3683	broad.mit.edu	37	16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30518157C>T	ENST00000356798.6	+	21	2668	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	830					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCTCCTTCCGCAAGGTGGA	0.607																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2488-2490)Cgc>Tgc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						110.0	107.0	108.0					16																	30518157		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518157C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2488C>T	16.37:g.30518157C>T	ENSP00000349252:p.Arg830Cys					ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	p.R830C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			21	2668	+			830					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2488C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	18.18	3.566240	0.65651	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.48836	0.8;0.8	5.2	2.99	0.34606	Integrin alpha-2 (1);	0.000000	0.39341	N	0.001386	T	0.62998	0.2474	M	0.80847	2.515	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.58660	0.843;0.843	T	0.68969	-0.5269	10	0.87932	D	0	.	11.3024	0.49314	0.342:0.658:0.0:0.0	.	746;830	Q96HB1;P20701	.;ITAL_HUMAN	C	830;746	ENSP00000349252:R830C;ENSP00000350886:R746C	ENSP00000349252:R830C	R	+	1	0	ITGAL	30425658	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.680000	0.37607	1.180000	0.42898	0.437000	0.28790	CGC		0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			64	188	0	0	0	1	0	64	188				
ARHGEF18	23370	broad.mit.edu	37	19	7509124	7509124	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7509124G>A	ENST00000359920.6	+	4	1084	c.831G>A	c.(829-831)acG>acA	p.T277T	ARHGEF18_ENST00000319670.9_Silent_p.T119T|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R235H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	277	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ACGTGCGGACGCTCAAGATCA	0.637																																						ENST00000593531.1																			0											c.(703-705)cGc>cAc									62.0	52.0	55.0					19																	7509124		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7509124G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.831G>A	19.37:g.7509124G>A						ARHGEF18_ENST00000319670.9_Silent_p.T119T|ARHGEF18_ENST00000359920.6_Silent_p.T277T	p.R235H							7	704	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.704G>A	CCDS45946.1																																																																																				0.637	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		25	39	0	0	0	1	0	25	39				
FAM76B	143684	broad.mit.edu	37	11	95519329	95519329	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:95519329C>T	ENST00000358780.5	-	4	629	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	FAM76B_ENST00000538047.1_5'Flank|FAM76B_ENST00000536839.1_Missense_Mutation_p.C106Y	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	106						nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTGTTTGCACTGTTCACA	0.373																																						ENST00000358780.5																			0				breast(1)|kidney(1)|lung(1)	3						c.(316-318)tGc>tAc		family with sequence similarity 76, member B							150.0	150.0	150.0					11																	95519329		2105	4269	6374	SO:0001583	missense	143684							g.chr11:95519329C>T		CCDS41700.1	11q21	2008-02-05			ENSG00000077458	ENSG00000077458			28492	protein-coding gene	gene with protein product						12477932	Standard	NM_144664		Approved	MGC33371	uc001pfn.2	Q5HYJ3	OTTHUMG00000167739	ENST00000358780.5:c.317G>A	11.37:g.95519329C>T	ENSP00000351631:p.Cys106Tyr					FAM76B_ENST00000536839.1_Missense_Mutation_p.C106Y	p.C106Y	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN			4	629	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	106					Q6PIU3|Q8TC53	Missense_Mutation	SNP	ENST00000358780.5	37	c.317G>A	CCDS41700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.90|19.90	3.912761|3.912761	0.72983|0.72983	.|.	.|.	ENSG00000077458|ENSG00000077458	ENST00000542135;ENST00000540054;ENST00000537749|ENST00000358780;ENST00000536839	.|.	.|.	.|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84977|0.84977	0.5592|0.5592	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.86000|0.86000	0.1494|0.1494	6|9	0.87932|0.87932	D|D	0|0	-20.977|-20.977	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106	.|Q5HYJ3	.|FA76B_HUMAN	T|Y	10|106	.|.	ENSP00000437366:A10T|ENSP00000351631:C106Y	A|C	-|-	1|2	0|0	FAM76B|FAM76B	95158977|95158977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.755000|7.755000	0.85180|0.85180	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.373	FAM76B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395969.1	NM_144664		30	90	0	0	0	1	0	30	90				
UBE3C	9690	broad.mit.edu	37	7	157049709	157049709	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:157049709T>C	ENST00000348165.5	+	22	3412	c.3052T>C	c.(3052-3054)Tgc>Cgc	p.C1018R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1018	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTAACAAGCTGCTCTCGACC	0.433																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(3052-3054)Tgc>Cgc		ubiquitin protein ligase E3C							144.0	137.0	139.0					7																	157049709		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157049709T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.3052T>C	7.37:g.157049709T>C	ENSP00000309198:p.Cys1018Arg						p.C1018R	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	22	3412	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1018			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.3052T>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212217	0.58452	.	.	ENSG00000009335	ENST00000348165	T	0.59502	0.26	5.67	5.67	0.87782	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78537	-0.2166	10	0.87932	D	0	.	15.9212	0.79575	0.0:0.0:0.0:1.0	.	1018;871	Q15386;B4DHJ9	UBE3C_HUMAN;.	R	1018	ENSP00000309198:C1018R	ENSP00000309198:C1018R	C	+	1	0	UBE3C	156742470	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	7.553000	0.82203	2.155000	0.67459	0.460000	0.39030	TGC		0.433	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		31	82	0	0	0	1	0	31	82				
ICE1	23379	broad.mit.edu	37	5	5462084	5462084	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:5462084G>A	ENST00000296564.7	+	13	2859	c.2637G>A	c.(2635-2637)agG>agA	p.R879R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		879					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACACTTGAGGCCACATAGGG	0.418																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2635-2637)agG>agA		KIAA0947							94.0	91.0	92.0					5																	5462084		1893	4133	6026	SO:0001819	synonymous_variant	23379							g.chr5:5462084G>A																												ENST00000296564.7:c.2637G>A	5.37:g.5462084G>A							p.R879R	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2859	+			879					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.2637G>A	CCDS47187.1																																																																																				0.418	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			29	91	0	0	0	1	0	29	91				
CYFIP2	26999	broad.mit.edu	37	5	156741353	156741353	+	Splice_Site	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156741353T>C	ENST00000521420.1	+	11	1125	c.1034T>C	c.(1033-1035)gTg>gCg	p.V345A	CYFIP2_ENST00000377576.3_Splice_Site_p.V371A|CYFIP2_ENST00000347377.6_Splice_Site_p.V371A|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Splice_Site_p.V296A|CYFIP2_ENST00000318218.6_Splice_Site_p.V371A|CYFIP2_ENST00000435847.2_Splice_Site_p.V45A|CYFIP2_ENST00000522463.1_Splice_Site_p.V175A					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCCCAGGTGGTGACGGGC	0.532																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e12-1		cytoplasmic FMR1 interacting protein 2							71.0	75.0	74.0					5																	156741353		2035	4197	6232	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156741353T>C	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1033-1T>C	5.37:g.156741353T>C						CYFIP2_ENST00000521420.1_Splice_Site_p.V345_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.V371_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Splice_Site_p.V45_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.V371_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.V296_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.V175_splice	p.V371_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1543	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	371						Splice_Site	SNP	ENST00000521420.1	37	c.1110_splice		.	.	.	.	.	.	.	.	.	.	T	17.78	3.474106	0.63737	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.24350	2.22;2.19;2.18;2.19;2.19;2.19;1.86	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.47716	1.5	0.80722	D	1	B;B;B;D;B;P	0.60575	0.209;0.11;0.326;0.988;0.013;0.518	B;B;B;P;B;P	0.54759	0.222;0.109;0.105;0.76;0.009;0.481	T	0.06127	-1.0844	10	0.07325	T	0.83	-30.6213	16.0209	0.80493	0.0:0.0:0.0:1.0	.	235;175;345;371;371;371	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	A	371;175;345;371;371;296;45	ENSP00000325817:V371A;ENSP00000428009:V175A;ENSP00000430904:V345A;ENSP00000313567:V371A;ENSP00000366799:V371A;ENSP00000444645:V296A;ENSP00000403793:V45A	ENSP00000325817:V371A	V	+	2	0	CYFIP2	156673931	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.948000	0.87774	2.186000	0.69663	0.459000	0.35465	GTG		0.532	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Missense_Mutation	6	71	0	0	0	1	0	6	71				
CDK18	5129	broad.mit.edu	37	1	205498652	205498652	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205498652G>A	ENST00000360066.2	+	13	1483	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	CDK18_ENST00000506784.1_Silent_p.L424L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L394L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L394L(1)|p.L424L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTTGCAGGTTGGATACGGATG	0.697											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			2	Substitution - coding silent(2)	p.L394L(1)|p.L424L(1)	large_intestine(2)	breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(1180-1182)ttG>ttA		cyclin-dependent kinase 18							53.0	50.0	51.0					1																	205498652		2203	4300	6503	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205498652G>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1182G>A	1.37:g.205498652G>A			OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2152	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L424L|CDK18_ENST00000429964.2_Silent_p.L394L	p.L394L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN			13	1483	+			392			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.1182G>A	CCDS44300.1																																																																																				0.697	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		6	86	0	0	0	1	0	6	86				
RING1	6015	broad.mit.edu	37	6	33177832	33177832	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33177832G>A	ENST00000374656.4	+	4	588	c.380G>A	c.(379-381)cGc>cAc	p.R127H	RING1_ENST00000478431.1_3'UTR|MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	127	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GTGCTTATCCGCCTGAGCCGC	0.577																																						ENST00000374656.4																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(379-381)cGc>cAc		ring finger protein 1							61.0	53.0	56.0					6																	33177832		2203	4300	6503	SO:0001583	missense	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33177832G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.380G>A	6.37:g.33177832G>A	ENSP00000363787:p.Arg127His					RING1_ENST00000478431.1_3'UTR	p.R127H	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN			4	588	+			127			Necessary for transcriptional repression (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	ENST00000374656.4	37	c.380G>A	CCDS34424.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.590155	0.66105	.	.	ENSG00000204227	ENST00000374656	D	0.84070	-1.8	4.37	2.57	0.30868	.	0.079635	0.47852	D	0.000202	T	0.77232	0.4100	L	0.54323	1.7	0.36450	D	0.865991	D	0.76494	0.999	P	0.61592	0.891	T	0.74719	-0.3570	10	0.35671	T	0.21	-14.5756	4.2969	0.10906	0.204:0.1918:0.6041:0.0	.	127	Q06587	RING1_HUMAN	H	127	ENSP00000363787:R127H	ENSP00000363787:R127H	R	+	2	0	RING1	33285810	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.030000	0.49720	0.479000	0.27511	0.542000	0.68232	CGC		0.577	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			16	65	0	0	0	1	0	16	65				
SAP30L	79685	broad.mit.edu	37	5	153830731	153830731	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:153830731C>T	ENST00000297109.6	+	2	930	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SAP30L_ENST00000426761.2_Intron|SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000440364.2_Intron	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACAAGTGACGATGGCGGAG	0.423																																						ENST00000297109.6																			0				breast(1)|lung(3)	4						c.(280-282)gaC>gaT		SAP30-like							76.0	75.0	75.0					5																	153830731		2203	4300	6503	SO:0001819	synonymous_variant	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153830731C>T	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.282C>T	5.37:g.153830731C>T						SAP30L_ENST00000440364.2_Intron|SAP30L_ENST00000426761.2_Intron|SAP30L_ENST00000523198.1_3'UTR	p.D94D	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		2	930	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	94					E9PAU7|E9PAY2	Silent	SNP	ENST00000297109.6	37	c.282C>T	CCDS4326.1																																																																																				0.423	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		12	34	0	0	0	1	0	12	34				
CTNS	1497	broad.mit.edu	37	17	3567066	3567066	+	IGR	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:3567066G>A	ENST00000046640.3	+	0	2866				P2RX5-TAX1BP3_ENST00000550383.1_3'UTR|TAX1BP3_ENST00000225525.3_Silent_p.A117A	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter						adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.A117A(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACTGCTGCACGGCCTTCTGCA	0.632																																						ENST00000225525.3																			1	Substitution - coding silent(1)	p.A117A(1)	endometrium(1)	endometrium(1)	1						c.(349-351)gcC>gcT		Tax1 (human T-cell leukemia virus type I) binding protein 3							25.0	26.0	26.0					17																	3567066		2199	4300	6499	SO:0001628	intergenic_variant	30851				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	g.chr17:3567066G>A	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693		17.37:g.3567066G>A						RP11-48B14.2_ENST00000550383.1_3'UTR	p.A117A	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN		COAD - Colon adenocarcinoma(5;0.0761)	4	506	-			117					D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.351C>T	CCDS11031.1																																																																																				0.632	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		11	21	0	0	0	1	0	11	21				
EXOC3L1	283849	broad.mit.edu	37	16	67220750	67220750	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67220750C>A	ENST00000314586.6	-	7	1436	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	399					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCTACCTCCCCATCCAGTGC	0.607																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1195-1197)gGg>gTg		exocyst complex component 3-like 1							56.0	58.0	57.0					16																	67220750		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67220750C>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1196G>T	16.37:g.67220750C>A	ENSP00000325674:p.Gly399Val						p.G399V	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			7	1436	-			399					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1196G>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	C	9.333	1.061130	0.19987	.	.	ENSG00000179044	ENST00000314586	T	0.05996	3.36	5.15	3.07	0.35406	.	0.057838	0.64402	D	0.000002	T	0.04588	0.0125	L	0.41079	1.255	0.58432	D	0.999992	B	0.29378	0.243	B	0.25140	0.058	T	0.43310	-0.9399	10	0.27785	T	0.31	-28.6553	3.3496	0.07147	0.2603:0.5107:0.1411:0.0879	.	399	Q86VI1	EX3L1_HUMAN	V	399	ENSP00000325674:G399V	ENSP00000325674:G399V	G	-	2	0	EXOC3L1	65778251	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	2.203000	0.42752	1.195000	0.43115	-0.483000	0.04790	GGG		0.607	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		11	76	1	0	1.58986e-06	1	1.63365e-06	11	76				
KMT2B	9757	broad.mit.edu	37	19	36229230	36229230	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:36229230C>T	ENST00000222270.7	+	37	7920	c.7920C>T	c.(7918-7920)gaC>gaT	p.D2640D	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000420124.1_Silent_p.D2640D|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2640	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATGTAGTGGACGCCACGATGC	0.582																																						ENST00000420124.1																			0											c.(7918-7920)gaC>gaT									77.0	85.0	82.0					19																	36229230		2196	4297	6493	SO:0001819	synonymous_variant	0							g.chr19:36229230C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7920C>T	19.37:g.36229230C>T						WBP7_ENST00000222270.7_Silent_p.D2640D|KMT2B_ENST00000607650.1_RNA	p.D2640D							37	7920	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.7920C>T	CCDS46055.1																																																																																				0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		11	27	0	0	0	1	0	11	27				
ETHE1	23474	broad.mit.edu	37	19	44015716	44015716	+	Silent	SNP	C	C	T	rs138427304		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44015716C>T	ENST00000292147.2	-	4	444	c.378G>A	c.(376-378)gcG>gcA	p.A126A	ETHE1_ENST00000600651.1_Silent_p.A126A	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	126					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGTCTCCAACGCCTGGCAGG	0.577																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(376-378)gcG>gcA		ethylmalonic encephalopathy 1		C		1,4405	2.1+/-5.4	0,1,2202	51.0	45.0	47.0		378	-2.8	1.0	19	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous	ETHE1	NM_014297.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		126/255	44015716	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44015716C>T		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.378G>A	19.37:g.44015716C>T						ETHE1_ENST00000292147.2_Silent_p.A126A	p.A126A			O95571	ETHE1_HUMAN			4	401	-		Prostate(69;0.0153)	126					Q96HR0|Q9H001	Silent	SNP	ENST00000292147.2	37	c.378G>A	CCDS12622.1																																																																																				0.577	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		13	34	0	0	0	1	0	13	34				
MRPL3	11222	broad.mit.edu	37	3	131208896	131208896	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:131208896C>T	ENST00000264995.3	-	5	644	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	MRPL3_ENST00000425847.2_Missense_Mutation_p.R193Q|MRPL3_ENST00000506946.1_5'UTR	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	166					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(496-498)cGg>cAg		mitochondrial ribosomal protein L3							65.0	64.0	64.0					3																	131208896		2203	4300	6503	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131208896C>T	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.497G>A	3.37:g.131208896C>T	ENSP00000264995:p.Arg166Gln					MRPL3_ENST00000425847.2_Missense_Mutation_p.R193Q|MRPL3_ENST00000506946.1_5'UTR	p.R166Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			5	644	-			166					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.497G>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.167846	0.38315	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669;ENST00000512877	T;T;T;T	0.42513	2.13;2.13;2.13;0.97	5.31	-0.531	0.11894	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.446138	0.24691	N	0.036387	T	0.28732	0.0712	L	0.31845	0.965	0.40319	D	0.978802	B;B	0.17667	0.012;0.023	B;B	0.17979	0.02;0.012	T	0.09796	-1.0658	10	0.23302	T	0.38	-0.0849	12.5056	0.55979	0.0:0.7842:0.0:0.2158	.	193;166	E7ETU7;P09001	.;RM03_HUMAN	Q	166;193;61;133	ENSP00000264995:R166Q;ENSP00000398536:R193Q;ENSP00000422419:R61Q;ENSP00000422035:R133Q	ENSP00000264995:R166Q	R	-	2	0	MRPL3	132691586	0.823000	0.29233	0.987000	0.45799	0.926000	0.56050	-0.104000	0.10923	-0.405000	0.07599	0.462000	0.41574	CGG		0.363	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		9	21	0	0	0	1	0	9	21				
NEB	4703	broad.mit.edu	37	2	152484040	152484040	+	Silent	SNP	G	G	A	rs199870629		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152484040G>A	ENST00000172853.10	-	65	9558	c.9411C>T	c.(9409-9411)agC>agT	p.S3137S	NEB_ENST00000603639.1_Silent_p.S3380S|NEB_ENST00000397345.3_Silent_p.S3380S|NEB_ENST00000409198.1_Silent_p.S3137S|NEB_ENST00000427231.2_Silent_p.S3380S|NEB_ENST00000604864.1_Silent_p.S3380S			P20929	NEBU_HUMAN	nebulin	3137					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTCACATCGCTCTGGAGGT	0.468																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10138-10140)agC>agT		nebulin							161.0	155.0	157.0					2																	152484040		1989	4164	6153	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152484040G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9411C>T	2.37:g.152484040G>A						NEB_ENST00000409198.1_Silent_p.S3137S|NEB_ENST00000172853.10_Silent_p.S3137S|NEB_ENST00000427231.2_Silent_p.S3380S|NEB_ENST00000603639.1_Silent_p.S3380S|NEB_ENST00000604864.1_Silent_p.S3380S	p.S3380S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	69	10342	-			3380					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.10140C>T																																																																																					0.468	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	227	0	0	0	1	0	9	227				
TMEM62	80021	broad.mit.edu	37	15	43443992	43443992	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43443992C>T	ENST00000260403.2	+	8	1150	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	291						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTTTAGGTACCGGATTTTTGC	0.353																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(871-873)Cgg>Tgg		transmembrane protein 62							206.0	187.0	194.0					15																	43443992		2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43443992C>T	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.871C>T	15.37:g.43443992C>T	ENSP00000260403:p.Arg291Trp						p.R291W	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	8	1150	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	291					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.871C>T	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810664	0.70797	.	.	ENSG00000137842	ENST00000260403	T	0.60797	0.16	5.24	4.26	0.50523	.	0.047415	0.85682	D	0.000000	T	0.80226	0.4584	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84664	0.0708	10	0.72032	D	0.01	-11.3341	14.9595	0.71144	0.2407:0.7593:0.0:0.0	.	291	Q0P6H9	TMM62_HUMAN	W	291	ENSP00000260403:R291W	ENSP00000260403:R291W	R	+	1	2	TMEM62	41231284	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	2.881000	0.48538	2.600000	0.87896	0.555000	0.69702	CGG		0.353	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		9	107	0	0	0	1	0	9	107				
SLC25A53	401612	broad.mit.edu	37	X	103349173	103349173	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:103349173C>A	ENST00000357421.4	-	2	948	c.768G>T	c.(766-768)caG>caT	p.Q256H		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	256					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TCCATACATCCTGGGCAGAGG	0.542																																						ENST00000357421.4																			0											c.(766-768)caG>caT		solute carrier family 25, member 53							55.0	46.0	49.0					X																	103349173		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349173C>A		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.768G>T	X.37:g.103349173C>A	ENSP00000361681:p.Gln256His						p.Q256H	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	948	-			256					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.768G>T	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	0.959	-0.704018	0.03255	.	.	ENSG00000176274	ENST00000357421	T	0.79141	-1.24	4.03	0.179	0.15063	Mitochondrial carrier domain (2);	0.311265	0.26163	N	0.025972	T	0.62684	0.2448	L	0.38175	1.15	0.09310	N	1	B	0.18166	0.026	B	0.13407	0.009	T	0.47774	-0.9091	10	0.32370	T	0.25	-29.3455	7.3691	0.26792	0.0:0.5704:0.0:0.4296	.	256	Q5H9E4	MCAR6_HUMAN	H	256	ENSP00000361681:Q256H	ENSP00000361681:Q256H	Q	-	3	2	MCART6	103235829	0.006000	0.16342	0.003000	0.11579	0.009000	0.06853	1.162000	0.31786	-0.229000	0.09854	-0.896000	0.02909	CAG		0.542	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		21	20	1	0	8.10497e-08	1	8.35994e-08	21	20				
TBC1D4	9882	broad.mit.edu	37	13	75915275	75915275	+	Missense_Mutation	SNP	C	C	T	rs377319895		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:75915275C>T	ENST00000377636.3	-	7	1943	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G533R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	533					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGGCCTTCCCCGATGTGCACG	0.413																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1597-1599)Ggg>Agg		TBC1 domain family, member 4		C	ARG/GLY	0,3990		0,0,1995	130.0	126.0	127.0		1597	5.1	0.9	13		127	1,8345		0,1,4172	no	missense	TBC1D4	NM_014832.2	125	0,1,6167	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	533/1299	75915275	1,12335	1995	4173	6168	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75915275C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1597G>A	13.37:g.75915275C>T	ENSP00000366863:p.Gly533Arg					TBC1D4_ENST00000431480.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000425511.1_5'UTR	p.G533R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	7	1943	-		Prostate(6;0.014)|Breast(118;0.0982)	533					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1597G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261154	0.59431	0.0	1.2E-4	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.30714	3.65;3.63;3.68;1.52	5.07	5.07	0.68467	.	0.241541	0.27861	N	0.017555	T	0.56187	0.1968	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.999	P;D;P	0.68483	0.763;0.958;0.88	T	0.59878	-0.7371	10	0.72032	D	0.01	-10.2036	18.8012	0.92018	0.0:1.0:0.0:0.0	.	533;533;533	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	R	533;533;533;45	ENSP00000366863:G533R;ENSP00000395986:G533R;ENSP00000366852:G533R;ENSP00000396932:G45R	ENSP00000366852:G533R	G	-	1	0	TBC1D4	74813276	1.000000	0.71417	0.929000	0.37066	0.063000	0.16089	7.129000	0.77225	2.525000	0.85131	0.650000	0.86243	GGG		0.413	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		16	38	0	0	0	1	0	16	38				
ACLY	47	broad.mit.edu	37	17	40034431	40034431	+	Silent	SNP	G	G	A	rs35022178	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40034431G>A	ENST00000352035.2	-	22	2542	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACLY_ENST00000590151.1_Silent_p.L804L|ACLY_ENST00000353196.1_Silent_p.L794L|ACLY_ENST00000537919.1_Silent_p.L533L|ACLY_ENST00000393896.2_Silent_p.L794L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	804					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATTGGCCACGAGATCTTCGT	0.502													G|||	10	0.00199681	0.0076	0.0	5008	,	,		17309	0.0		0.0	False		,,,				2504	0.0				Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2410-2412)ctC>ctT		ATP citrate lyase		G	,	30,4376	36.0+/-67.5	0,30,2173	38.0	32.0	34.0		2412,2382	-6.9	0.8	17	dbSNP_126	34	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACLY	NM_001096.2,NM_198830.1	,	0,30,6473	AA,AG,GG		0.0,0.6809,0.2307	,	804/1102,794/1092	40034431	30,12976	2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40034431G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2412C>T	17.37:g.40034431G>A						ACLY_ENST00000590151.1_Silent_p.L804L|ACLY_ENST00000393896.2_Silent_p.L794L|ACLY_ENST00000537919.1_Silent_p.L533L|ACLY_ENST00000353196.1_Silent_p.L794L	p.L804L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			22	2542	-		Breast(137;0.000143)	804					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2412C>T	CCDS11412.1																																																																																				0.502	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		9	36	0	0	0	1	0	9	36				
FGF9	2254	broad.mit.edu	37	13	22255282	22255282	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22255282T>A	ENST00000382353.5	+	2	909	c.379T>A	c.(379-381)Tca>Aca	p.S127T	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	127					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GCTGTATGGATCAGTAAGTAC	0.468																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(379-381)Tca>Aca		fibroblast growth factor 9							121.0	110.0	114.0					13																	22255282		2203	4300	6503	SO:0001583	missense	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22255282T>A	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.379T>A	13.37:g.22255282T>A	ENSP00000371790:p.Ser127Thr					FGF9_ENST00000478546.1_3'UTR	p.S127T	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	2	909	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	127					A8K427|Q3SY32	Missense_Mutation	SNP	ENST00000382353.5	37	c.379T>A	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528259	0.64860	.	.	ENSG00000102678	ENST00000382353	D	0.82344	-1.6	5.62	5.62	0.85841	.	0.212247	0.32703	N	0.005758	D	0.89712	0.6794	M	0.64404	1.975	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	D	0.90259	0.4299	10	0.59425	D	0.04	.	15.7922	0.78372	0.0:0.0:0.0:1.0	.	127	P31371	FGF9_HUMAN	T	127	ENSP00000371790:S127T	ENSP00000371790:S127T	S	+	1	0	FGF9	21153282	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	7.599000	0.82757	2.263000	0.75096	0.533000	0.62120	TCA		0.468	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			12	39	0	0	0	1	0	12	39				
OR2D2	120776	broad.mit.edu	37	11	6913367	6913367	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6913367C>T	ENST00000299459.2	-	1	463	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAACATAGCGATCATAGGA	0.488																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(364-366)cGc>cAc		olfactory receptor, family 2, subfamily D, member 2							135.0	106.0	116.0					11																	6913367		2201	4296	6497	SO:0001583	missense	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913367C>T	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.365G>A	11.37:g.6913367C>T	ENSP00000299459:p.Arg122His						p.R122H	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	463	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	122					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	c.365G>A	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	c	19.54	3.847583	0.71603	.	.	ENSG00000166368	ENST00000299459	T	0.77489	-1.1	5.23	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000478	D	0.88377	0.6420	M	0.84511	2.7	0.38442	D	0.946737	D	0.89917	1.0	D	0.91635	0.999	D	0.91207	0.4996	10	0.87932	D	0	-11.7507	13.3397	0.60538	0.1589:0.8411:0.0:0.0	.	122	Q9H210	OR2D2_HUMAN	H	122	ENSP00000299459:R122H	ENSP00000299459:R122H	R	-	2	0	OR2D2	6869943	1.000000	0.71417	0.689000	0.30133	0.984000	0.73092	4.635000	0.61332	1.573000	0.49748	0.645000	0.84053	CGC		0.488	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		30	74	0	0	0	1	0	30	74				
VIPR1	7433	broad.mit.edu	37	3	42572369	42572369	+	Silent	SNP	C	C	T	rs142317327		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:42572369C>T	ENST00000325123.4	+	7	848	c.735C>T	c.(733-735)gcC>gcT	p.A245A	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000433647.1_Silent_p.A204A|VIPR1_ENST00000543411.1_Silent_p.A197A|VIPR1_ENST00000438259.2_Missense_Mutation_p.P42L|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	245					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTGCTTGCCGTCTCCTTCT	0.562																																						ENST00000438259.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(124-126)cCg>cTg		vasoactive intestinal peptide receptor 1				1,4405	2.1+/-5.4	0,1,2202	139.0	123.0	128.0		735	1.5	0.8	3	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	VIPR1	NM_004624.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/458	42572369	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42572369C>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.735C>T	3.37:g.42572369C>T						VIPR1-AS1_ENST00000598837.1_RNA|VIPR1_ENST00000433647.1_Silent_p.A204A|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000325123.4_Silent_p.A245A|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.A197A	p.P42L	NM_001251883.1	NP_001238812.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	4	511	+			0					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	c.125C>T	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948527	0.73787	2.27E-4	0.0	ENSG00000114812	ENST00000438259;ENST00000439731	T;T	0.56611	1.51;0.45	5.31	1.47	0.22746	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.31686	N	0.642469	B	0.11235	0.004	B	0.04013	0.001	T	0.34453	-0.9828	8	0.56958	D	0.05	.	3.1505	0.06486	0.123:0.5541:0.1192:0.2038	.	42	B4DEB5	.	L	42;201	ENSP00000415371:P42L;ENSP00000403478:P201L	ENSP00000415371:P42L	P	+	2	0	VIPR1	42547373	0.729000	0.28090	0.805000	0.32314	0.962000	0.63368	0.007000	0.13174	-0.015000	0.14150	0.557000	0.71058	CCG		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		9	105	0	0	0	1	0	9	105				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	33	1	0	0.115264	1	0.115799	3	33				
KIAA1551	55196	broad.mit.edu	37	12	32135664	32135664	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32135664G>A	ENST00000312561.4	+	4	2189	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	592																	TCACAGGCACGTAAGACTCAG	0.353																																						ENST00000312561.4																			0											c.(1774-1776)cGt>cAt		KIAA1551							36.0	37.0	37.0					12																	32135664		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135664G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1775G>A	12.37:g.32135664G>A	ENSP00000310338:p.Arg592His					KIAA1551_ENST00000535596.1_Intron	p.R592H	NM_018169.3	NP_060639.3					4	2189	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1775G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998876	0.19121	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05925	4.01;3.37	4.46	-3.92	0.04155	.	2.166970	0.02353	N	0.076177	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	.	.	.	.	5.8189	0.18516	0.4641:0.0:0.4044:0.1315	.	592	Q9HCM1	CL035_HUMAN	H	592	ENSP00000310338:R592H;ENSP00000370442:R592H	.	R	+	2	0	C12orf35	32026931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.304000	0.19228	-0.518000	0.06452	-1.264000	0.01445	CGT		0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		11	34	0	0	0	1	0	11	34				
MTMR12	54545	broad.mit.edu	37	5	32263257	32263257	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32263257T>G	ENST00000382142.3	-	7	845	c.675A>C	c.(673-675)aaA>aaC	p.K225N	MTMR12_ENST00000280285.5_Missense_Mutation_p.K225N|MTMR12_ENST00000264934.5_Missense_Mutation_p.K225N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	225	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACTCACTGCTTTGTACTTCA	0.433																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(673-675)aaA>aaC		myotubularin related protein 12							379.0	306.0	331.0					5																	32263257		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32263257T>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.675A>C	5.37:g.32263257T>G	ENSP00000371577:p.Lys225Asn					MTMR12_ENST00000264934.5_Missense_Mutation_p.K225N|MTMR12_ENST00000280285.5_Missense_Mutation_p.K225N	p.K225N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			7	845	-			225			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.675A>C	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559231	0.65538	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.93604	-3.25;-3.25;-3.25	5.55	-2.71	0.05986	Myotubularin phosphatase domain (1);	0.114376	0.64402	D	0.000020	D	0.93684	0.7982	M	0.62723	1.935	0.32537	N	0.534149	D;P;P	0.67145	0.996;0.928;0.883	P;P;B	0.59948	0.866;0.526;0.327	D	0.92725	0.6195	10	0.72032	D	0.01	.	11.1733	0.48584	0.0:0.3794:0.0:0.6206	.	225;225;225	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	N	225	ENSP00000280285:K225N;ENSP00000371577:K225N;ENSP00000264934:K225N	ENSP00000264934:K225N	K	-	3	2	MTMR12	32299014	0.999000	0.42202	0.820000	0.32676	0.997000	0.91878	0.255000	0.18333	-0.744000	0.04778	0.528000	0.53228	AAA		0.433	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		32	79	0	0	0	1	0	32	79				
CFB	629	broad.mit.edu	37	6	31915745	31915745	+	Missense_Mutation	SNP	G	G	A	rs200645483		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31915745G>A	ENST00000425368.2	+	6	1297	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	CFB_ENST00000556679.1_Missense_Mutation_p.V764I|CFB_ENST00000456570.1_Missense_Mutation_p.V764I|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.V613I	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	262					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCGGAAGATCGTCCTGGACCC	0.542																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2290-2292)Gtc>Atc		complement factor B							118.0	126.0	123.0					6																	31915745		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31915745G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.784G>A	6.37:g.31915745G>A	ENSP00000416561:p.Val262Ile					CFB_ENST00000477310.1_Missense_Mutation_p.V613I|CFB_ENST00000425368.2_Missense_Mutation_p.V262I|CFB_ENST00000556679.1_Missense_Mutation_p.V764I|CFB_ENST00000497841.1_3'UTR	p.V764I			P00751	CFAB_HUMAN			18	2345	+			262	L -> H (in Ref. 13; AAA36220).				B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2290G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	5.471	0.271869	0.10349	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.03	-1.06	0.10002	.	0.620341	0.14273	N	0.330029	T	0.40372	0.1114	N	0.22421	0.69	0.18873	N	0.999988	B;B;B	0.25441	0.126;0.0;0.009	B;B;B	0.11329	0.006;0.0;0.002	T	0.17501	-1.0367	10	0.34782	T	0.22	-11.6521	11.4509	0.50151	0.4221:0.0:0.5779:0.0	.	764;262;262	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	I	764;262;764;613	ENSP00000451848:V764I;ENSP00000416561:V262I;ENSP00000410815:V764I;ENSP00000418996:V613I	ENSP00000416561:V262I	V	+	1	0	CFB;XXbac-BPG116M5.17	32023724	0.000000	0.05858	0.301000	0.25044	0.032000	0.12392	-0.701000	0.05075	-0.762000	0.04664	-1.134000	0.01955	GTC		0.542	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		30	71	0	0	0	1	0	30	71				
OFD1	8481	broad.mit.edu	37	X	13778282	13778282	+	Missense_Mutation	SNP	G	G	A	rs376012267		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:13778282G>A	ENST00000340096.6	+	16	2030	c.1703G>A	c.(1702-1704)cGt>cAt	p.R568H	OFD1_ENST00000380550.3_Missense_Mutation_p.R528H|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Missense_Mutation_p.R428H	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	568					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGATCGATCGTTCTGTCAAT	0.418																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1282-1284)cGt>cAt		oral-facial-digital syndrome 1		G	HIS/ARG	0,3835		0,0,1632,571	151.0	134.0	140.0		1703	-0.3	0.0	X		140	1,6727		0,1,2427,1872	no	missense	OFD1	NM_003611.2	29	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign	568/1013	13778282	1,10562	2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778282G>A	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1703G>A	X.37:g.13778282G>A	ENSP00000344314:p.Arg568His					OFD1_ENST00000380550.3_Missense_Mutation_p.R528H|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.R568H	p.R428H			O75665	OFD1_HUMAN			17	2155	+			568					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1283G>A	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.141890	0.37825	0.0	1.49E-4	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96459	-4.02;-3.98;-1.85	5.67	-0.29	0.12847	.	0.474150	0.21925	N	0.067110	D	0.89248	0.6661	N	0.11845	0.185	0.09310	N	1	B;B;B;B;B	0.21309	0.023;0.054;0.054;0.054;0.054	B;B;B;B;B	0.14023	0.007;0.01;0.01;0.01;0.007	T	0.78633	-0.2128	10	0.33141	T	0.24	0.5295	11.1856	0.48655	0.4514:0.0:0.5486:0.0	.	568;528;236;428;568	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	H	528;568;428	ENSP00000369923:R528H;ENSP00000344314:R568H;ENSP00000369941:R428H	ENSP00000344314:R568H	R	+	2	0	OFD1	13688203	0.009000	0.17119	0.000000	0.03702	0.617000	0.37484	0.183000	0.16919	-0.241000	0.09681	0.529000	0.55759	CGT		0.418	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		41	35	0	0	0	1	0	41	35				
FAM186B	84070	broad.mit.edu	37	12	49998227	49998227	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49998227G>A	ENST00000257894.2	-	2	352	c.191C>T	c.(190-192)gCc>gTc	p.A64V	FAM186B_ENST00000551047.1_Missense_Mutation_p.A64V|FAM186B_ENST00000544141.1_5'UTR|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	64						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGAGATTTGGCATTTTCTTT	0.403																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(190-192)gCc>gTc		family with sequence similarity 186, member B							115.0	111.0	112.0					12																	49998227		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49998227G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.191C>T	12.37:g.49998227G>A	ENSP00000257894:p.Ala64Val					FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.A64V|PRPF40B_ENST00000508736.1_3'UTR	p.A64V	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN			2	352	-			64					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.191C>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221508	0.09863	.	.	ENSG00000135436	ENST00000551047;ENST00000257894	T;T	0.45668	0.89;2.9	5.47	2.17	0.27698	.	0.371804	0.19685	N	0.108417	T	0.24851	0.0603	L	0.31294	0.92	0.09310	N	0.999994	B	0.17852	0.024	B	0.16722	0.016	T	0.11542	-1.0583	9	.	.	.	-1.5128	4.4097	0.11427	0.1845:0.0:0.6044:0.211	.	64	Q8IYM0	F186B_HUMAN	V	64	ENSP00000448656:A64V;ENSP00000257894:A64V	.	A	-	2	0	FAM186B	48284494	0.001000	0.12720	0.086000	0.20670	0.371000	0.29859	0.216000	0.17585	0.783000	0.33636	0.563000	0.77884	GCC		0.403	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		8	71	0	0	0	1	0	8	71				
TPD52L3	89882	broad.mit.edu	37	9	6328900	6328900	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:6328900G>A	ENST00000344545.5	+	1	552	c.305G>A	c.(304-306)gGc>gAc	p.G102D	TPD52L3_ENST00000314556.3_Missense_Mutation_p.G102D|TPD52L3_ENST00000381428.1_Missense_Mutation_p.G102D	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	102										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCCACCATGGGCACTCTCATC	0.512																																						ENST00000344545.5																			0				large_intestine(1)|lung(9)|skin(1)	11						c.(304-306)gGc>gAc		tumor protein D52-like 3							94.0	85.0	88.0					9																	6328900		2203	4300	6503	SO:0001583	missense	89882						protein binding	g.chr9:6328900G>A	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.305G>A	9.37:g.6328900G>A	ENSP00000341677:p.Gly102Asp					TPD52L3_ENST00000381428.1_Missense_Mutation_p.G102D|TPD52L3_ENST00000314556.3_Missense_Mutation_p.G102D	p.G102D	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	552	+		Acute lymphoblastic leukemia(23;0.158)	102					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	ENST00000344545.5	37	c.305G>A	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588787	0.46110	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.30448	1.53;1.53;1.53	4.34	4.34	0.51931	.	0.385935	0.25827	N	0.028058	T	0.60025	0.2237	M	0.88979	2.995	0.45261	D	0.998262	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.67440	-0.5670	10	0.87932	D	0	-1.1939	12.5606	0.56279	0.0:0.0:1.0:0.0	.	102;102;102	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	D	102	ENSP00000341677:G102D;ENSP00000370836:G102D;ENSP00000318665:G102D	ENSP00000318665:G102D	G	+	2	0	TPD52L3	6318900	1.000000	0.71417	0.990000	0.47175	0.028000	0.11728	2.505000	0.45424	2.436000	0.82500	0.511000	0.50034	GGC		0.512	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		20	107	0	0	0	1	0	20	107				
MATN2	4147	broad.mit.edu	37	8	98943456	98943456	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:98943456A>G	ENST00000520016.1	+	2	542	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	MATN2_ENST00000524308.1_Missense_Mutation_p.I140V|MATN2_ENST00000254898.5_Missense_Mutation_p.I140V|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.I140V			O00339	MATN2_HUMAN	matrilin 2	140	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGCTGGCCATCCAGTATGC	0.582																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(418-420)Atc>Gtc		matrilin 2							42.0	47.0	45.0					8																	98943456		2097	4251	6348	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943456A>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.418A>G	8.37:g.98943456A>G	ENSP00000430487:p.Ile140Val					MATN2_ENST00000520016.1_Missense_Mutation_p.I140V|MATN2_ENST00000521689.1_Missense_Mutation_p.I140V|MATN2_ENST00000524308.1_Missense_Mutation_p.I140V|MATN2_ENST00000522025.2_Intron	p.I140V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	649	+	Breast(36;1.43e-06)		140			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.418A>G	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920580	0.73213	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.97	3.49	0.39957	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	D	0.90167	0.6927	M	0.93462	3.42	0.39250	D	0.964019	P;P;P;P	0.48911	0.882;0.857;0.793;0.917	P;P;P;P	0.57057	0.812;0.714;0.553;0.684	D	0.91814	0.5462	10	0.66056	D	0.02	-16.659	13.5544	0.61751	0.6333:0.3667:0.0:0.0	.	140;140;140;140	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	V	140	ENSP00000429977:I140V;ENSP00000254898:I140V;ENSP00000430221:I140V;ENSP00000430487:I140V	ENSP00000254898:I140V	I	+	1	0	MATN2	99012632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.508000	0.45450	0.455000	0.26910	0.533000	0.62120	ATC		0.582	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			21	30	0	0	0	1	0	21	30				
ACSL6	23305	broad.mit.edu	37	5	131325195	131325195	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:131325195C>T	ENST00000379240.1	-	5	535	c.382G>A	c.(382-384)Gac>Aac	p.D128N	ACSL6_ENST00000379249.3_Missense_Mutation_p.D128N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D139N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D93N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D93N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D128N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D37N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D128N|ACSL6_ENST00000379264.2_Missense_Mutation_p.D153N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D128N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D153N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D93N			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	128					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCCCTGTCGGCCACCTGC	0.458																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(457-459)Gac>Aac		acyl-CoA synthetase long-chain family member 6							73.0	77.0	76.0					5																	131325195		2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131325195C>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.382G>A	5.37:g.131325195C>T	ENSP00000368542:p.Asp128Asn					ACSL6_ENST00000379246.1_Missense_Mutation_p.D139N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D93N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D128N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D37N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D128N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D128N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D93N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D93N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D128N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D128N|ACSL6_ENST00000296869.4_Missense_Mutation_p.D153N	p.D153N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	565	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	128					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.457G>A		.	.	.	.	.	.	.	.	.	.	C	11.58	1.682208	0.29872	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;2.79;2.79;2.79;2.79	5.39	2.46	0.29980	AMP-dependent synthetase/ligase (1);	0.362582	0.34002	N	0.004343	T	0.38585	0.1046	M	0.69358	2.11	0.30244	N	0.794763	B;B;B;B;B;B;B	0.21225	0.016;0.053;0.019;0.02;0.015;0.015;0.015	B;B;B;B;B;B;B	0.25884	0.038;0.018;0.032;0.064;0.023;0.018;0.018	T	0.36866	-0.9730	10	0.40728	T	0.16	.	7.8384	0.29384	0.0:0.7047:0.0:0.2953	.	128;128;118;128;93;153;153	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	N	128;153;128;93;93;153;139;128;37;128;93;128;93;128;128;128;128;93	ENSP00000368551:D128N;ENSP00000368566:D153N;ENSP00000368574:D128N;ENSP00000349608:D93N;ENSP00000368557:D93N;ENSP00000296869:D153N;ENSP00000368548:D139N;ENSP00000368546:D128N;ENSP00000445154:D37N;ENSP00000368542:D128N;ENSP00000413329:D93N;ENSP00000442124:D128N;ENSP00000397507:D93N;ENSP00000398423:D128N;ENSP00000388424:D128N;ENSP00000398381:D128N;ENSP00000394810:D128N;ENSP00000389189:D93N	ENSP00000296869:D153N	D	-	1	0	ACSL6	131353094	0.074000	0.21230	0.705000	0.30386	0.054000	0.15201	0.587000	0.23909	0.561000	0.29186	0.462000	0.41574	GAC		0.458	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		6	100	0	0	0	1	0	6	100				
HOXD10	3236	broad.mit.edu	37	2	176983939	176983939	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:176983939G>A	ENST00000249501.4	+	2	1258	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	HOXD-AS2_ENST00000440016.2_RNA|HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	335					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGAACTGACCGCCAACCTCAC	0.577																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(1003-1005)Gcc>Acc		homeobox D10							34.0	36.0	35.0					2																	176983939		2203	4299	6502	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176983939G>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.1003G>A	2.37:g.176983939G>A	ENSP00000249501:p.Ala335Thr					HOXD10_ENST00000490088.2_3'UTR	p.A335T	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	2	1258	+			335					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.1003G>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184634	0.57909	.	.	ENSG00000128710	ENST00000249501	D	0.94576	-3.46	5.94	5.94	0.96194	.	0.053033	0.85682	D	0.000000	D	0.89104	0.6620	N	0.20807	0.61	0.52501	D	0.999953	P	0.35908	0.527	B	0.26517	0.07	D	0.87563	0.2473	10	0.36615	T	0.2	.	19.9695	0.97278	0.0:0.0:1.0:0.0	.	335	P28358	HXD10_HUMAN	T	335	ENSP00000249501:A335T	ENSP00000249501:A335T	A	+	1	0	HOXD10	176692185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.348000	0.79366	2.816000	0.96949	0.561000	0.74099	GCC		0.577	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			17	44	0	0	0	1	0	17	44				
FLNA	2316	broad.mit.edu	37	X	153587696	153587696	+	Silent	SNP	G	G	A	rs372110377		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153587696G>A	ENST00000369850.3	-	25	4457	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_ENST00000360319.4_Silent_p.D1407D|FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Silent_p.D1407D|FLNA_ENST00000344736.4_Silent_p.D1407D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1407					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(4219-4221)gaC>gaT		filamin A, alpha							60.0	68.0	66.0					X																	153587696		2087	4194	6281	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587696G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4221C>T	X.37:g.153587696G>A						FLNA_ENST00000344736.4_Silent_p.D1407D|FLNA_ENST00000369850.3_Silent_p.D1407D|FLNA_ENST00000360319.4_Silent_p.D1407D	p.D1407D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			25	4469	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1407					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4221C>T	CCDS48194.1																																																																																				0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			5	107	0	0	0	1	0	5	107				
WDR66	144406	broad.mit.edu	37	12	122359385	122359385	+	Silent	SNP	C	C	T	rs370060195		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122359385C>T	ENST00000288912.4	+	2	1028	c.174C>T	c.(172-174)ggC>ggT	p.G58G	WDR66_ENST00000397454.2_Silent_p.G58G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(172-174)ggC>ggT		WD repeat domain 66		T	,	0,3830		0,0,1915	44.0	45.0	45.0		174,174	-1.5	0.0	12		45	1,8231		0,1,4115	no	coding-synonymous,coding-synonymous	WDR66	NM_001178003.1,NM_144668.5	,	0,1,6030	TT,TC,CC		0.0121,0.0,0.0083	,	58/942,58/1150	122359385	1,12061	1915	4116	6031	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122359385C>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.174C>T	12.37:g.122359385C>T						WDR66_ENST00000397454.2_Silent_p.G58G	p.G58G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	2	1028	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		58			Glu-rich.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.174C>T	CCDS41853.1																																																																																				0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		10	21	0	0	0	1	0	10	21				
GGNBP2	79893	broad.mit.edu	37	17	34945826	34945826	+	Silent	SNP	G	G	A	rs370737250		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34945826G>A	ENST00000304718.4	+	14	2395	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	DHRS11_ENST00000251312.5_5'Flank|DHRS11_ENST00000590554.1_5'Flank	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	693					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTTGACAACGGCTGGAGCAA	0.383																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(2077-2079)acG>acA		gametogenetin binding protein 2		G		0,4406		0,0,2203	65.0	73.0	70.0		2079	0.6	1.0	17		70	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GGNBP2	NM_024835.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		693/698	34945826	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34945826G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.2079G>A	17.37:g.34945826G>A							p.T693T	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	14	2395	+		Breast(25;0.00957)|Ovarian(249;0.17)	693					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.2079G>A	CCDS11314.1																																																																																				0.383	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		32	74	0	0	0	1	0	32	74				
FAM214A	56204	broad.mit.edu	37	15	52903829	52903829	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52903829G>A	ENST00000261844.7	-	4	499	c.347C>T	c.(346-348)gCg>gTg	p.A116V	FAM214A_ENST00000546305.2_Missense_Mutation_p.A123V	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	116																	TTGCTTAATCGCAGGATCATT	0.413																																						ENST00000261844.7																			0											c.(346-348)gCg>gTg		family with sequence similarity 214, member A							109.0	107.0	107.0					15																	52903829		1930	4138	6068	SO:0001583	missense	56204							g.chr15:52903829G>A	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.347C>T	15.37:g.52903829G>A	ENSP00000261844:p.Ala116Val					FAM214A_ENST00000546305.2_Missense_Mutation_p.A123V	p.A116V	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			4	499	-			116					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.347C>T	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282924	0.80692	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.33438	1.41;1.41	6.16	5.25	0.73442	.	0.095093	0.64402	D	0.000001	T	0.39384	0.1076	N	0.16478	0.41	0.41971	D	0.990754	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.31971	-0.9924	10	0.34782	T	0.22	-6.2588	15.319	0.74105	0.0662:0.0:0.9338:0.0	.	123;116	F5H8G0;Q32MH5	.;K1370_HUMAN	V	116;116;115;123	ENSP00000261844:A116V;ENSP00000443598:A123V	ENSP00000261844:A116V	A	-	2	0	KIAA1370	50691121	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	5.107000	0.64603	1.626000	0.50381	0.650000	0.86243	GCG		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		28	68	0	0	0	1	0	28	68				
PELI2	57161	broad.mit.edu	37	14	56763645	56763645	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:56763645G>T	ENST00000267460.4	+	6	1310	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	342					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CAGGACTGTGGGCCCCTATGT	0.592																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(1024-1026)Ggc>Tgc		pellino E3 ubiquitin protein ligase family member 2							110.0	88.0	95.0					14																	56763645		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763645G>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1024G>T	14.37:g.56763645G>T	ENSP00000267460:p.Gly342Cys						p.G342C	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			6	1310	+			342					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.1024G>T	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920121	0.92249	.	.	ENSG00000139946	ENST00000267460	T	0.55588	0.51	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81337	-0.0978	10	0.87932	D	0	-33.4858	19.7628	0.96329	0.0:0.0:1.0:0.0	.	342	Q9HAT8	PELI2_HUMAN	C	342	ENSP00000267460:G342C	ENSP00000267460:G342C	G	+	1	0	PELI2	55833398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.855000	0.99526	2.672000	0.90937	0.555000	0.69702	GGC		0.592	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			42	87	1	0	4.14481e-20	1	4.34562e-20	42	87				
CTR9	9646	broad.mit.edu	37	11	10786119	10786119	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10786119C>T	ENST00000361367.2	+	12	1864	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	480					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCATTGGACCGTGCAAAAGC	0.373																																						ENST00000361367.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1438-1440)Cgt>Tgt		CTR9, Paf1/RNA polymerase II complex component							77.0	70.0	72.0					11																	10786119		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10786119C>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1438C>T	11.37:g.10786119C>T	ENSP00000355013:p.Arg480Cys						p.R480C	NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	12	1864	+			480					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1438C>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151961	0.57151	.	.	ENSG00000198730	ENST00000361367	T	0.18174	2.23	5.88	4.97	0.65823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.63703	0.917	T	0.09271	-1.0682	10	0.54805	T	0.06	-12.9489	15.2103	0.73219	0.0:0.9324:0.0:0.0676	.	480	Q6PD62	CTR9_HUMAN	C	480	ENSP00000355013:R480C	ENSP00000355013:R480C	R	+	1	0	CTR9	10742695	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.938000	0.48987	1.488000	0.48433	0.655000	0.94253	CGT		0.373	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		7	30	0	0	0	1	0	7	30				
OCRL	4952	broad.mit.edu	37	X	128723862	128723862	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:128723862G>A	ENST00000371113.4	+	23	2675	c.2510G>A	c.(2509-2511)cGt>cAt	p.R837H	OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	837	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATGTTTTCCGTTACTTGATG	0.433																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2509-2511)cGt>cAt		oculocerebrorenal syndrome of Lowe							128.0	113.0	118.0					X																	128723862		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128723862G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2510G>A	X.37:g.128723862G>A	ENSP00000360154:p.Arg837His					OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	p.R837H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			23	2675	+			837			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.2510G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258394	0.39896	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.21191	2.02;2.02	5.65	4.76	0.60689	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.055023	0.85682	N	0.000000	T	0.32704	0.0838	L	0.39020	1.185	0.80722	D	1	D;P	0.89917	1.0;0.657	D;B	0.69824	0.966;0.233	T	0.02126	-1.1209	10	0.28530	T	0.3	.	12.0083	0.53272	0.0883:0.0:0.9117:0.0	.	829;837	Q01968-2;Q01968	.;OCRL_HUMAN	H	837;829	ENSP00000360154:R837H;ENSP00000349635:R829H	ENSP00000349635:R829H	R	+	2	0	OCRL	128551543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.606000	0.67641	1.084000	0.41184	0.600000	0.82982	CGT		0.433	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		26	30	0	0	0	1	0	26	30				
HLX	3142	broad.mit.edu	37	1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:221057685G>A	ENST00000366903.6	+	4	2607	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HLX_ENST00000549319.1_Missense_Mutation_p.R155H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	369	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1105-1107)cGt>cAt		H2.0-like homeobox							40.0	40.0	40.0					1																	221057685		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057685G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1106G>A	1.37:g.221057685G>A	ENSP00000355870:p.Arg369His					HLX_ENST00000549319.1_Missense_Mutation_p.R155H	p.R369H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2607	+			369			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1106G>A	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632590	0.87660	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	T;T;T	0.54279	1.3;0.58;3.28	4.97	4.05	0.47172	.	0.112915	0.35970	N	0.002879	T	0.29355	0.0731	L	0.32530	0.975	0.35712	D	0.816493	P	0.47910	0.902	B	0.31101	0.124	T	0.34750	-0.9816	10	0.13108	T	0.6	-25.9056	8.3496	0.32295	0.0856:0.1565:0.7578:0.0	.	369	Q14774	HLX_HUMAN	H	369;102;155	ENSP00000355870:R369H;ENSP00000408248:R102H;ENSP00000449882:R155H	ENSP00000355870:R369H	R	+	2	0	HLX	219124308	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.548000	0.53670	1.230000	0.43646	0.561000	0.74099	CGT		0.667	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		14	33	0	0	0	1	0	14	33				
AMPD3	272	broad.mit.edu	37	11	10503688	10503688	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503688G>A	ENST00000396554.3	+	4	873	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	AMPD3_ENST00000444303.2_Missense_Mutation_p.A10T	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	169					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCGGCTCGCCTACCACCG	0.617																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(28-30)Gcc>Acc		adenosine monophosphate deaminase 3							96.0	101.0	100.0					11																	10503688		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10503688G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.532G>A	11.37:g.10503688G>A	ENSP00000379802:p.Ala178Thr					AMPD3_ENST00000396554.3_Missense_Mutation_p.A178T	p.A10T	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	3	500	+			169					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.28G>A	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761455	0.89932	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.83012	2.62	0.58432	D	0.999999	D;P;D	0.67145	0.996;0.92;0.996	P;B;P	0.57057	0.812;0.425;0.812	T	0.71833	-0.4473	10	0.59425	D	0.04	-18.7518	20.2422	0.98381	0.0:0.0:1.0:0.0	.	176;169;178	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	T	10;178;169;169;176;169	ENSP00000396000:A10T;ENSP00000379802:A178T;ENSP00000433284:A169T;ENSP00000379801:A169T;ENSP00000436987:A176T;ENSP00000431648:A169T	ENSP00000379801:A169T	A	+	1	0	AMPD3	10460264	1.000000	0.71417	0.968000	0.41197	0.300000	0.27592	6.488000	0.73637	2.782000	0.95742	0.655000	0.94253	GCC		0.617	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		46	121	0	0	0	1	0	46	121				
STXBP3	6814	broad.mit.edu	37	1	109336253	109336253	+	Missense_Mutation	SNP	G	G	A	rs147446724		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109336253G>A	ENST00000370008.3	+	12	1063	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	338					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCCCATTTCCGAAAACAGATT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		17240	0.0		0.001	False		,,,				2504	0.0					ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1012-1014)cGa>cAa		syntaxin binding protein 3		G	GLN/ARG	0,4406		0,0,2203	112.0	112.0	112.0		1013	5.2	1.0	1	dbSNP_134	112	2,8596	2.2+/-6.3	0,2,4297	no	missense	STXBP3	NM_007269.2	43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	338/593	109336253	2,13002	2203	4299	6502	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109336253G>A	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1013G>A	1.37:g.109336253G>A	ENSP00000359025:p.Arg338Gln						p.R338Q	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	12	1063	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	338					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1013G>A	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	8.045	0.764804	0.15914	0.0	2.33E-4	ENSG00000116266	ENST00000370008	T	0.74315	-0.83	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	N	0.11892	0.195	0.53688	D	0.999972	D	0.89917	1.0	D	0.77557	0.99	T	0.61549	-0.7040	10	0.02654	T	1	-11.8175	19.0952	0.93248	0.0:0.0:1.0:0.0	.	338	O00186	STXB3_HUMAN	Q	338	ENSP00000359025:R338Q	ENSP00000359025:R338Q	R	+	2	0	STXBP3	109137776	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.445000	0.66594	2.591000	0.87537	0.563000	0.77884	CGA		0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		19	42	0	0	0	1	0	19	42				
CRHR1	1394	broad.mit.edu	37	17	43907568	43907568	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:43907568C>T	ENST00000398285.3	+	7	630	c.630C>T	c.(628-630)caC>caT	p.H210H	CRHR1_ENST00000577353.1_Silent_p.H181H|CRHR1_ENST00000352855.5_Silent_p.H141H|CRHR1_ENST00000339069.5_Silent_p.H80H|CRHR1_ENST00000314537.5_Silent_p.H181H|CRHR1_ENST00000293493.7_Silent_p.H6H	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	210					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCGAGGTCCACCAGAGCAACG	0.647																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(541-543)caC>caT		corticotropin releasing hormone receptor 1							70.0	70.0	70.0					17																	43907568		2165	4256	6421	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43907568C>T	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.630C>T	17.37:g.43907568C>T						CRHR1_ENST00000577353.1_Silent_p.H181H|CRHR1_ENST00000398285.3_Silent_p.H210H|CRHR1_ENST00000352855.5_Silent_p.H141H|CRHR1_ENST00000293493.7_Silent_p.H6H|CRHR1_ENST00000339069.5_Silent_p.H80H	p.H181H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	6	768	+	Colorectal(2;0.0416)		210					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.543C>T	CCDS45712.1																																																																																				0.647	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			6	57	0	0	0	1	0	6	57				
MUC5B	727897	broad.mit.edu	37	11	1267116	1267116	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1267116G>A	ENST00000529681.1	+	31	9064	c.9006G>A	c.(9004-9006)acG>acA	p.T3002T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T3005T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3002	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACCGCAACCA	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9013-9015)acG>acA		mucin 5B, oligomeric mucus/gel-forming							114.0	145.0	135.0					11																	1267116		2124	4228	6352	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267116G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9006G>A	11.37:g.1267116G>A						MUC5B_ENST00000529681.1_Silent_p.T3002T|RP11-532E4.2_ENST00000532061.2_RNA	p.T3005T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9073	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3002	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9015G>A	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		68	195	0	0	0	1	0	68	195				
POLN	353497	broad.mit.edu	37	4	2129906	2129906	+	Missense_Mutation	SNP	G	G	A	rs144575256		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:2129906G>A	ENST00000511885.2	-	19	2269	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	POLN_ENST00000382865.1_Missense_Mutation_p.P639L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	639					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGAAGTTCCGGATCTCCAGA	0.363								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0008	0.0	5008	,	,		19210	0.0		0.0	False		,,,				2504	0.0					ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1915-1917)cCg>cTg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	77.0	77.0	77.0		1916	5.2	1.0	4	dbSNP_134	77	0,8600		0,0,4300	yes	missense	POLN	NM_181808.2	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	639/901	2129906	2,13004	2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2129906G>A	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1916C>T	4.37:g.2129906G>A	ENSP00000435506:p.Pro639Leu					POLN_ENST00000382865.1_Missense_Mutation_p.P639L	p.P639L			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		19	2269	-			639					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1916C>T	CCDS3360.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	17.35|17.35	3.366741|3.366741	0.61513|0.61513	4.54E-4|4.54E-4	0.0|0.0	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	D;D|.	0.96685|.	-4.09;-4.09|.	5.19|5.19	5.19|5.19	0.71726|0.71726	DNA-directed DNA polymerase, family A, palm domain (2);|.	0.186561|.	0.47093|.	D|.	0.000245|.	T|T	0.80199|0.80199	0.4579|0.4579	M|M	0.88570|0.88570	2.965|2.965	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.76494|.	0.998;0.999;0.984|.	D;P;P|.	0.70016|.	0.967;0.896;0.794|.	T|T	0.83346|0.83346	-0.0005|-0.0005	10|5	0.72032|.	D|.	0.01|.	-11.5796|-11.5796	14.5632|14.5632	0.68156|0.68156	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	170;330;639|.	C9JDP8;E9PE06;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	L|W	639;639;330;170|272	ENSP00000435506:P639L;ENSP00000372316:P639L|.	ENSP00000253313:P330L|.	P|R	-|-	2|1	0|2	POLN|POLN	2099704|2099704	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.965000|3.965000	0.56788|0.56788	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.363	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		5	20	0	0	0	1	0	5	20				
ECI1	1632	broad.mit.edu	37	16	2290114	2290114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2290114G>A	ENST00000301729.4	-	7	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*|ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*|RP11-304L19.11_ENST00000565709.1_RNA	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	259					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTGGCCTTTCGCATCATGGCC	0.557																																						ENST00000301729.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(775-777)Cga>Tga		enoyl-CoA delta isomerase 1							56.0	55.0	55.0					16																	2290114		2197	4300	6497	SO:0001587	stop_gained	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2290114G>A		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.775C>T	16.37:g.2290114G>A	ENSP00000301729:p.Arg259*					ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*|ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*	p.R259*	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN			7	822	-			259					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Nonsense_Mutation	SNP	ENST00000301729.4	37	c.775C>T	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	G	40	8.364285	0.98779	.	.	ENSG00000167969	ENST00000301729	.	.	.	5.2	1.93	0.25924	.	0.058266	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6503	7.7655	0.28978	0.0829:0.0:0.623:0.2941	.	.	.	.	X	259	.	ENSP00000301729:R259X	R	-	1	2	ECI1	2230115	1.000000	0.71417	0.725000	0.30721	0.816000	0.46133	2.423000	0.44705	0.757000	0.33036	0.655000	0.94253	CGA		0.557	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			14	26	0	0	0	1	0	14	26				
ZNF551	90233	broad.mit.edu	37	19	58198231	58198231	+	Silent	SNP	C	C	T	rs150173912	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58198231C>T	ENST00000282296.5	+	3	773	c.588C>T	c.(586-588)caC>caT	p.H196H	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Silent_p.H180H			Q7Z340	ZN551_HUMAN	zinc finger protein 551	196					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)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTCCAACACGAAGCCACTC	0.498													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20263	0.0		0.001	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(586-588)caC>caT		zinc finger protein 551		C		0,4406		0,0,2203	50.0	54.0	52.0		540	-3.8	0.0	19	dbSNP_134	52	6,8592	5.0+/-18.6	0,6,4293	no	coding-synonymous	ZNF551	NM_138347.3		0,6,6496	TT,TC,CC		0.0698,0.0,0.0461		180/655	58198231	6,12998	2203	4299	6502	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198231C>T	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.588C>T	19.37:g.58198231C>T						AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.H180H	p.H196H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	773	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	196					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.588C>T	CCDS12959.2																																																																																				0.498	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		14	73	0	0	0	1	0	14	73				
UBE2U	148581	broad.mit.edu	37	1	64698334	64698334	+	Splice_Site	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:64698334T>C	ENST00000371076.3	+	7	839		c.e7+2		UBE2U_ENST00000464349.1_Splice_Site	NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)						protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						GAACTCCATGTAAGGTGAACT	0.338																																						ENST00000371077.4																			0				large_intestine(3)|lung(2)|skin(1)	6						c.e7+2		ubiquitin-conjugating enzyme E2U (putative)							148.0	135.0	139.0					1																	64698334		2203	4300	6503	SO:0001630	splice_region_variant	148581						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:64698334T>C	BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"""Ubiquitin-conjugating enzymes E2"""	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.595+2T>C	1.37:g.64698334T>C						UBE2U_ENST00000464349.1_Splice_Site|UBE2U_ENST00000371076.3_Splice_Site				Q5VVX9	UBE2U_HUMAN			7	1019	+								Q8N1D4	Splice_Site	SNP	ENST00000371076.3	37		CCDS627.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616246	0.66672	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.566	0.56310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE2U	64470922	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.160000	0.58164	2.223000	0.72356	0.482000	0.46254	.		0.338	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025005.1	NM_152489	Intron	7	26	0	0	0	1	0	7	26				
PCDHB15	56121	broad.mit.edu	37	5	140625331	140625331	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140625331G>A	ENST00000231173.3	+	1	185	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGCCGAGCGGGGAGCCCGG	0.552																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(184-186)cGg>cAg									48.0	56.0	53.0					5																	140625331		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625331G>A	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.185G>A	5.37:g.140625331G>A	ENSP00000231173:p.Arg62Gln						p.R62Q	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	185	+			62			Cadherin 1.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.185G>A	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217537	0.58560	.	.	ENSG00000113248	ENST00000231173	T	0.40225	1.04	4.92	4.92	0.64577	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.76772	0.4034	H	0.96861	3.895	0.19300	N	0.99998	D	0.71674	0.998	D	0.69307	0.963	T	0.74372	-0.3687	9	0.72032	D	0.01	.	18.0878	0.89463	0.0:0.0:1.0:0.0	.	62	Q9Y5E8	PCDBF_HUMAN	Q	62	ENSP00000231173:R62Q	ENSP00000231173:R62Q	R	+	2	0	PCDHB15	140605515	0.985000	0.35326	0.881000	0.34555	0.237000	0.25408	5.619000	0.67729	2.442000	0.82660	0.491000	0.48974	CGG		0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		36	96	0	0	0	1	0	36	96				
PXDN	7837	broad.mit.edu	37	2	1652754	1652754	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1652754C>T	ENST00000252804.4	-	17	2848	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	933					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCAGGCCGCGGTGGCTGGC	0.692																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2797-2799)cGc>cAc		peroxidasin homolog (Drosophila)							16.0	17.0	16.0					2																	1652754		1758	3768	5526	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652754C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2798G>A	2.37:g.1652754C>T	ENSP00000252804:p.Arg933His						p.R933H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2848	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	933					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2798G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631184	0.87660	.	.	ENSG00000130508	ENST00000252804	T	0.69175	-0.38	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	L	0.60067	1.865	0.53005	D	0.999968	D	0.69078	0.997	D	0.65140	0.932	T	0.77070	-0.2724	10	0.42905	T	0.14	-44.0952	19.8119	0.96549	0.0:1.0:0.0:0.0	.	933	Q92626	PXDN_HUMAN	H	933	ENSP00000252804:R933H	ENSP00000252804:R933H	R	-	2	0	PXDN	1631761	0.990000	0.36364	0.666000	0.29783	0.991000	0.79684	6.011000	0.70760	2.683000	0.91414	0.558000	0.71614	CGC		0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	34	0	0	0	1	0	11	34				
TIGD3	220359	broad.mit.edu	37	11	65124395	65124395	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65124395G>A	ENST00000309880.5	+	2	1323	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	372						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAACGCCCCCGTCCTCGCACA	0.632																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(1114-1116)ccG>ccA		tigger transposable element derived 3							54.0	61.0	59.0					11																	65124395		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65124395G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1116G>A	11.37:g.65124395G>A							p.P372P	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	1323	+			372						Silent	SNP	ENST00000309880.5	37	c.1116G>A	CCDS8101.1																																																																																				0.632	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		38	91	0	0	0	1	0	38	91				
RIT1	6016	broad.mit.edu	37	1	155874275	155874275	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155874275G>A	ENST00000368323.3	-	5	460	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	RIT1_ENST00000539040.1_Missense_Mutation_p.R50W|RIT1_ENST00000368322.3_Missense_Mutation_p.R103W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	86					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TACTGGTCCCGCATGGCTGTA	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(256-258)Cgg>Tgg		Ras-like without CAAX 1							81.0	69.0	73.0					1																	155874275		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874275G>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.256C>T	1.37:g.155874275G>A	ENSP00000357306:p.Arg86Trp					RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000539040.1_Missense_Mutation_p.R50W|RIT1_ENST00000368322.3_Missense_Mutation_p.R103W	p.R86W	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	460	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		86					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.256C>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843402	0.71488	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.79845	-1.31;-1.31;-1.31	5.76	3.67	0.42095	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	D	0.89438	0.6715	M	0.89715	3.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.92091	0.5680	10	0.87932	D	0	.	15.1118	0.72362	0.0:0.0:0.6828:0.3172	.	86	Q92963	RIT1_HUMAN	W	86;50;103	ENSP00000357306:R86W;ENSP00000441950:R50W;ENSP00000357305:R103W	ENSP00000357305:R103W	R	-	1	2	RIT1	154140899	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.459000	0.35234	1.412000	0.46977	0.467000	0.42956	CGG		0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		4	40	0	0	0	1	0	4	40				
RTP2	344892	broad.mit.edu	37	3	187416696	187416696	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:187416696G>A	ENST00000358241.1	-	2	696	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					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)		TTGAAGACGCGCATGCGCACC	0.647																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(268-270)Cgc>Tgc		receptor (chemosensory) transporter protein 2							25.0	23.0	24.0					3																	187416696		2203	4295	6498	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416696G>A	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.268C>T	3.37:g.187416696G>A	ENSP00000350976:p.Arg90Cys						p.R90C	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	696	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		90					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.268C>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.924207	0.73213	.	.	ENSG00000198471	ENST00000358241	T	0.27402	1.67	4.32	4.32	0.51571	.	0.108090	0.64402	D	0.000007	T	0.55561	0.1928	M	0.81341	2.54	0.47621	D	0.999476	D	0.89917	1.0	D	0.79784	0.993	T	0.60031	-0.7342	10	0.87932	D	0	-38.4169	12.6181	0.56588	0.0:0.0:1.0:0.0	.	90	Q5QGT7	RTP2_HUMAN	C	90	ENSP00000350976:R90C	ENSP00000350976:R90C	R	-	1	0	RTP2	188899390	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	1.887000	0.39698	2.701000	0.92244	0.563000	0.77884	CGC		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		3	34	0	0	0	1	0	3	34				
EYA2	2139	broad.mit.edu	37	20	45633591	45633591	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:45633591C>T	ENST00000327619.5	+	4	540	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	EYA2_ENST00000357410.3_Missense_Mutation_p.R56C|EYA2_ENST00000317304.6_Missense_Mutation_p.R56C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	56					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATCTTGCCCACGTGTCCTCCC	0.562																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(166-168)Cgt>Tgt		eyes absent homolog 2 (Drosophila)							83.0	87.0	86.0					20																	45633591		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633591C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.166C>T	20.37:g.45633591C>T	ENSP00000333640:p.Arg56Cys					EYA2_ENST00000357410.3_Missense_Mutation_p.R56C|EYA2_ENST00000317304.6_Missense_Mutation_p.R56C	p.R56C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			4	540	+		Myeloproliferative disorder(115;0.0241)	56					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.166C>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640302	0.67244	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.51;-2.82;-0.7	5.53	5.53	0.82687	.	0.195759	0.34268	N	0.004101	D	0.92306	0.7559	L	0.36672	1.1	0.49687	D	0.999817	B;D;B;D	0.71674	0.025;0.998;0.008;0.998	B;P;B;P	0.53861	0.004;0.736;0.003;0.736	D	0.93194	0.6586	10	0.87932	D	0	-24.8254	18.2443	0.89979	0.0:1.0:0.0:0.0	.	56;56;56;56	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	56;56;56;56;9	ENSP00000333640:R56C;ENSP00000349986:R56C;ENSP00000321590:R56C;ENSP00000395427:R9C	ENSP00000321590:R56C	R	+	1	0	EYA2	45066998	0.998000	0.40836	0.997000	0.53966	0.755000	0.42902	4.037000	0.57311	2.608000	0.88229	0.561000	0.74099	CGT		0.562	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		18	86	0	0	0	1	0	18	86				
GALNS	2588	broad.mit.edu	37	16	88898438	88898438	+	Missense_Mutation	SNP	C	C	T	rs569725890		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88898438C>T	ENST00000268695.5	-	9	1058	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GALNS_ENST00000542788.1_Missense_Mutation_p.A249T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	324	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGCCACCATGCGAGGGCAGGC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16509	0.0		0.0	False		,,,				2504	0.0				GBM(129;1929 2344 25209 33204)	ENST00000268695.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22						c.(970-972)Gca>Aca		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						85.0	63.0	71.0					16																	88898438		2198	4300	6498	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88898438C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.970G>A	16.37:g.88898438C>T	ENSP00000268695:p.Ala324Thr					GALNS_ENST00000542788.1_Missense_Mutation_p.A249T	p.A324T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	9	1058	-			324					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.970G>A	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904269	0.92035	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.98617	-5.03;-5.03	5.34	5.34	0.76211	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.921;0.941	D	0.99731	1.1012	10	0.31617	T	0.26	.	19.2116	0.93757	0.0:1.0:0.0:0.0	.	324;324	B2R6P1;P34059	.;GALNS_HUMAN	T	324;249	ENSP00000268695:A324T;ENSP00000438197:A249T	ENSP00000268695:A324T	A	-	1	0	GALNS	87425939	1.000000	0.71417	0.048000	0.18961	0.325000	0.28411	7.544000	0.82117	2.548000	0.85928	0.543000	0.68304	GCA		0.672	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			12	45	0	0	0	1	0	12	45				
KIAA0195	9772	broad.mit.edu	37	17	73482398	73482398	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73482398G>A	ENST00000314256.7	+	5	694	c.300G>A	c.(298-300)tcG>tcA	p.S100S	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.S110S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	100						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAATGCCTCGGCCTTGTTCC	0.657																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(298-300)tcG>tcA		KIAA0195							145.0	145.0	145.0					17																	73482398		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73482398G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.300G>A	17.37:g.73482398G>A						KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.S110S	p.S100S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	694	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		100					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.300G>A	CCDS32732.1																																																																																				0.657	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		39	152	0	0	0	1	0	39	152				
NMBR	4829	broad.mit.edu	37	6	142399950	142399950	+	Silent	SNP	G	G	A	rs574520128		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:142399950G>A	ENST00000258042.1	-	2	653	c.513C>T	c.(511-513)tcC>tcT	p.S171S	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	171					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAGCAACACGGAGACCACCC	0.532																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(511-513)tcC>tcT		neuromedin B receptor							115.0	99.0	104.0					6																	142399950		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399950G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.513C>T	6.37:g.142399950G>A							p.S171S	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	653	-	Breast(32;0.155)		171					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.513C>T	CCDS5196.1																																																																																				0.532	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			29	71	0	0	0	1	0	29	71				
KCNJ2	3759	broad.mit.edu	37	17	68171232	68171232	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:68171232G>A	ENST00000243457.3	+	2	435	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18S	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	18					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(52-54)Ggt>Agt		potassium inwardly-rectifying channel, subfamily J, member 2							76.0	72.0	73.0					17																	68171232		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171232G>A	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.52G>A	17.37:g.68171232G>A	ENSP00000243457:p.Gly18Ser					KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18S	p.G18S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	435	+	Breast(10;1.64e-08)		18					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.52G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202210	0.79127	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	T;T	0.71579	-0.58;-0.58	5.79	5.79	0.91817	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.104764	0.64402	D	0.000006	T	0.70798	0.3265	L	0.50333	1.59	0.80722	D	1	P	0.48230	0.907	P	0.44561	0.453	T	0.69139	-0.5224	9	.	.	.	.	20.0435	0.97601	0.0:0.0:1.0:0.0	.	18	P63252	IRK2_HUMAN	S	18	ENSP00000441848:G18S;ENSP00000243457:G18S	.	G	+	1	0	KCNJ2	65682827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.006000	0.88564	2.731000	0.93534	0.650000	0.86243	GGT		0.522	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		19	51	0	0	0	1	0	19	51				
DENND1C	79958	broad.mit.edu	37	19	6467555	6467555	+	Missense_Mutation	SNP	C	C	T	rs372522125		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:6467555C>T	ENST00000381480.2	-	23	2478	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R745Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	789					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GACTCTGGGCCGGCTGCTGGG	0.572																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(2365-2367)cGg>cAg		DENN/MADD domain containing 1C		C	GLN/ARG	0,3762		0,0,1881	48.0	50.0	50.0		2366	-3.0	0.0	19		50	1,8235		0,1,4117	no	missense	DENND1C	NM_024898.2	43	0,1,5998	TT,TC,CC		0.0121,0.0,0.0083	benign	789/802	6467555	1,11997	1881	4118	5999	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467555C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.2366G>A	19.37:g.6467555C>T	ENSP00000370889:p.Arg789Gln					DENND1C_ENST00000543576.1_Missense_Mutation_p.R745Q	p.R789Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			23	2478	-			789					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.2366G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	3.352	-0.132285	0.06753	0.0	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11604	2.93;2.76	5.06	-3.0	0.05480	.	1.396020	0.05495	N	0.557407	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	10	0.07325	T	0.83	-2.6155	6.097	0.20025	0.147:0.1564:0.0:0.6966	.	789	Q8IV53	DEN1C_HUMAN	Q	789;745	ENSP00000370889:R789Q;ENSP00000437805:R745Q	ENSP00000370889:R789Q	R	-	2	0	DENND1C	6418555	0.000000	0.05858	0.036000	0.18154	0.233000	0.25261	-1.159000	0.03150	-0.398000	0.07679	0.306000	0.20318	CGG		0.572	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		19	51	0	0	0	1	0	19	51				
TFAP4	7023	broad.mit.edu	37	16	4312619	4312619	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312619C>T	ENST00000204517.6	-	2	501	c.173G>A	c.(172-174)cGg>cAg	p.R58Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	58	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CATGCGTCTCCGCTCGTTGCT	0.622																																						ENST00000204517.6																			0				NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(172-174)cGg>cAg		transcription factor AP-4 (activating enhancer binding protein 4)							116.0	110.0	112.0					16																	4312619		2197	4300	6497	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4312619C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.173G>A	16.37:g.4312619C>T	ENSP00000204517:p.Arg58Gln						p.R58Q	NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN			2	501	-			58					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.173G>A	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	36	5.859174	0.97036	.	.	ENSG00000090447	ENST00000204517	D	0.99382	-5.8	5.57	5.57	0.84162	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.99253	1.0888	10	0.42905	T	0.14	.	18.3242	0.90247	0.0:1.0:0.0:0.0	.	58	Q01664	TFAP4_HUMAN	Q	58	ENSP00000204517:R58Q	ENSP00000204517:R58Q	R	-	2	0	TFAP4	4252620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.216000	0.77974	2.618000	0.88619	0.591000	0.81541	CGG		0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		30	110	0	0	0	1	0	30	110				
EPHB3	2049	broad.mit.edu	37	3	184294936	184294936	+	Missense_Mutation	SNP	G	G	A	rs370732996		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184294936G>A	ENST00000330394.2	+	5	1771	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	440	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in dbSNP:rs56029711). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCCGCCTCGTTATGCGGCC	0.632																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1318-1320)cGt>cAt		EPH receptor B3							34.0	32.0	33.0					3																	184294936		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294936G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1319G>A	3.37:g.184294936G>A	ENSP00000332118:p.Arg440His					EIF2B5_ENST00000444495.1_Intron	p.R440H	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1771	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		440		R -> C (in dbSNP:rs56029711).	Fibronectin type-III 1.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1319G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628228	0.28978	.	.	ENSG00000182580	ENST00000330394	T	0.73789	-0.78	5.3	5.3	0.74995	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.196420	0.45606	D	0.000352	T	0.48840	0.1522	N	0.02916	-0.46	0.37725	D	0.925046	B	0.12630	0.006	B	0.04013	0.001	T	0.52682	-0.8543	10	0.56958	D	0.05	.	8.0953	0.30824	0.1744:0.0:0.8256:0.0	.	440	P54753	EPHB3_HUMAN	H	440	ENSP00000332118:R440H	ENSP00000332118:R440H	R	+	2	0	EPHB3	185777630	1.000000	0.71417	0.983000	0.44433	0.096000	0.18686	6.293000	0.72731	2.639000	0.89480	0.448000	0.29417	CGT		0.632	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		16	28	0	0	0	1	0	16	28				
PCDHGA1	56114	broad.mit.edu	37	5	140712516	140712516	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140712516C>T	ENST00000517417.1	+	1	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGA1_ENST00000378105.3_Silent_p.H755H	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	755					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.607																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2263-2265)caC>caT									78.0	84.0	82.0					5																	140712516		2203	4296	6499	SO:0001819	synonymous_variant	0							g.chr5:140712516C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2265C>T	5.37:g.140712516C>T						PCDHGA1_ENST00000378105.3_Silent_p.H755H	p.H755H	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2265	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2265C>T	CCDS54922.1																																																																																				0.607	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		64	157	0	0	0	1	0	64	157				
NPR2	4882	broad.mit.edu	37	9	35809979	35809979	+	IGR	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:35809979C>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000484764.1_Missense_Mutation_p.G464R|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Missense_Mutation_p.G472R|SPAG8_ENST00000479751.1_5'UTR|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000340291.2_Intron	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCCTTCCTCCGGGACAGGGA	0.507																																						ENST00000484764.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1390-1392)Gga>Aga		sperm associated antigen 8							151.0	159.0	156.0					9																	35809979		2000	4190	6190	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35809979C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35809979C>T						SPAG8_ENST00000396638.2_Missense_Mutation_p.G472R|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron	p.G464R			Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1430	-	all_epithelial(49;0.161)		99					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1390G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	5.813	0.334329	0.11013	.	.	ENSG00000137098	ENST00000484764;ENST00000396638	T;T	0.53423	0.64;0.62	5.21	1.28	0.21552	.	.	.	.	.	T	0.35158	0.0922	L	0.36672	1.1	0.24112	N	0.995831	B	0.29301	0.241	B	0.22386	0.039	T	0.21586	-1.0241	9	0.87932	D	0	.	9.2101	0.37313	0.0:0.6724:0.0:0.3276	.	472	E9PDV6	.	R	464;472	ENSP00000418072:G464R;ENSP00000379878:G472R	ENSP00000379878:G472R	G	-	1	0	SPAG8	35799979	0.099000	0.21834	0.950000	0.38849	0.005000	0.04900	0.165000	0.16564	0.058000	0.16222	-0.797000	0.03246	GGA		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			59	165	0	0	0	1	0	59	165				
ASGR2	433	broad.mit.edu	37	17	7005025	7005025	+	Missense_Mutation	SNP	C	C	T	rs144253358		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7005025C>T	ENST00000380952.2	-	9	1069	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	ASGR2_ENST00000355035.5_Missense_Mutation_p.G269R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G250R|ASGR2_ENST00000254850.7_Missense_Mutation_p.G245R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	269	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCTCGTGCCCGTGCCAATTA	0.567																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(805-807)Ggg>Agg		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	75.0	66.0	69.0		805,790,805,733,748	4.5	0.1	17	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ASGR2	NM_001181.4,NM_001201352.1,NM_080912.3,NM_080913.3,NM_080914.2	125,125,125,125,125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	269/312,264/307,269/312,245/288,250/293	7005025	1,13005	2203	4300	6503	SO:0001583	missense	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7005025C>T	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.805G>A	17.37:g.7005025C>T	ENSP00000370339:p.Gly269Arg					ASGR2_ENST00000355035.5_Missense_Mutation_p.G269R|ASGR2_ENST00000254850.7_Missense_Mutation_p.G245R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G250R	p.G269R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			9	1069	-			269			C-type lectin.		A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	ENST00000380952.2	37	c.805G>A	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375377	0.61735	0.0	1.16E-4	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.01165	5.24;5.32;5.24;5.29	4.54	4.54	0.55810	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.44688	D	0.000426	T	0.07773	0.0195	M	0.86740	2.835	0.19300	N	0.999979	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.01786	-1.1274	10	0.87932	D	0	.	12.7091	0.57080	0.0:1.0:0.0:0.0	.	245;269;264;250;269	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	R	269;245;269;250	ENSP00000347140:G269R;ENSP00000254850:G245R;ENSP00000370339:G269R;ENSP00000405844:G250R	ENSP00000254850:G245R	G	-	1	0	ASGR2	6945749	0.821000	0.29204	0.098000	0.21074	0.003000	0.03518	3.941000	0.56607	2.383000	0.81215	0.644000	0.83932	GGG		0.567	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		17	37	0	0	0	1	0	17	37				
MYO5A	4644	broad.mit.edu	37	15	52667640	52667640	+	Missense_Mutation	SNP	C	C	T	rs561485938		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52667640C>T	ENST00000399231.3	-	20	2681	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	MYO5A_ENST00000358212.6_Missense_Mutation_p.R813H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R813H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R813H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R813H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	813	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		16937	0.0		0.0	False		,,,				2504	0.001					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2437-2439)cGc>cAc		myosin VA (heavy chain 12, myoxin)							85.0	80.0	81.0					15																	52667640		1914	4122	6036	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52667640C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2438G>A	15.37:g.52667640C>T	ENSP00000382177:p.Arg813His					MYO5A_ENST00000356338.6_Missense_Mutation_p.R813H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R813H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R813H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R813H	p.R813H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	20	2681	-			813			IQ 2.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2438G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407693	0.83340	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	5.34	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.85197	2.74	0.58432	D	0.999999	D;D	0.76494	0.964;0.999	P;D	0.63113	0.815;0.911	D	0.97871	1.0286	10	0.87932	D	0	.	14.2355	0.65925	0.0:0.9276:0.0:0.0724	.	813;813	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	813;347;813;813;813;443;813	ENSP00000382177:R813H;ENSP00000382179:R813H;ENSP00000348693:R813H;ENSP00000350945:R813H;ENSP00000451109:R813H	ENSP00000348693:R813H	R	-	2	0	MYO5A	50454932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.477000	0.60223	1.254000	0.44035	0.545000	0.68477	CGC		0.413	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		14	27	0	0	0	1	0	14	27				
MYO9A	4649	broad.mit.edu	37	15	72197283	72197283	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72197283C>T	ENST00000356056.5	-	20	3222	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	MYO9A_ENST00000564571.1_Missense_Mutation_p.R917H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R898H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R917H|MYO9A_ENST00000566885.1_Missense_Mutation_p.R537H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	917	Actin-binding. {ECO:0000250}.|Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCATTAGAGCGAATGCATTT	0.348																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2749-2751)cGc>cAc		myosin IXA							139.0	130.0	133.0					15																	72197283		2198	4297	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72197283C>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2750G>A	15.37:g.72197283C>T	ENSP00000348349:p.Arg917His					MYO9A_ENST00000564571.1_Missense_Mutation_p.R917H|MYO9A_ENST00000444904.1_Missense_Mutation_p.R898H|MYO9A_ENST00000566885.1_Missense_Mutation_p.R537H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R917H	p.R917H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			20	3222	-			917			Actin-binding (By similarity).|Myosin head-like 2.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2750G>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061886	0.93846	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.88046	-2.33;-2.33;-2.33	5.07	5.07	0.68467	Myosin head, motor domain (2);	.	.	.	.	D	0.94029	0.8087	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94606	0.7800	9	0.87932	D	0	.	18.6536	0.91440	0.0:1.0:0.0:0.0	.	898;898;917	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	H	917;917;898;898	ENSP00000348349:R917H;ENSP00000399162:R917H;ENSP00000398250:R898H	ENSP00000261864:R898H	R	-	2	0	MYO9A	69984337	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.205000	0.77881	2.646000	0.89796	0.655000	0.94253	CGC		0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		12	36	0	0	0	1	0	12	36				
SCYL1	57410	broad.mit.edu	37	11	65303495	65303495	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65303495G>A	ENST00000270176.5	+	11	1535	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	SCYL1_ENST00000525364.1_Silent_p.A486A|SCYL1_ENST00000533862.1_Silent_p.A486A|SCYL1_ENST00000527009.1_Silent_p.A343A|SCYL1_ENST00000279270.6_Silent_p.A486A|SCYL1_ENST00000420247.2_Silent_p.A486A|SCYL1_ENST00000524944.1_Silent_p.A486A	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)	p.A486A(1)		ovary(1)|skin(1)	2						CCCGGGTTGCGGGTGTCCTGG	0.597																																						ENST00000524944.1																			1	Substitution - coding silent(1)	p.A486A(1)	lung(1)	ovary(1)|skin(1)	2						c.(1456-1458)gcG>gcA		SCY1-like 1 (S. cerevisiae)							78.0	79.0	79.0					11																	65303495		1921	4126	6047	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65303495G>A	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1458G>A	11.37:g.65303495G>A						SCYL1_ENST00000527009.1_Silent_p.A343A|SCYL1_ENST00000270176.5_Silent_p.A486A|SCYL1_ENST00000279270.6_Silent_p.A486A|SCYL1_ENST00000525364.1_Silent_p.A486A|SCYL1_ENST00000527630.1_Silent_p.A486A|SCYL1_ENST00000420247.2_Silent_p.A486A|SCYL1_ENST00000533862.1_Silent_p.A486A	p.A486A			Q96KG9	NTKL_HUMAN			11	1491	+			486					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.1458G>A	CCDS41672.1																																																																																				0.597	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		31	74	0	0	0	1	0	31	74				
NRBP1	29959	broad.mit.edu	37	2	27658073	27658073	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27658073G>A	ENST00000233557.3	+	8	1472	c.640G>A	c.(640-642)Gga>Aga	p.G214R	NRBP1_ENST00000379863.3_Missense_Mutation_p.G214R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G214R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGCACAACGGACTCATCAA	0.582																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(640-642)Gga>Aga		nuclear receptor binding protein 1							96.0	81.0	86.0					2																	27658073		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27658073G>A	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.640G>A	2.37:g.27658073G>A	ENSP00000233557:p.Gly214Arg					NRBP1_ENST00000379863.3_Missense_Mutation_p.G214R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G214R	p.G214R			Q9UHY1	NRBP_HUMAN			8	1472	+	Acute lymphoblastic leukemia(172;0.155)		214			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.640G>A	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672414	0.88348	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.78246	-1.16;-1.16;-1.16	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.93592	0.6922	10	0.87932	D	0	-11.2068	18.1981	0.89829	0.0:0.0:1.0:0.0	.	214;214	F8W6G1;Q9UHY1	.;NRBP_HUMAN	R	214;194;214;214	ENSP00000233557:G214R;ENSP00000369181:G214R;ENSP00000369192:G214R	ENSP00000233557:G214R	G	+	1	0	NRBP1	27511577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.725000	0.98778	2.637000	0.89404	0.655000	0.94253	GGA		0.582	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		7	72	0	0	0	1	0	7	72				
GHDC	84514	broad.mit.edu	37	17	40342329	40342329	+	Intron	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40342329G>T	ENST00000301671.8	-	8	1730				GHDC_ENST00000428494.2_Intron|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000593209.1_Intron|GHDC_ENST00000414034.3_Missense_Mutation_p.P446Q|GHDC_ENST00000436923.2_Missense_Mutation_p.P446Q			Q8N2G8	GHDC_HUMAN	GH3 domain containing							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCGGTGAATGGGCAGCTGCC	0.537																																						ENST00000414034.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1336-1338)cCa>cAa		GH3 domain containing							76.0	68.0	71.0					17																	40342329		2203	4300	6503	SO:0001627	intron_variant	84514					endoplasmic reticulum|nuclear envelope		g.chr17:40342329G>T	AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1289-41C>A	17.37:g.40342329G>T						GHDC_ENST00000593209.1_Intron|GHDC_ENST00000301671.8_Intron|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000428494.2_Intron|GHDC_ENST00000436923.2_Missense_Mutation_p.P446Q	p.P446Q	NM_001142623.1	NP_001136095.1	Q8N2G8	GHDC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	9	1535	-		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)	363					B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	ENST00000301671.8	37	c.1337C>A	CCDS11422.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548113	0.45383	.	.	ENSG00000167925	ENST00000414034;ENST00000436923	.	.	.	4.31	-0.193	0.13244	.	.	.	.	.	T	0.27594	0.0678	.	.	.	0.09310	N	1	P	0.48016	0.904	B	0.42798	0.398	T	0.14448	-1.0472	7	0.56958	D	0.05	.	4.0854	0.09945	0.3145:0.1731:0.5123:0.0	.	446	Q8N2G8-2	.	Q	446	.	ENSP00000399952:P446Q	P	-	2	0	GHDC	37595855	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.258000	0.02863	-0.147000	0.11254	0.561000	0.74099	CCA		0.537	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449794.1	NM_032484		15	26	1	0	1.49906e-05	1	1.53742e-05	15	26				
PJA1	64219	broad.mit.edu	37	X	68381892	68381892	+	Missense_Mutation	SNP	G	G	A	rs180767696		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:68381892G>A	ENST00000361478.1	-	2	1567	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	PJA1_ENST00000374584.3_Missense_Mutation_p.P209L|PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374571.4_Missense_Mutation_p.P342L|PJA1_ENST00000374583.1_Missense_Mutation_p.P397L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	397					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTTCCCCGGCAGAGTCTC	0.627													g|||	1	0.000264901	0.0	0.0	3775	,	,		12523	0.0		0.001	False		,,,				2504	0.0					ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(1189-1191)cCg>cTg		praja ring finger 1, E3 ubiquitin protein ligase							29.0	30.0	30.0					X																	68381892		2203	4298	6501	SO:0001583	missense	64219						zinc ion binding	g.chrX:68381892G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1190C>T	X.37:g.68381892G>A	ENSP00000355014:p.Pro397Leu					PJA1_ENST00000374584.3_Missense_Mutation_p.P209L|PJA1_ENST00000374583.1_Missense_Mutation_p.P397L|PJA1_ENST00000374571.4_Missense_Mutation_p.P342L	p.P397L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	1567	-			397					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1190C>T	CCDS14393.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	11.72	1.723382	0.30503	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	3.44	1.58	0.23477	.	0.116572	0.37178	N	0.002212	T	0.07279	0.0184	M	0.62723	1.935	0.39391	D	0.966412	B;B	0.14012	0.002;0.009	B;B	0.12156	0.002;0.007	T	0.13737	-1.0498	10	0.87932	D	0	-1.3169	5.2268	0.15399	0.1214:0.0:0.6753:0.2033	.	397;209	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	L	312;209;397;397;342	ENSP00000363712:P209L;ENSP00000363711:P397L;ENSP00000355014:P397L;ENSP00000363699:P342L	ENSP00000355014:P397L	P	-	2	0	PJA1	68298617	0.998000	0.40836	0.001000	0.08648	0.035000	0.12851	3.419000	0.52728	0.295000	0.22570	0.540000	0.68198	CCG		0.627	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		17	23	0	0	0	1	0	17	23				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	151	0	0	0	1	0	5	151				
EIF3B	8662	broad.mit.edu	37	7	2404100	2404100	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2404100T>A	ENST00000360876.4	+	6	1149	c.1093T>A	c.(1093-1095)Ttc>Atc	p.F365I	EIF3B_ENST00000397011.2_Missense_Mutation_p.F365I	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGGAGAGAAATTCAAGCAAAT	0.478																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1093-1095)Ttc>Atc		eukaryotic translation initiation factor 3, subunit B							100.0	104.0	102.0					7																	2404100		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2404100T>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1093T>A	7.37:g.2404100T>A	ENSP00000354125:p.Phe365Ile					EIF3B_ENST00000397011.2_Missense_Mutation_p.F365I	p.F365I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	6	1149	+		Ovarian(82;0.0253)	365			Sufficient for interaction with EIF3E.			Missense_Mutation	SNP	ENST00000360876.4	37	c.1093T>A	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	T	35	5.476870	0.96291	.	.	ENSG00000106263	ENST00000431643;ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T;T	0.38401	1.14;1.14;1.14	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.76071	0.776;0.987	T	0.68360	-0.5429	10	0.87932	D	0	-34.706	16.3829	0.83481	0.0:0.0:0.0:1.0	.	326;365	A4D210;P55884	.;EIF3B_HUMAN	I	93;365;365;365;289	ENSP00000408062:F93I;ENSP00000354125:F365I;ENSP00000380206:F365I	ENSP00000316638:F365I	F	+	1	0	EIF3B	2370626	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.590000	0.82653	2.271000	0.75665	0.459000	0.35465	TTC		0.478	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			6	130	0	0	0	1	0	6	130				
HOXC10	3226	broad.mit.edu	37	12	54379096	54379096	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:54379096C>T	ENST00000303460.4	+	1	127	c.53C>T	c.(52-54)gCg>gTg	p.A18V	HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	18					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCCTTGGCTGCGCCCGGCGGA	0.597																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(52-54)gCg>gTg		homeobox C10							68.0	81.0	76.0					12																	54379096		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379096C>T		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.53C>T	12.37:g.54379096C>T	ENSP00000307321:p.Ala18Val					HOXC-AS3_ENST00000514702.1_RNA	p.A18V	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			1	127	+			18					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.53C>T	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803926	0.31869	.	.	ENSG00000180818	ENST00000303460	D	0.91295	-2.82	4.18	1.32	0.21799	.	0.242947	0.39274	N	0.001407	T	0.77519	0.4142	N	0.22421	0.69	0.33997	D	0.649802	B	0.31503	0.326	B	0.16289	0.015	T	0.71421	-0.4598	10	0.33940	T	0.23	.	4.7078	0.12858	0.0:0.4684:0.2542:0.2774	.	18	Q9NYD6	HXC10_HUMAN	V	18	ENSP00000307321:A18V	ENSP00000307321:A18V	A	+	2	0	HOXC10	52665363	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	3.235000	0.51328	0.180000	0.19960	0.549000	0.68633	GCG		0.597	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			44	130	0	0	0	1	0	44	130				
KDM6B	23135	broad.mit.edu	37	17	7753465	7753465	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7753465A>T	ENST00000448097.2	+	13	3974	c.3643A>T	c.(3643-3645)Atc>Ttc	p.I1215F	KDM6B_ENST00000254846.5_Missense_Mutation_p.I1215F			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1215					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CATCACAGTGATCCGGGGCCT	0.592																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(3643-3645)Atc>Ttc		lysine (K)-specific demethylase 6B							52.0	47.0	48.0					17																	7753465		2201	4300	6501	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7753465A>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3643A>T	17.37:g.7753465A>T	ENSP00000412513:p.Ile1215Phe					KDM6B_ENST00000448097.2_Missense_Mutation_p.I1215F	p.I1215F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			13	4032	+			1215					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.3643A>T		.	.	.	.	.	.	.	.	.	.	A	16.54	3.153232	0.57259	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.75260	-0.92;-0.92	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.978;0.998	D	0.88816	0.3295	10	0.87932	D	0	-13.6214	14.7291	0.69368	1.0:0.0:0.0:0.0	.	1215;1215	O15054;O15054-1	KDM6B_HUMAN;.	F	1215	ENSP00000254846:I1215F;ENSP00000412513:I1215F	ENSP00000254846:I1215F	I	+	1	0	KDM6B	7694190	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.682000	0.91232	2.198000	0.70561	0.533000	0.62120	ATC		0.592	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		9	40	0	0	0	1	0	9	40				
NEB	4703	broad.mit.edu	37	2	152387573	152387573	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152387573A>C	ENST00000172853.10	-	117	16609	c.16462T>G	c.(16462-16464)Tac>Gac	p.Y5488D	NEB_ENST00000603639.1_Missense_Mutation_p.Y7189D|NEB_ENST00000397345.3_Missense_Mutation_p.Y7189D|NEB_ENST00000409198.1_Missense_Mutation_p.Y5488D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7189D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7189D			P20929	NEBU_HUMAN	nebulin	5488					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGGTGTAGCCTCTGGGT	0.403																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(21565-21567)Tac>Gac		nebulin							180.0	179.0	179.0					2																	152387573		2004	4164	6168	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152387573A>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16462T>G	2.37:g.152387573A>C	ENSP00000172853:p.Tyr5488Asp					NEB_ENST00000409198.1_Missense_Mutation_p.Y5488D|NEB_ENST00000172853.10_Missense_Mutation_p.Y5488D|NEB_ENST00000427231.2_Missense_Mutation_p.Y7189D|NEB_ENST00000603639.1_Missense_Mutation_p.Y7189D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7189D	p.Y7189D	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	145	21767	-			5488					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.21565T>G		.	.	.	.	.	.	.	.	.	.	A	28.1	4.887419	0.91814	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.12255	2.96;2.7;2.87;2.83;2.96	6.07	6.07	0.98685	.	0.054859	0.85682	D	0.000000	T	0.40423	0.1116	M	0.79805	2.47	0.80722	D	1	D;D	0.76494	0.999;0.978	D;D	0.68943	0.961;0.937	T	0.21348	-1.0248	10	0.51188	T	0.08	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	5488;1919	P20929;Q14215	NEBU_HUMAN;.	D	5488;7189;7189;1537;1919;5488	ENSP00000386259:Y5488D;ENSP00000380505:Y7189D;ENSP00000416578:Y7189D;ENSP00000410961:Y1919D;ENSP00000172853:Y5488D	ENSP00000172853:Y5488D	Y	-	1	0	NEB	152095819	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	TAC		0.403	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	18	0	0	0	1	0	9	18				
ATP10A	57194	broad.mit.edu	37	15	25953223	25953223	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:25953223G>A	ENST00000356865.6	-	12	2586	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	825					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTTGCAACCAGCAGGCATACT	0.567																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2473-2475)tgC>tgT		ATPase, class V, type 10A							79.0	73.0	75.0					15																	25953223		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953223G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2475C>T	15.37:g.25953223G>A							p.C825C	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	12	2586	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	825					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2475C>T	CCDS32178.1																																																																																				0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	74	0	0	0	1	0	10	74				
STK4	6789	broad.mit.edu	37	20	43623811	43623811	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:43623811C>A	ENST00000372806.3	+	6	701	c.606C>A	c.(604-606)aaC>aaA	p.N202K	STK4_ENST00000396731.4_Missense_Mutation_p.N202K|STK4_ENST00000499879.2_Missense_Mutation_p.N147K|STK4_ENST00000372801.1_Missense_Mutation_p.N202K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTGGATACAACTGTGTAGCAG	0.448																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(604-606)aaC>aaA		serine/threonine kinase 4							139.0	133.0	135.0					20																	43623811		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43623811C>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.606C>A	20.37:g.43623811C>A	ENSP00000361892:p.Asn202Lys					STK4_ENST00000372801.1_Missense_Mutation_p.N202K|STK4_ENST00000499879.2_Missense_Mutation_p.N147K|STK4_ENST00000396731.4_Missense_Mutation_p.N202K	p.N202K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			6	701	+		Myeloproliferative disorder(115;0.0122)	202			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.606C>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090184	0.76756	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	5.9	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.28344	0.845	0.52099	D	0.999945	P;D;D;D	0.64830	0.936;0.994;0.986;0.983	P;P;P;P	0.59595	0.511;0.86;0.728;0.786	T	0.00330	-1.1812	10	0.87932	D	0	.	8.0261	0.30438	0.0:0.7609:0.0:0.2391	.	147;202;202;202	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	K	202;202;202;147	ENSP00000361892:N202K;ENSP00000379957:N202K;ENSP00000361887:N202K;ENSP00000443514:N147K	ENSP00000361887:N202K	N	+	3	2	STK4	43057225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.518000	0.35877	2.806000	0.96561	0.655000	0.94253	AAC		0.448	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		38	81	1	0	2.09667e-21	1	2.20252e-21	38	81				
LRP2	4036	broad.mit.edu	37	2	170099968	170099968	+	Silent	SNP	C	C	T	rs186494101		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:170099968C>T	ENST00000263816.3	-	23	3780	c.3495G>A	c.(3493-3495)tcG>tcA	p.S1165S	LRP2_ENST00000443831.1_Silent_p.S1028S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1165	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACAGACAAACGATAGGTCAA	0.373													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21200	0.0		0.0	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3493-3495)tcG>tcA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						257.0	223.0	235.0					2																	170099968		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099968C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3495G>A	2.37:g.170099968C>T						LRP2_ENST00000443831.1_Silent_p.S1028S	p.S1165S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	23	3780	-			1165			LDL-receptor class A 11.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3495G>A	CCDS2232.1																																																																																				0.373	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		27	98	0	0	0	1	0	27	98				
PTCH2	8643	broad.mit.edu	37	1	45295123	45295123	+	Missense_Mutation	SNP	G	G	A	rs566147210		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45295123G>A	ENST00000372192.3	-	9	1296	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A389V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	389					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTCAGAGAACGCATGCAGGAT	0.622									Basal Cell Nevus syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		19553	0.0		0.0	False		,,,				2504	0.0					ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1165-1167)gCg>gTg		patched 2							120.0	121.0	120.0					1																	45295123		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295123G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1166C>T	1.37:g.45295123G>A	ENSP00000361266:p.Ala389Val					PTCH2_ENST00000372192.3_Missense_Mutation_p.A389V	p.A389V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			9	1177	-	Acute lymphoblastic leukemia(166;0.155)		389					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.1166C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190097	0.58017	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.91945	-2.94;-2.94	4.74	4.74	0.60224	.	0.227351	0.31450	N	0.007629	D	0.84056	0.5388	N	0.08118	0	0.38830	D	0.955832	B;P	0.35700	0.15;0.516	B;B	0.34346	0.075;0.18	D	0.86101	0.1556	10	0.46703	T	0.11	-26.6342	17.515	0.87770	0.0:0.0:1.0:0.0	.	389;389	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	389	ENSP00000389703:A389V;ENSP00000361266:A389V	ENSP00000361266:A389V	A	-	2	0	PTCH2	45067710	1.000000	0.71417	0.040000	0.18447	0.882000	0.50991	7.308000	0.78929	2.467000	0.83353	0.561000	0.74099	GCG		0.622	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		49	103	0	0	0	1	0	49	103				
ACHE	43	broad.mit.edu	37	7	100490935	100490935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100490935G>A	ENST00000412389.1	-	1	1074	c.919C>T	c.(919-921)Cga>Tga	p.R307*	ACHE_ENST00000302913.4_Nonsense_Mutation_p.R307*|ACHE_ENST00000411582.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000428317.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000419336.2_Nonsense_Mutation_p.R307*|ACHE_ENST00000241069.5_Nonsense_Mutation_p.R307*|ACHE_ENST00000497647.1_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	307					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TGCGCTGGTCGTGTCCGAAGG	0.627																																						ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(919-921)Cga>Tga		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)						83.0	63.0	70.0					7																	100490935		2203	4300	6503	SO:0001587	stop_gained	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100490935G>A		CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.919C>T	7.37:g.100490935G>A	ENSP00000394976:p.Arg307*					ACHE_ENST00000241069.5_Nonsense_Mutation_p.R307*|ACHE_ENST00000412389.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000411582.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000428317.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000419336.2_Nonsense_Mutation_p.R307*	p.R307*	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	1057	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		307					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Nonsense_Mutation	SNP	ENST00000412389.1	37	c.919C>T	CCDS5709.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624617	0.87560	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451	.	.	.	4.95	3.03	0.35002	.	0.121984	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	10.7151	0.46008	0.0:0.0:0.497:0.503	.	.	.	.	X	307	.	ENSP00000241069:R307X	R	-	1	2	ACHE	100328871	0.004000	0.15560	0.923000	0.36655	0.955000	0.61496	1.041000	0.30291	0.415000	0.25817	0.484000	0.47621	CGA		0.627	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		15	26	0	0	0	1	0	15	26				
APBB2	323	broad.mit.edu	37	4	40946968	40946968	+	Missense_Mutation	SNP	G	G	A	rs538682911		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:40946968G>A	ENST00000295974.8	-	7	1584	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	APBB2_ENST00000513140.1_Missense_Mutation_p.R319W|APBB2_ENST00000508593.1_Missense_Mutation_p.R320W|APBB2_ENST00000506352.1_Missense_Mutation_p.R319W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGACGGGCCGTTCCCACTGA	0.527																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(955-957)Cgg>Tgg		amyloid beta (A4) precursor protein-binding, family B, member 2							105.0	108.0	107.0					4																	40946968		1980	4178	6158	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40946968G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.955C>T	4.37:g.40946968G>A	ENSP00000295974:p.Arg319Trp					APBB2_ENST00000508593.1_Missense_Mutation_p.R320W|APBB2_ENST00000513140.1_Missense_Mutation_p.R319W|APBB2_ENST00000506352.1_Missense_Mutation_p.R319W	p.R319W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			7	1584	-			319			WW.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.955C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.34|16.34	3.097130|3.097130	0.56075|0.56075	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352|ENST00000513611	D;D;D;D|.	0.84370|.	-1.84;-1.84;-1.84;-1.84|.	5.82|5.82	5.82|5.82	0.92795|0.92795	WW/Rsp5/WWP (6);|.	0.051195|.	0.85682|.	D|.	0.000000|.	T|T	0.72724|0.72724	0.3496|0.3496	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.87578|.	0.998;0.996;0.944;0.996|.	T|T	0.67921|0.67921	-0.5545|-0.5545	10|5	0.72032|.	D|.	0.01|.	-14.6125|-14.6125	20.0853|20.0853	0.97797|0.97797	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	302;320;319;319|.	B4DJ88;E9PG87;Q92870-2;Q92870|.	.;.;.;APBB2_HUMAN|.	W|M	319;318;319;320;319|309	ENSP00000295974:R319W;ENSP00000426018:R319W;ENSP00000427211:R320W;ENSP00000421539:R319W|.	ENSP00000295974:R319W|.	R|T	-|-	1|2	2|0	APBB2|APBB2	40641725|40641725	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.332000|0.332000	0.28634|0.28634	3.791000|3.791000	0.55469|0.55469	2.761000|2.761000	0.94854|0.94854	0.591000|0.591000	0.81541|0.81541	CGG|ACG		0.527	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		22	84	0	0	0	1	0	22	84				
IL17B	27190	broad.mit.edu	37	5	148756445	148756445	+	Silent	SNP	C	C	T	rs376026730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.001					ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(163-165)ccG>ccA		interleukin 17B		C		0,4406		0,0,2203	105.0	99.0	101.0		165	-9.9	0.0	5		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL17B	NM_014443.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		55/181	148756445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148756445C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"""Interleukins and interleukin receptors"""	5982	protein-coding gene	gene with protein product	"""neuronal interleukin-17-related factor"""	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.165G>A	5.37:g.148756445C>T						IL17B_ENST00000505432.1_5'UTR	p.P55P	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	215	-			55					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.165G>A	CCDS4297.1																																																																																				0.622	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		38	97	0	0	0	1	0	38	97				
RP1L1	94137	broad.mit.edu	37	8	10480680	10480680	+	Missense_Mutation	SNP	G	G	A	rs199642627	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:10480680G>A	ENST00000382483.3	-	2	255	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	11					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642													g|||	4	0.000798722	0.0023	0.0	5008	,	,		15480	0.001		0.0	False		,,,				2504	0.0					ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(31-33)cCg>cTg		retinitis pigmentosa 1-like 1			LEU/PRO	15,3933		0,15,1959	30.0	33.0	32.0		32	2.5	0.2	8		32	1,8275		0,1,4137	yes	missense	RP1L1	NM_178857.5	98	0,16,6096	AA,AG,GG		0.0121,0.3799,0.1309	probably-damaging	11/2401	10480680	16,12208	1974	4138	6112	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10480680G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.32C>T	8.37:g.10480680G>A	ENSP00000371923:p.Pro11Leu					RP1L1_ENST00000329335.3_5'UTR	p.P11L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	255	-			11					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.32C>T	CCDS43708.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	g	22.2	4.256721	0.80246	0.003799	1.21E-4	ENSG00000183638	ENST00000382483	T	0.06528	3.29	4.53	2.5	0.30297	.	.	.	.	.	T	0.16085	0.0387	L	0.44542	1.39	0.24800	N	0.992708	D	0.89917	1.0	D	0.70227	0.968	T	0.05068	-1.0908	9	0.87932	D	0	-12.4659	11.0378	0.47811	0.0:0.0:0.6555:0.3445	.	11	A6NKC6	.	L	11	ENSP00000371923:P11L	ENSP00000371923:P11L	P	-	2	0	RP1L1	10518090	0.641000	0.27251	0.221000	0.23827	0.815000	0.46073	0.842000	0.27627	1.097000	0.41459	0.457000	0.33378	CCG		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			4	118	0	0	0	1	0	4	118				
PTPN14	5784	broad.mit.edu	37	1	214556938	214556938	+	Missense_Mutation	SNP	C	C	T	rs184270548		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214556938C>T	ENST00000366956.5	-	13	2454	c.2260G>A	c.(2260-2262)Ggt>Agt	p.G754S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	754					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTTGGACCGGGGTACTCA	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16017	0.0		0.0	False		,,,				2504	0.0				Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2260-2262)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 14							31.0	36.0	34.0					1																	214556938		2203	4299	6502	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556938C>T	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2260G>A	1.37:g.214556938C>T	ENSP00000355923:p.Gly754Ser					PTPN14_ENST00000543945.1_3'UTR	p.G754S	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2454	-			754					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2260G>A	CCDS1514.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.11	1.839515	0.32513	.	.	ENSG00000152104	ENST00000366956	T	0.67523	-0.27	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72347	-0.4321	10	0.20046	T	0.44	.	14.2334	0.65908	0.0:0.9284:0.0:0.0715	.	754	Q15678	PTN14_HUMAN	S	754	ENSP00000355923:G754S	ENSP00000355923:G754S	G	-	1	0	PTPN14	212623561	1.000000	0.71417	0.080000	0.20451	0.978000	0.69477	7.249000	0.78278	1.371000	0.46172	0.563000	0.77884	GGT		0.667	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		5	94	0	0	0	1	0	5	94				
TRPM3	80036	broad.mit.edu	37	9	73152135	73152135	+	Silent	SNP	C	C	T	rs188521068		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:73152135C>T	ENST00000377111.2	-	25	4101	c.3858G>A	c.(3856-3858)tcG>tcA	p.S1286S	TRPM3_ENST00000408909.2_Silent_p.S1145S|TRPM3_ENST00000396292.4_Silent_p.S1158S|TRPM3_ENST00000423814.3_Silent_p.S1313S|TRPM3_ENST00000357533.2_Silent_p.S1290S|TRPM3_ENST00000358082.3_Silent_p.S1148S|TRPM3_ENST00000396285.1_Silent_p.S1145S|TRPM3_ENST00000377106.1_Silent_p.S1158S|TRPM3_ENST00000377110.3_Silent_p.S1286S|TRPM3_ENST00000377105.1_Silent_p.S1145S|TRPM3_ENST00000360823.2_Silent_p.S1148S|TRPM3_ENST00000396280.5_Silent_p.S1135S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1311					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCAGTCTGACGAGGTCCTCG	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16672	0.001		0.0	False		,,,				2504	0.0					ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(3856-3858)tcG>tcA		transient receptor potential cation channel, subfamily M, member 3							109.0	102.0	104.0					9																	73152135		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73152135C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3858G>A	9.37:g.73152135C>T						TRPM3_ENST00000377105.1_Silent_p.S1145S|TRPM3_ENST00000396285.1_Silent_p.S1145S|TRPM3_ENST00000358082.3_Silent_p.S1148S|TRPM3_ENST00000408909.2_Silent_p.S1145S|TRPM3_ENST00000377111.2_Silent_p.S1286S|TRPM3_ENST00000396280.5_Silent_p.S1135S|TRPM3_ENST00000396292.4_Silent_p.S1158S|TRPM3_ENST00000377106.1_Silent_p.S1158S|TRPM3_ENST00000360823.2_Silent_p.S1148S|TRPM3_ENST00000357533.2_Silent_p.S1290S|TRPM3_ENST00000423814.3_Silent_p.S1313S	p.S1286S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	4101	-			1311					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.3858G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.881	-0.025871	0.07589	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.17	2.22	0.28083	.	.	.	.	.	T	0.56673	0.2001	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47071	-0.9145	4	.	.	.	-22.5499	7.9126	0.29800	0.0618:0.4281:0.3882:0.1219	.	.	.	.	I	1135	.	.	V	-	1	0	TRPM3	72341955	0.505000	0.26131	0.998000	0.56505	0.909000	0.53808	-0.253000	0.08794	0.147000	0.19030	-0.850000	0.03035	GTC		0.612	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		42	92	0	0	0	1	0	42	92				
EP300	2033	broad.mit.edu	37	22	41573944	41573944	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41573944A>G	ENST00000263253.7	+	31	7448	c.6229A>G	c.(6229-6231)Aac>Gac	p.N2077D	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2077	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTTCACGCCAACCCCCAGCT	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6229-6231)Aac>Gac		E1A binding protein p300							74.0	75.0	75.0					22																	41573944		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573944A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6229A>G	22.37:g.41573944A>G	ENSP00000263253:p.Asn2077Asp					RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.N2077D	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	7448	+			2077			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6229A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999519	0.54147	.	.	ENSG00000100393	ENST00000263253	D	0.85411	-1.98	5.0	5.0	0.66597	Nuclear receptor coactivator, CREB-bp-like, interlocking (2);Nuclear receptor coactivator, interlocking (1);	0.000000	0.52532	D	0.000074	D	0.91576	0.7339	M	0.78049	2.395	0.47214	D	0.99935	D	0.69078	0.997	D	0.80764	0.994	D	0.91150	0.4952	10	0.37606	T	0.19	-8.975	14.707	0.69198	1.0:0.0:0.0:0.0	.	2077	Q09472	EP300_HUMAN	D	2077	ENSP00000263253:N2077D	ENSP00000263253:N2077D	N	+	1	0	EP300	39903890	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.195000	0.94971	1.883000	0.54544	0.459000	0.35465	AAC		0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	137	0	0	0	1	0	12	137				
PLD1	5337	broad.mit.edu	37	3	171431771	171431771	+	Missense_Mutation	SNP	C	C	T	rs370939132		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:171431771C>T	ENST00000351298.4	-	9	949	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	PLD1_ENST00000356327.5_Missense_Mutation_p.V275I|PLD1_ENST00000342215.6_Missense_Mutation_p.V275I|PLD1_ENST00000340989.4_Missense_Mutation_p.V275I	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	275	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCAGCAGGACGAAGGCAATG	0.358																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(823-825)Gtc>Atc		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	123.0	127.0	126.0		823,823	5.4	1.0	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PLD1	NM_001130081.2,NM_002662.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	275/1037,275/1075	171431771	1,13005	2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171431771C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.823G>A	3.37:g.171431771C>T	ENSP00000342793:p.Val275Ile					PLD1_ENST00000342215.6_Missense_Mutation_p.V275I|PLD1_ENST00000351298.4_Missense_Mutation_p.V275I|PLD1_ENST00000340989.4_Missense_Mutation_p.V275I	p.V275I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		9	893	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		275			PH.			Missense_Mutation	SNP	ENST00000351298.4	37	c.823G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396646	0.96009	0.0	1.16E-4	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.91635	0.999;0.902	T	0.81642	-0.0840	10	0.52906	T	0.07	-23.4269	18.2205	0.89899	0.0:1.0:0.0:0.0	.	298;275	Q59EA4;Q13393	.;PLD1_HUMAN	I	275	ENSP00000348681:V275I;ENSP00000342793:V275I;ENSP00000339936:V275I;ENSP00000340326:V275I	ENSP00000340326:V275I	V	-	1	0	PLD1	172914465	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.093000	0.76937	2.678000	0.91216	0.563000	0.77884	GTC		0.358	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		17	45	0	0	0	1	0	17	45				
FARSB	10056	broad.mit.edu	37	2	223489482	223489482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:223489482G>A	ENST00000281828.6	-	11	1176	c.913C>T	c.(913-915)Cga>Tga	p.R305*	FARSB_ENST00000536361.1_Nonsense_Mutation_p.R206*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	305	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCTCCTTTCGGTAAGCTAAT	0.328																																						ENST00000281828.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(913-915)Cga>Tga		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						103.0	92.0	96.0					2																	223489482		2203	4299	6502	SO:0001587	stop_gained	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223489482G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.913C>T	2.37:g.223489482G>A	ENSP00000281828:p.Arg305*					FARSB_ENST00000536361.1_Nonsense_Mutation_p.R206*	p.R305*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	11	1176	-		Renal(207;0.0183)	305			B5.		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Nonsense_Mutation	SNP	ENST00000281828.6	37	c.913C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	40	8.063508	0.98635	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.39	4.49	0.54785	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7527	12.151	0.54050	0.0:0.0:0.6784:0.3216	.	.	.	.	X	305;206	.	ENSP00000281828:R305X	R	-	1	2	FARSB	223197726	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.263000	0.43293	1.214000	0.43395	0.650000	0.86243	CGA		0.328	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		7	11	0	0	0	1	0	7	11				
CTC-260E6.6	0	broad.mit.edu	37	19	20370201	20370201	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:20370201G>A	ENST00000593655.1	-	0	199																											CCTTGTGCTAGAGAAACTTGG	0.413																																						ENST00000593655.1																			0																																																			0							g.chr19:20370201G>A																													19.37:g.20370201G>A														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.413	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			11	49	0	0	0	1	0	11	49				
BLVRB	645	broad.mit.edu	37	19	40964125	40964125	+	Missense_Mutation	SNP	C	C	T	rs201096602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40964125C>T	ENST00000263368.4	-	3	422	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	BLVRB_ENST00000595483.1_Missense_Mutation_p.A91T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	91					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	ATGTTCCGGGCGCCCTCGGAC	0.687																																						ENST00000263368.4																			0				large_intestine(3)|lung(3)	6						c.(271-273)Gcc>Acc		biliverdin reductase B (flavin reductase (NADPH))	NADH(DB00157)|Riboflavin(DB00140)	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	45.0	40.0	41.0		271	-0.7	0.8	19		41	0,8600		0,0,4300	yes	missense	BLVRB	NM_000713.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	91/207	40964125	1,13005	2203	4300	6503	SO:0001583	missense	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40964125C>T	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.271G>A	19.37:g.40964125C>T	ENSP00000263368:p.Ala91Thr					BLVRB_ENST00000595483.1_Missense_Mutation_p.A91T	p.A91T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	422	-			91					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Missense_Mutation	SNP	ENST00000263368.4	37	c.271G>A	CCDS33029.1	.	.	.	.	.	.	.	.	.	.	C	6.226	0.409864	0.11812	2.27E-4	0.0	ENSG00000090013	ENST00000263368	T	0.29655	1.56	4.95	-0.665	0.11403	NAD(P)-binding domain (1);NmrA-like (1);	0.278809	0.39210	N	0.001427	T	0.06325	0.0163	N	0.00385	-1.57	0.32964	D	0.521376	B	0.06786	0.001	B	0.06405	0.002	T	0.36625	-0.9740	10	0.10111	T	0.7	-14.5354	8.4204	0.32696	0.0:0.2856:0.0:0.7144	.	91	P30043	BLVRB_HUMAN	T	91	ENSP00000263368:A91T	ENSP00000263368:A91T	A	-	1	0	BLVRB	45655965	0.957000	0.32711	0.804000	0.32291	0.982000	0.71751	1.731000	0.38135	0.080000	0.16959	0.557000	0.71058	GCC		0.687	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			4	24	0	0	0	1	0	4	24				
SYNPO2	171024	broad.mit.edu	37	4	119979079	119979079	+	Missense_Mutation	SNP	G	G	A	rs185497340		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:119979079G>A	ENST00000307142.4	+	5	3972	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGATGGAGACGCCAAACATGA	0.383																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3775-3777)cGc>cAc		synaptopodin 2							54.0	52.0	53.0					4																	119979079		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119979079G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000307142.4:c.3776G>A	4.37:g.119979079G>A	ENSP00000306015:p.Arg1259His					SYNPO2_ENST00000448416.2_3'UTR	p.R1259H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			5	3972	+			0					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000307142.4	37	c.3776G>A	CCDS34054.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901575	0.33535	.	.	ENSG00000172403	ENST00000307142	T	0.10860	2.83	5.76	4.02	0.46733	.	0.572741	0.16954	N	0.192746	T	0.08268	0.0206	L	0.27053	0.805	0.80722	D	1	B;B	0.25206	0.073;0.12	B;B	0.22880	0.019;0.042	T	0.23833	-1.0177	9	.	.	.	-1.7255	11.8972	0.52663	0.1424:0.0:0.8576:0.0	.	1259;1259	B9EG60;Q9UMS6-2	.;.	H	1259	ENSP00000306015:R1259H	.	R	+	2	0	SYNPO2	120198527	0.984000	0.35163	0.998000	0.56505	0.326000	0.28443	1.432000	0.34936	0.787000	0.33731	-0.123000	0.14984	CGC		0.383	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1			15	46	0	0	0	1	0	15	46				
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	C	T	rs374475613		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(484-486)tgC>tgT		ADAMTS-like 1		C	,	0,4406		0,0,2203	103.0	92.0	96.0		486,486	-7.9	0.8	9		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAMTSL1	NM_001040272.5,NM_052866.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	162/1763,162/526	18622252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18622252C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.486C>T	9.37:g.18622252C>T						ADAMTSL1_ENST00000380566.4_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000276935.6_Silent_p.C162C	p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	5	825	+			162					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.486C>T	CCDS47954.1																																																																																				0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			6	68	0	0	0	1	0	6	68				
ACCS	84680	broad.mit.edu	37	11	44098898	44098898	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44098898G>A	ENST00000263776.8	+	7	1060	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	209					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGCAACATCCGGCTGGCCTAT	0.567																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(625-627)cGg>cAg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							163.0	148.0	153.0					11																	44098898		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44098898G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.626G>A	11.37:g.44098898G>A	ENSP00000263776:p.Arg209Gln					ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_3'UTR	p.R209Q	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			7	1060	+			209					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.626G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701178	0.15172	.	.	ENSG00000110455	ENST00000263776	T	0.22945	1.93	4.88	1.94	0.25998	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.330236	0.29198	N	0.012856	T	0.06462	0.0166	N	0.00996	-1.065	0.80722	D	1	B	0.27853	0.191	B	0.20955	0.032	T	0.25012	-1.0144	10	0.13853	T	0.58	-0.8238	7.5434	0.27753	0.4088:0.0:0.5912:0.0	.	209	Q96QU6	1A1L1_HUMAN	Q	209	ENSP00000263776:R209Q	ENSP00000263776:R209Q	R	+	2	0	ACCS	44055474	0.995000	0.38212	0.987000	0.45799	0.071000	0.16799	2.724000	0.47285	0.483000	0.27608	0.557000	0.71058	CGG		0.567	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		55	164	0	0	0	1	0	55	164				
TAOK2	9344	broad.mit.edu	37	16	29996668	29996668	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29996668G>A	ENST00000308893.4	+	14	2600	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	TAOK2_ENST00000416441.2_Silent_p.E346E|TAOK2_ENST00000543033.1_Silent_p.E519E|TAOK2_ENST00000279394.3_Silent_p.E519E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672																																						ENST00000308893.4																			2	Substitution - Missense(2)	p.E519D(2)	lung(2)	breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1555-1557)gaG>gaA		TAO kinase 2							24.0	24.0	24.0					16																	29996668		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996668G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1557G>A	16.37:g.29996668G>A						TAOK2_ENST00000279394.3_Silent_p.E519E|TAOK2_ENST00000416441.2_Silent_p.E346E|TAOK2_ENST00000543033.1_Silent_p.E519E	p.E519E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			14	2600	+			519					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.1557G>A	CCDS10663.1																																																																																				0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		13	29	0	0	0	1	0	13	29				
EPS8L2	64787	broad.mit.edu	37	11	720196	720196	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:720196G>A	ENST00000533256.1	+	6	675	c.300G>A	c.(298-300)tcG>tcA	p.S100S	EPS8L2_ENST00000530636.1_Silent_p.S100S|EPS8L2_ENST00000526198.1_Silent_p.S100S|EPS8L2_ENST00000318562.8_Silent_p.S100S|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	100	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACCAGTCGCTGCGGCTGC	0.662																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(298-300)tcG>tcA		EPS8-like 2							58.0	50.0	53.0					11																	720196		2203	4300	6503	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:720196G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.300G>A	11.37:g.720196G>A						EPS8L2_ENST00000526198.1_Silent_p.S100S|EPS8L2_ENST00000530636.1_Silent_p.S100S|EPS8L2_ENST00000318562.8_Silent_p.S100S|AP006621.9_ENST00000527021.2_RNA	p.S100S			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	675	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	100			PID.		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.300G>A	CCDS31328.1																																																																																				0.662	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	72	0	0	0	1	0	5	72				
SHROOM2	357	broad.mit.edu	37	X	9841702	9841702	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:9841702G>A	ENST00000380913.3	+	2	266	c.176G>A	c.(175-177)gGc>gAc	p.G59D	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	59	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTGAAGAGGGCAGTAAAGCC	0.532											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(175-177)gGc>gAc		shroom family member 2							97.0	86.0	90.0					X																	9841702		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9841702G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.176G>A	X.37:g.9841702G>A	ENSP00000370299:p.Gly59Asp		OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660		p.G59D	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			2	266	+		Hepatocellular(5;0.000888)	59			PDZ.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.176G>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824227	0.50739	.	.	ENSG00000146950	ENST00000380913	T	0.39406	1.08	5.23	4.37	0.52481	PDZ/DHR/GLGF (4);	0.067567	0.56097	D	0.000021	T	0.62441	0.2428	M	0.71581	2.175	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.66011	-0.6029	10	0.87932	D	0	-24.4632	13.2154	0.59856	0.0788:0.0:0.9212:0.0	.	59	Q13796	SHRM2_HUMAN	D	59	ENSP00000370299:G59D	ENSP00000370299:G59D	G	+	2	0	SHROOM2	9801702	1.000000	0.71417	0.245000	0.24217	0.008000	0.06430	9.275000	0.95738	1.011000	0.39340	-0.192000	0.12808	GGC		0.532	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		4	34	0	0	0	1	0	4	34				
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	G	A	rs148070276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(355-357)gaC>gaT		signal peptide, CUB domain, EGF-like 1		G		0,4406		0,0,2203	88.0	62.0	71.0		357	-9.3	0.2	22	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/989	43687179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687179G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.357C>T	22.37:g.43687179G>A						SCUBE1_ENST00000290460.7_Silent_p.D119D	p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	483	-		all_neural(38;0.0414)|Ovarian(80;0.07)	119			EGF-like 3; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.357C>T	CCDS14048.1																																																																																				0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	35	0	0	0	1	0	4	35				
RIMKLA	284716	broad.mit.edu	37	1	42880409	42880409	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:42880409C>A	ENST00000431473.3	+	5	1069	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	314					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GATGGCTGTCCTCCCAGGACT	0.532																																						ENST00000431473.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(940-942)Ctc>Atc		ribosomal modification protein rimK-like family member A							124.0	111.0	115.0					1																	42880409		2203	4300	6503	SO:0001583	missense	284716				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr1:42880409C>A	BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.940C>A	1.37:g.42880409C>A	ENSP00000414330:p.Leu314Ile						p.L314I	NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN			5	1069	+			314					Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	c.940C>A	CCDS466.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095002	0.76870	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	L	0.59436	1.845	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.78443	-0.2202	9	0.72032	D	0.01	-27.2176	16.306	0.82848	0.0:1.0:0.0:0.0	.	314	Q8IXN7	RIMKA_HUMAN	I	314	.	ENSP00000414330:L314I	L	+	1	0	RIMKLA	42652996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.351000	0.79395	2.447000	0.82792	0.561000	0.74099	CTC		0.532	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3	NM_173642		25	95	1	0	1.10923e-09	1	1.14961e-09	25	95				
ZKSCAN2	342357	broad.mit.edu	37	16	25268328	25268328	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:25268328A>G	ENST00000328086.7	-	1	924	c.121T>C	c.(121-123)Tct>Cct	p.S41P		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	41					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGTCTCAGAGCTATCCGAT	0.522											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(121-123)Tct>Cct		zinc finger with KRAB and SCAN domains 2							63.0	68.0	67.0					16																	25268328		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25268328A>G	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.121T>C	16.37:g.25268328A>G	ENSP00000331626:p.Ser41Pro		OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777		p.S41P	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	1	924	-			41					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.121T>C	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815202	0.50527	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.04917	3.53	5.19	2.87	0.33458	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.307026	0.28635	N	0.014652	T	0.04363	0.0120	N	0.17594	0.5	0.09310	N	1	B;P	0.42123	0.073;0.771	B;B	0.42319	0.121;0.383	T	0.41142	-0.9525	10	0.24483	T	0.36	-4.1342	7.4873	0.27441	0.5685:0.0:0.0:0.4315	.	41;41	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	P	41	ENSP00000331626:S41P	ENSP00000331626:S41P	S	-	1	0	ZKSCAN2	25175829	0.022000	0.18835	0.098000	0.21074	0.250000	0.25880	0.179000	0.16840	0.381000	0.24851	0.528000	0.53228	TCT		0.522	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		35	57	0	0	0	1	0	35	57				
CDC42EP1	11135	broad.mit.edu	37	22	37962592	37962592	+	Missense_Mutation	SNP	G	G	A	rs369211517		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37962592G>A	ENST00000249014.4	+	2	656	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		14947	0.0		0.0	False		,,,				2504	0.001					ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(235-237)cGc>cAc		CDC42 effector protein (Rho GTPase binding) 1		G	HIS/ARG	0,4404		0,0,2202	28.0	29.0	28.0		236	4.7	1.0	22		28	1,8593	1.2+/-3.3	0,1,4296	no	missense	CDC42EP1	NM_152243.2	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	79/392	37962592	1,12997	2202	4297	6499	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962592G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.236G>A	22.37:g.37962592G>A	ENSP00000249014:p.Arg79His						p.R79H	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	656	+	Melanoma(58;0.0574)		79					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.236G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728024	0.69074	0.0	1.16E-4	ENSG00000128283	ENST00000249014	T	0.33438	1.41	4.7	4.7	0.59300	.	0.709732	0.12983	N	0.423069	T	0.43787	0.1263	L	0.38175	1.15	0.38075	D	0.936509	D	0.89917	1.0	D	0.81914	0.995	T	0.11275	-1.0594	10	0.24483	T	0.36	-20.6643	13.0073	0.58712	0.0:0.0:1.0:0.0	.	79	Q00587	BORG5_HUMAN	H	79	ENSP00000249014:R79H	ENSP00000249014:R79H	R	+	2	0	CDC42EP1	36292538	0.629000	0.27146	0.959000	0.39883	0.896000	0.52359	2.423000	0.44705	2.429000	0.82318	0.563000	0.77884	CGC		0.706	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		18	36	0	0	0	1	0	18	36				
ZFPM2	23414	broad.mit.edu	37	8	106814359	106814359	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:106814359C>T	ENST00000407775.2	+	8	2299	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	ZFPM2_ENST00000378472.4_Silent_p.D414D|ZFPM2_ENST00000517361.1_Silent_p.D551D|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.D551D|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	683					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGAAAGTGACCCAAATAAGA	0.453																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2047-2049)gaC>gaT		zinc finger protein, FOG family member 2							72.0	69.0	70.0					8																	106814359		1967	4144	6111	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814359C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2049C>T	8.37:g.106814359C>T						ZFPM2_ENST00000520492.1_Silent_p.D551D|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.D551D|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.D414D|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	p.D683D	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2299	+			683					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.2049C>T	CCDS47908.1																																																																																				0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			3	38	0	0	0	1	0	3	38				
ZNF701	55762	broad.mit.edu	37	19	53085961	53085961	+	Missense_Mutation	SNP	C	C	T	rs148286783		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53085961C>T	ENST00000540331.1	+	5	1072	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R217C|ZNF701_ENST00000301093.2_Missense_Mutation_p.R283C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	283					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATCTTTCCAACGTAATGAGAG	0.353																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(847-849)Cgt>Tgt		zinc finger protein 701		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	62.0	61.0		847,649	0.6	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF701	NM_001172655.1,NM_018260.2	180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	283/532,217/466	53085961	2,13004	2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085961C>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.847C>T	19.37:g.53085961C>T	ENSP00000444339:p.Arg283Cys					ZNF701_ENST00000301093.2_Missense_Mutation_p.R283C|ZNF701_ENST00000391785.3_Missense_Mutation_p.R217C|CTD-3099C6.7_ENST00000599222.1_RNA	p.R283C	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1072	+			217					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.847C>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.434173	0.00182	2.27E-4	1.16E-4	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.04083	3.71;3.71;3.71	1.75	0.634	0.17718	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.00005	-3.26	0.09310	N	0.999999	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.45527	-0.9255	9	0.02654	T	1	.	4.8624	0.13590	0.0:0.1858:0.0:0.8142	.	283;217	F5GZM6;Q9NV72	.;ZN701_HUMAN	C	217;283;283	ENSP00000375662:R217C;ENSP00000301093:R283C;ENSP00000444339:R283C	ENSP00000301093:R283C	R	+	1	0	ZNF701	57777773	0.568000	0.26635	0.006000	0.13384	0.002000	0.02628	0.869000	0.27996	-0.012000	0.14223	-0.521000	0.04368	CGT		0.353	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		24	48	0	0	0	1	0	24	48				
NAV1	89796	broad.mit.edu	37	1	201618018	201618018	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:201618018C>T	ENST00000367296.4	+	1	642	c.222C>T	c.(220-222)agC>agT	p.S74S	NAV1_ENST00000295624.6_Silent_p.S74S|NAV1_ENST00000367297.4_Silent_p.S74S|NAV1_ENST00000367302.1_Silent_p.S87S|NAV1_ENST00000367300.3_Silent_p.S74S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	74					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTGGACAGCCGTGTCCCCG	0.667																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(220-222)agC>agT		neuron navigator 1							18.0	22.0	21.0					1																	201618018		2188	4265	6453	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201618018C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.222C>T	1.37:g.201618018C>T						NAV1_ENST00000367297.4_Silent_p.S74S|NAV1_ENST00000367302.1_Silent_p.S87S|NAV1_ENST00000295624.6_Silent_p.S74S|NAV1_ENST00000367300.3_Silent_p.S74S	p.S74S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			1	642	+			74					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.222C>T	CCDS1414.2																																																																																				0.667	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		16	54	0	0	0	1	0	16	54				
CDKL2	8999	broad.mit.edu	37	4	76521466	76521466	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:76521466G>T	ENST00000429927.2	-	10	2084	c.1381C>A	c.(1381-1383)Cca>Aca	p.P461T	CDKL2_ENST00000307465.4_Missense_Mutation_p.P461T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	461					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGCCTGATGGGGAATGTCTG	0.338																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1381-1383)Cca>Aca		cyclin-dependent kinase-like 2 (CDC2-related kinase)							175.0	162.0	166.0					4																	76521466		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76521466G>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1381C>A	4.37:g.76521466G>T	ENSP00000412365:p.Pro461Thr					CDKL2_ENST00000307465.4_Missense_Mutation_p.P461T	p.P461T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		10	2084	-			461					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1381C>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484070	0.44147	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71341	0.39;-0.56	5.2	5.2	0.72013	.	.	.	.	.	T	0.55114	0.1900	N	0.19112	0.55	0.37159	D	0.902508	B;P	0.39809	0.062;0.689	B;B	0.32928	0.021;0.155	T	0.65857	-0.6066	9	0.52906	T	0.07	-4.872	16.126	0.81395	0.0:0.0:1.0:0.0	.	461;461	B4DH08;Q92772	.;CDKL2_HUMAN	T	461	ENSP00000412365:P461T;ENSP00000306340:P461T	ENSP00000306340:P461T	P	-	1	0	CDKL2	76740490	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	3.359000	0.52292	2.854000	0.98071	0.655000	0.94253	CCA		0.338	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		8	39	1	0	2.17888e-05	1	2.23252e-05	8	39				
EXOSC10	5394	broad.mit.edu	37	1	11158106	11158106	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11158106G>A	ENST00000376936.4	-	2	268	c.219C>T	c.(217-219)tgC>tgT	p.C73C	EXOSC10_ENST00000544779.1_Silent_p.C73C|RP4-635E18.6_ENST00000435388.1_RNA|RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.C73C	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	73					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGTGTTTCGCAAAATGCTT	0.428																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(217-219)tgC>tgT		exosome component 10							80.0	74.0	76.0					1																	11158106		2203	4300	6503	SO:0001819	synonymous_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11158106G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.219C>T	1.37:g.11158106G>A						EXOSC10_ENST00000376936.4_Silent_p.C73C|EXOSC10_ENST00000304457.7_Silent_p.C73C	p.C73C			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	2	224	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	73					B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	c.219C>T	CCDS30584.1																																																																																				0.428	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		3	26	0	0	0	1	0	3	26				
DLX4	1748	broad.mit.edu	37	17	48051191	48051191	+	Missense_Mutation	SNP	T	T	C	rs201875580		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48051191T>C	ENST00000240306.3	+	3	902	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	DLX4_ENST00000411890.2_Missense_Mutation_p.S131P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	203				S -> Y (in Ref. 1; AAC50942). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						ACCCCTCCCCTCCCTCTGGGA	0.592																																						ENST00000240306.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						c.(607-609)Tcc>Ccc		distal-less homeobox 4							59.0	63.0	62.0					17																	48051191		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48051191T>C		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.607T>C	17.37:g.48051191T>C	ENSP00000240306:p.Ser203Pro					DLX4_ENST00000411890.2_Missense_Mutation_p.S131P	p.S203P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN			3	902	+			203	S -> Y (in Ref. 1; AAC50942).				D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	c.607T>C	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	T	1.239	-0.621829	0.03636	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.92446	-2.81;-3.04	5.14	0.303	0.15791	.	.	.	.	.	T	0.77751	0.4177	N	0.10945	0.07	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.63292	-0.6670	9	0.02654	T	1	-5.1949	5.7529	0.18156	0.0:0.1607:0.453:0.3863	.	131;203	Q92988-2;Q92988	.;DLX4_HUMAN	P	203;131	ENSP00000240306:S203P;ENSP00000410622:S131P	ENSP00000240306:S203P	S	+	1	0	DLX4	45406190	0.019000	0.18553	0.022000	0.16811	0.891000	0.51852	0.711000	0.25764	-0.146000	0.11274	0.459000	0.35465	TCC		0.592	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			4	105	0	0	0	1	0	4	105				
CCAR2	57805	broad.mit.edu	37	8	22472378	22472378	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22472378G>A	ENST00000308511.4	+	11	1318	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Missense_Mutation_p.A357T|CCAR2_ENST00000520861.1_Missense_Mutation_p.A32T			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	357					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGAAGAGGAGGCAGTGCTGGT	0.587																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(1069-1071)Gca>Aca									52.0	49.0	50.0					8																	22472378		2203	4300	6503	SO:0001583	missense	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22472378G>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1069G>A	8.37:g.22472378G>A	ENSP00000310670:p.Ala357Thr					RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000389279.3_Missense_Mutation_p.A357T|KIAA1967_ENST00000520861.1_Missense_Mutation_p.A32T	p.A357T			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	11	1318	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	357					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.1069G>A	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592564|2.592564	0.46214|0.46214	.|.	.|.	ENSG00000158941|ENSG00000253200	ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599|ENST00000521025	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.282047|0.282047	0.30752|0.30752	N|N	0.008944|0.008944	T|T	0.45377|0.45377	0.1339|0.1339	N|N	0.13098|0.13098	0.295|0.295	0.41034|0.41034	D|D	0.985174|0.985174	B;B|.	0.33807|.	0.013;0.426|.	B;B|.	0.35655|.	0.009;0.207|.	T|T	0.50276|0.50276	-0.8847|-0.8847	10|7	0.23891|0.87932	T|D	0.37|0	-7.9196|-7.9196	12.3238|12.3238	0.54999|0.54999	0.08:0.0:0.92:0.0|0.08:0.0:0.92:0.0	.|.	32;357|.	G3V119;Q8N163|.	.;K1967_HUMAN|.	T|V	357;357;32;175|38	ENSP00000310670:A357T;ENSP00000373930:A357T;ENSP00000429773:A32T;ENSP00000429739:A175T|.	ENSP00000310670:A357T|ENSP00000429254:A38V	A|A	+|-	1|2	0|0	KIAA1967|RP11-582J16.5	22528323|22528323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	6.246000|6.246000	0.72405|0.72405	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|GCC		0.587	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	53	0	0	0	1	0	5	53				
SARAF	51669	broad.mit.edu	37	8	29921408	29921408	+	Missense_Mutation	SNP	C	C	T	rs367575463		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:29921408C>T	ENST00000256255.6	-	6	1273	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	TMEM66_ENST00000536273.1_Missense_Mutation_p.R167Q|TMEM66_ENST00000545648.1_Missense_Mutation_p.R167Q	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		339					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCTACTTTATCGTCTCCTGGT	0.313																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(1015-1017)cGa>cAa		transmembrane protein 66							126.0	127.0	127.0					8																	29921408		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29921408C>T																												ENST00000256255.6:c.1016G>A	8.37:g.29921408C>T	ENSP00000256255:p.Arg339Gln					TMEM66_ENST00000545648.1_Missense_Mutation_p.R167Q|TMEM66_ENST00000536273.1_Missense_Mutation_p.R167Q	p.R339Q	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	6	1273	-			339					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.1016G>A	CCDS6074.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321290	0.81580	.	.	ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.1	4.1	0.47936	.	0.165418	0.50627	D	0.000115	T	0.77618	0.4157	M	0.89478	3.035	0.50171	D	0.999852	D	0.89917	1.0	D	0.81914	0.995	T	0.81497	-0.0906	10	0.87932	D	0	.	12.1299	0.53936	0.0:1.0:0.0:0.0	.	339	Q96BY9	TMM66_HUMAN	Q	339;167;303;167;213	ENSP00000256255:R339Q;ENSP00000441351:R167Q;ENSP00000441723:R167Q;ENSP00000428323:R213Q	ENSP00000256255:R339Q	R	-	2	0	TMEM66	30040950	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.944000	0.49034	2.567000	0.86603	0.655000	0.94253	CGA		0.313	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			21	41	0	0	0	1	0	21	41				
SEMA4C	54910	broad.mit.edu	37	2	97527616	97527616	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97527616C>T	ENST00000305476.5	-	13	1591	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	487	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GAGCGGGAGCCGGCAAAGAGC	0.687																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1459-1461)Ggc>Agc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							11.0	11.0	11.0					2																	97527616		2177	4268	6445	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527616C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1459G>A	2.37:g.97527616C>T	ENSP00000306844:p.Gly487Ser						p.G487S	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			13	1591	-			487			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1459G>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644194	0.87859	.	.	ENSG00000168758	ENST00000305476	T	0.30714	1.52	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.57130	1.785	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.57679	0.825;0.697	T	0.26189	-1.0110	10	0.33940	T	0.23	.	17.0724	0.86578	0.0:1.0:0.0:0.0	.	487;197	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	S	487	ENSP00000306844:G487S	ENSP00000306844:G487S	G	-	1	0	SEMA4C	96891343	1.000000	0.71417	0.960000	0.40013	0.817000	0.46193	7.534000	0.82004	2.562000	0.86427	0.563000	0.77884	GGC		0.687	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		5	27	0	0	0	1	0	5	27				
ACCSL	390110	broad.mit.edu	37	11	44079911	44079911	+	Missense_Mutation	SNP	C	C	T	rs372214310		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44079911C>T	ENST00000378832.1	+	12	1428	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	458					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTACCGGCTCCGGGAAGCTCA	0.463																																						ENST00000378832.1																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						c.(1372-1374)Cgg>Tgg		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like		C	TRP/ARG	3,3851		0,3,1924	101.0	100.0	100.0		1372	0.3	0.1	11		100	0,8264		0,0,4132	no	missense	ACCSL	NM_001031854.2	101	0,3,6056	TT,TC,CC		0.0,0.0778,0.0248	probably-damaging	458/569	44079911	3,12115	1927	4132	6059	SO:0001583	missense	390110						1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44079911C>T		CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1372C>T	11.37:g.44079911C>T	ENSP00000368109:p.Arg458Trp						p.R458W	NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN			12	1428	+			458						Missense_Mutation	SNP	ENST00000378832.1	37	c.1372C>T	CCDS41636.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709713	0.30322	7.78E-4	0.0	ENSG00000205126	ENST00000378832	D	0.90732	-2.72	4.71	0.314	0.15847	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.521065	0.20874	N	0.084104	D	0.87884	0.6290	M	0.78049	2.395	0.09310	N	1	B	0.28419	0.211	B	0.27608	0.081	T	0.81197	-0.1042	10	0.87932	D	0	-0.2954	7.0029	0.24820	0.425:0.4899:0.0:0.0851	.	458	Q4AC99	1A1L2_HUMAN	W	458	ENSP00000368109:R458W	ENSP00000368109:R458W	R	+	1	2	ACCSL	44036487	0.074000	0.21230	0.121000	0.21740	0.006000	0.05464	0.794000	0.26958	0.265000	0.21872	0.655000	0.94253	CGG		0.463	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389717.1	NM_001031854		4	99	0	0	0	1	0	4	99				
CREBL2	1389	broad.mit.edu	37	12	12788823	12788823	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12788823G>A	ENST00000228865.2	+	2	409	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	43	Basic motif. {ECO:0000250}.|bZIP.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGCCGAGCCCGAAAAAAGCTG	0.463																																						ENST00000228865.2																			0				large_intestine(1)	1						c.(127-129)cGa>cAa		cAMP responsive element binding protein-like 2							56.0	59.0	58.0					12																	12788823		2203	4300	6503	SO:0001583	missense	1389				cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12788823G>A	AF039081	CCDS8651.1	12p13.2	2013-01-10			ENSG00000111269	ENSG00000111269		"""basic leucine zipper proteins"""	2350	protein-coding gene	gene with protein product		603476				9693048	Standard	NM_001310		Approved		uc001rap.1	O60519	OTTHUMG00000168704	ENST00000228865.2:c.128G>A	12.37:g.12788823G>A	ENSP00000228865:p.Arg43Gln					CREBL2_ENST00000540224.1_3'UTR	p.R43Q	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0503)	2	409	+		Prostate(47;0.0684)	43					B5BUM5	Missense_Mutation	SNP	ENST00000228865.2	37	c.128G>A	CCDS8651.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859939	0.91433	.	.	ENSG00000111269	ENST00000228865	D	0.94828	-3.53	5.62	5.62	0.85841	Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.96836	0.8967	M	0.64170	1.965	0.46317	D	0.99898	D	0.71674	0.998	D	0.76575	0.988	D	0.97096	0.9794	10	0.87932	D	0	-23.7293	19.646	0.95777	0.0:0.0:1.0:0.0	.	43	O60519	CRBL2_HUMAN	Q	43	ENSP00000228865:R43Q	ENSP00000228865:R43Q	R	+	2	0	CREBL2	12680090	1.000000	0.71417	0.985000	0.45067	0.448000	0.32197	9.368000	0.97152	2.648000	0.89879	0.484000	0.47621	CGA		0.463	CREBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400660.1	NM_001310		13	31	0	0	0	1	0	13	31				
TRAK2	66008	broad.mit.edu	37	2	202245769	202245769	+	Nonsense_Mutation	SNP	G	G	A	rs199659556		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:202245769G>A	ENST00000332624.3	-	16	2670	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	748					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGATGCCTCGCTCTTGTAGA	0.512																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(2242-2244)Cga>Tga		trafficking protein, kinesin binding 2							187.0	183.0	184.0					2																	202245769		2203	4300	6503	SO:0001587	stop_gained	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245769G>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2242C>T	2.37:g.202245769G>A	ENSP00000328875:p.Arg748*						p.R748*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			16	2670	-			748	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	ENST00000332624.3	37	c.2242C>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	41	8.773391	0.98948	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	.	.	.	6.03	3.2	0.36748	.	0.162599	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1361	0.36875	0.1265:0.0:0.7532:0.1202	.	.	.	.	X	748;654	.	ENSP00000328875:R748X	R	-	1	2	TRAK2	201954014	1.000000	0.71417	0.965000	0.40720	0.693000	0.40251	5.595000	0.67563	0.896000	0.36366	0.655000	0.94253	CGA		0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		50	162	0	0	0	1	0	50	162				
NACC1	112939	broad.mit.edu	37	19	13249043	13249043	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13249043C>T	ENST00000292431.4	+	6	1533	c.1407C>T	c.(1405-1407)cgC>cgT	p.R469R	CTC-250I14.3_ENST00000591825.1_RNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	469	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACGCCCGCCGCGTCGTGCGCA	0.607																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(1405-1407)cgC>cgT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							167.0	144.0	152.0					19																	13249043		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13249043C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1407C>T	19.37:g.13249043C>T							p.R469R	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			6	1533	+			469			BEN.			Silent	SNP	ENST00000292431.4	37	c.1407C>T	CCDS12294.1																																																																																				0.607	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		61	158	0	0	0	1	0	61	158				
DHTKD1	55526	broad.mit.edu	37	10	12131158	12131158	+	Silent	SNP	C	C	T	rs576048100		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:12131158C>T	ENST00000263035.4	+	5	953	c.891C>T	c.(889-891)gcC>gcT	p.A297A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	297					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACCCCGTGGCCGTGGGCAAAA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		17266	0.0		0.001	False		,,,				2504	0.0					ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(889-891)gcC>gcT		dehydrogenase E1 and transketolase domain containing 1							84.0	75.0	78.0					10																	12131158		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131158C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.891C>T	10.37:g.12131158C>T						DHTKD1_ENST00000465617.1_Intron	p.A297A	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	953	+		Renal(717;0.228)	297					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.891C>T	CCDS7087.1																																																																																				0.612	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		7	117	0	0	0	1	0	7	117				
ZNF407	55628	broad.mit.edu	37	18	72776115	72776115	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72776115C>T	ENST00000299687.5	+	8	6438	c.6438C>T	c.(6436-6438)atC>atT	p.I2146I		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6436-6438)atC>atT		zinc finger protein 407							29.0	35.0	33.0					18																	72776115		2182	4289	6471	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72776115C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6438C>T	18.37:g.72776115C>T							p.I2146I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	6438	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2146					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.6438C>T	CCDS45885.1																																																																																				0.652	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		9	8	0	0	0	1	0	9	8				
GOLPH3L	55204	broad.mit.edu	37	1	150636167	150636167	+	Missense_Mutation	SNP	G	G	A	rs149790730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150636167G>A	ENST00000271732.3	-	3	300	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	86					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATTCGACCCCGCATGGCCAGC	0.507																																						ENST00000271732.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(256-258)Cgg>Tgg		golgi phosphoprotein 3-like		G	TRP/ARG	0,4406		0,0,2203	92.0	88.0	90.0		256	1.5	1.0	1	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	GOLPH3L	NM_018178.5	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	86/286	150636167	1,13005	2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150636167G>A	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.256C>T	1.37:g.150636167G>A	ENSP00000271732:p.Arg86Trp					GOLPH3L_ENST00000540514.1_Intron	p.R86W	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	300	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		86					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.256C>T	CCDS966.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419164	0.42918	0.0	1.16E-4	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000427665	.	.	.	5.61	1.46	0.22682	.	0.000000	0.64402	D	0.000007	T	0.76147	0.3947	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77643	-0.2511	9	0.87932	D	0	-3.4123	8.4771	0.33021	0.0704:0.0:0.545:0.3845	.	86	Q9H4A5	GLP3L_HUMAN	W	86;108;108	.	ENSP00000271732:R86W	R	-	1	2	GOLPH3L	148902791	1.000000	0.71417	0.996000	0.52242	0.005000	0.04900	0.830000	0.27462	0.015000	0.14971	-0.485000	0.04761	CGG		0.507	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		6	92	0	0	0	1	0	6	92				
TEAD1	7003	broad.mit.edu	37	11	12901217	12901217	+	Missense_Mutation	SNP	G	G	A	rs373835493		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:12901217G>A	ENST00000526600.1	+	1	228	c.5G>A	c.(4-6)cGt>cAt	p.R2H	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361985.2_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTAGCCATGCGTTATGTATTA	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21060	0.0		0.0	False		,,,				2504	0.0					ENST00000526600.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(4-6)cGt>cAt		TEA domain family member 1 (SV40 transcriptional enhancer factor)		G		4,4396	8.1+/-20.4	0,4,2196	70.0	59.0	63.0			-4.7	0.0	11		63	0,8588		0,0,4294	no	intron	TEAD1	NM_021961.5		0,4,6490	AA,AG,GG		0.0,0.0909,0.0308			12901217	4,12984	2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12901217G>A	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.5G>A	11.37:g.12901217G>A	ENSP00000435393:p.Arg2His					TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Intron	p.R2H			P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	1	228	+			0					A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.5G>A		.	.	.	.	.	.	.	.	.	.	G	5.524	0.281706	0.10458	9.09E-4	0.0	ENSG00000187079	ENST00000526600	T	0.56275	0.47	6.06	-4.65	0.03339	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	8	0.87932	D	0	.	9.5656	0.39396	0.4547:0.3648:0.1805:0.0	.	2	E9PKB7	.	H	2	ENSP00000435393:R2H	ENSP00000435393:R2H	R	+	2	0	TEAD1	12857793	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.223000	0.09177	-0.892000	0.03935	-1.202000	0.01658	CGT		0.488	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		31	62	0	0	0	1	0	31	62				
CTBP2	1488	broad.mit.edu	37	10	126714845	126714845	+	Intron	SNP	C	C	T	rs372056793		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:126714845C>T	ENST00000337195.5	-	3	458				CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Missense_Mutation_p.R495H|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGCCACGTTGCGCTCCCTCTT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		13539	0.0		0.0	False		,,,				2504	0.001					ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1483-1485)cGc>cAc		C-terminal binding protein 2		C	HIS/ARG,,	0,4406		0,0,2203	35.0	39.0	37.0		1484,,	5.0	0.9	10		37	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,intron	CTBP2	NM_022802.2,NM_001083914.1,NM_001329.2	29,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,	495/986,,	126714845	1,13005	2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126714845C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+12720G>A	10.37:g.126714845C>T						CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	p.R495H	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	1614	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	55					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.1484G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.316292	0.81469	0.0	1.16E-4	ENSG00000175029	ENST00000309035	D	0.85484	-1.99	5.0	5.0	0.66597	.	0.591975	0.13368	N	0.393173	D	0.92848	0.7725	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92262	0.5818	9	0.56958	D	0.05	.	18.6708	0.91510	0.0:1.0:0.0:0.0	.	495	P56545-2	.	H	495	ENSP00000311825:R495H	ENSP00000311825:R495H	R	-	2	0	CTBP2	126704835	1.000000	0.71417	0.855000	0.33649	0.526000	0.34562	7.523000	0.81856	2.478000	0.83669	0.586000	0.80456	CGC		0.692	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		5	104	0	0	0	1	0	5	104				
PTPN1	5770	broad.mit.edu	37	20	49195732	49195732	+	Missense_Mutation	SNP	G	G	A	rs371730106		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:49195732G>A	ENST00000371621.3	+	7	904	c.730G>A	c.(730-732)Gtt>Att	p.V244I	PTPN1_ENST00000541713.1_Missense_Mutation_p.V171I|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	244	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CCCTTCTTCCGTTGATATCAA	0.488																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(730-732)Gtt>Att		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)	G	ILE/VAL	0,4406		0,0,2203	142.0	143.0	143.0		730	4.7	0.8	20		143	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN1	NM_002827.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	244/436	49195732	1,13005	2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195732G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.730G>A	20.37:g.49195732G>A	ENSP00000360683:p.Val244Ile					PTPN1_ENST00000541713.1_Missense_Mutation_p.V171I	p.V244I	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			7	904	+		Lung NSC(126;0.163)	244			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.730G>A	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591370	0.66219	0.0	1.16E-4	ENSG00000196396	ENST00000371621;ENST00000541713	D;D	0.84146	-1.81;-1.81	5.64	4.69	0.59074	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.56097	D	0.000021	T	0.80618	0.4657	L	0.28115	0.83	0.58432	D	0.999999	P	0.37824	0.609	B	0.43783	0.431	T	0.78130	-0.2324	10	0.30078	T	0.28	.	14.3093	0.66405	0.0712:0.0:0.9288:0.0	.	244	P18031	PTN1_HUMAN	I	244;171	ENSP00000360683:V244I;ENSP00000437732:V171I	ENSP00000360683:V244I	V	+	1	0	PTPN1	48629139	1.000000	0.71417	0.835000	0.33067	0.987000	0.75469	5.621000	0.67743	1.378000	0.46305	0.563000	0.77884	GTT		0.488	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			52	189	0	0	0	1	0	52	189				
ATXN2L	11273	broad.mit.edu	37	16	28843606	28843606	+	Missense_Mutation	SNP	G	G	A	rs150073438		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:28843606G>A	ENST00000336783.4	+	11	1569	c.1402G>A	c.(1402-1404)Ggc>Agc	p.G468S	ATXN2L_ENST00000570200.1_Missense_Mutation_p.G468S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G468S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G468S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G468S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G474S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G468S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	468					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTCCCATCGGCTCGGCAGT	0.592													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17958	0.0		0.0	False		,,,				2504	0.0					ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1402-1404)Ggc>Agc		ataxin 2-like		G	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4393		0,1,2196	61.0	62.0	62.0		1402,1402,1402,1402,1402	5.7	1.0	16	dbSNP_134	62	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	ATXN2L	NM_007245.2,NM_145714.1,NM_148414.1,NM_148415.1,NM_148416.1	56,56,56,56,56	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	468/1076,468/1063,468/1098,468/1045,468/1045	28843606	2,12992	2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28843606G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1402G>A	16.37:g.28843606G>A	ENSP00000338718:p.Gly468Ser					ATXN2L_ENST00000395547.2_Missense_Mutation_p.G468S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G468S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G468S|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G468S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G468S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G474S	p.G468S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			11	1569	+			468					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1402G>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.267896	0.80469	2.28E-4	1.16E-4	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.48522	0.89;0.81;0.85;0.84;0.85	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	L	0.44542	1.39	0.42367	D	0.992433	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.994;0.999;0.987;0.987;0.994;0.994;0.987;0.994	T	0.49173	-0.8967	10	0.06099	T	0.92	-11.5605	11.9422	0.52907	0.0806:0.0:0.9194:0.0	.	468;468;468;468;468;468;468;468	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	468	ENSP00000341459:G468S;ENSP00000378917:G468S;ENSP00000338718:G468S;ENSP00000372133:G468S;ENSP00000315650:G468S	ENSP00000315650:G468S	G	+	1	0	ATXN2L	28751107	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	3.908000	0.56355	2.677000	0.91161	0.491000	0.48974	GGC		0.592	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		27	73	0	0	0	1	0	27	73				
CPN1	1369	broad.mit.edu	37	10	101825108	101825108	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101825108G>A	ENST00000370418.3	-	4	847	c.596C>T	c.(595-597)gCg>gTg	p.A199V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	199	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGATCACCGCCCGGGTCTC	0.577																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(595-597)gCg>gTg		carboxypeptidase N, polypeptide 1							40.0	40.0	40.0					10																	101825108		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101825108G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.596C>T	10.37:g.101825108G>A	ENSP00000359446:p.Ala199Val						p.A199V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	4	847	-		Colorectal(252;0.234)	199			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.596C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952362	0.92660	.	.	ENSG00000120054	ENST00000370418	T	0.16743	2.32	4.62	4.62	0.57501	Peptidase M14, carboxypeptidase A (2);	0.102535	0.64402	D	0.000003	T	0.49864	0.1582	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61078	-0.7135	10	0.72032	D	0.01	-23.412	17.6294	0.88103	0.0:0.0:1.0:0.0	.	199	P15169	CBPN_HUMAN	V	199	ENSP00000359446:A199V	ENSP00000359446:A199V	A	-	2	0	CPN1	101815098	1.000000	0.71417	0.776000	0.31678	0.826000	0.46750	9.465000	0.97660	2.382000	0.81193	0.561000	0.74099	GCG		0.577	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		13	55	0	0	0	1	0	13	55				
MAP3K5	4217	broad.mit.edu	37	6	136913360	136913360	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:136913360G>A	ENST00000359015.4	-	23	3536	c.3176C>T	c.(3175-3177)aCg>aTg	p.T1059M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.T306M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1059					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGGTCTTCCGTCAGGATCCT	0.448																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3175-3177)aCg>aTg		mitogen-activated protein kinase kinase kinase 5							143.0	147.0	146.0					6																	136913360		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913360G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3176C>T	6.37:g.136913360G>A	ENSP00000351908:p.Thr1059Met					MAP3K5_ENST00000355845.4_Missense_Mutation_p.T306M	p.T1059M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	23	3536	-	Colorectal(23;0.24)		1059					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3176C>T	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490652	0.64074	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.71934	-0.48;-0.61	5.69	4.81	0.61882	.	0.046684	0.85682	D	0.000000	T	0.72195	0.3430	L	0.45581	1.43	0.58432	D	0.999998	P;D	0.89917	0.863;1.0	B;D	0.64506	0.411;0.926	T	0.74783	-0.3548	10	0.48119	T	0.1	.	16.0055	0.80359	0.0:0.0:0.8642:0.1357	.	1140;1059	Q59GL6;Q99683	.;M3K5_HUMAN	M	1059;306;1139	ENSP00000351908:T1059M;ENSP00000348104:T306M	ENSP00000348104:T306M	T	-	2	0	MAP3K5	136955053	1.000000	0.71417	0.888000	0.34837	0.977000	0.68977	7.619000	0.83057	1.372000	0.46190	0.591000	0.81541	ACG		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			49	110	0	0	0	1	0	49	110				
DOCK3	1795	broad.mit.edu	37	3	51378749	51378749	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51378749C>T	ENST00000266037.9	+	38	3871	c.3848C>T	c.(3847-3849)tCg>tTg	p.S1283L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1283	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTACCCATCGCAGACAGAG	0.552																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3847-3849)tCg>tTg		dedicator of cytokinesis 3							55.0	59.0	58.0					3																	51378749		2072	4203	6275	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51378749C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3848C>T	3.37:g.51378749C>T	ENSP00000266037:p.Ser1283Leu						p.S1283L	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	38	3871	+			1283			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.3848C>T	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056645	0.55325	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.05258	3.47	6.06	6.06	0.98353	.	0.344316	0.34245	N	0.004134	T	0.07234	0.0183	L	0.40543	1.245	0.44956	D	0.997974	B	0.33238	0.403	B	0.15052	0.012	T	0.37314	-0.9711	10	0.29301	T	0.29	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1283	Q8IZD9	DOCK3_HUMAN	L	1283;79	ENSP00000266037:S1283L	ENSP00000266037:S1283L	S	+	2	0	DOCK3	51353789	0.058000	0.20735	0.992000	0.48379	0.982000	0.71751	3.332000	0.52083	2.882000	0.98803	0.655000	0.94253	TCG		0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	21	0	0	0	1	0	10	21				
SLC5A10	125206	broad.mit.edu	37	17	18874469	18874469	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18874469C>T	ENST00000395645.3	+	8	802	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	FAM83G_ENST00000585154.2_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.P262S|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000317977.6_Missense_Mutation_p.P179S|FAM83G_ENST00000345041.4_3'UTR|SLC5A10_ENST00000417251.2_Missense_Mutation_p.P262S|SLC5A10_ENST00000395642.1_Missense_Mutation_p.P179S|SLC5A10_ENST00000395643.2_Missense_Mutation_p.P235S	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	262					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGGGGACCTGCCGTGGACCGG	0.637																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(535-537)Ccg>Tcg		solute carrier family 5 (sodium/sugar cotransporter), member 10							157.0	106.0	123.0					17																	18874469		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18874469C>T		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.784C>T	17.37:g.18874469C>T	ENSP00000379007:p.Pro262Ser					SLC5A10_ENST00000395643.2_Missense_Mutation_p.P235S|FAM83G_ENST00000345041.4_3'UTR|SLC5A10_ENST00000395645.3_Missense_Mutation_p.P262S|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.P262S|SLC5A10_ENST00000395642.1_Missense_Mutation_p.P179S|SLC5A10_ENST00000417251.2_Missense_Mutation_p.P262S|FAM83G_ENST00000585154.2_3'UTR	p.P179S			A0PJK1	SC5AA_HUMAN			7	1106	+			262					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.535C>T	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461708	0.96240	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.96512	0.9379	10	0.87932	D	0	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	262;235;262;262;179	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	S	179;262;179;262;262;235	ENSP00000324346:P179S;ENSP00000379008:P262S;ENSP00000379004:P179S;ENSP00000401875:P262S;ENSP00000379007:P262S;ENSP00000379005:P235S	ENSP00000324346:P179S	P	+	1	0	SLC5A10	18815194	1.000000	0.71417	0.937000	0.37676	0.969000	0.65631	7.794000	0.85869	2.837000	0.97791	0.655000	0.94253	CCG		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		21	51	0	0	0	1	0	21	51				
OR4C46	119749	broad.mit.edu	37	11	51515877	51515877	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:51515877C>T	ENST00000328188.1	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTCATTGCTGCCAACAGTGGA	0.483																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(595-597)gCc>gTc		olfactory receptor, family 4, subfamily C, member 46							133.0	116.0	121.0					11																	51515877		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515877C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.596C>T	11.37:g.51515877C>T	ENSP00000329056:p.Ala199Val						p.A199V	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	596	+			199						Missense_Mutation	SNP	ENST00000328188.1	37	c.596C>T	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.365220	0.24684	.	.	ENSG00000185926	ENST00000328188	T	0.00031	8.89	2.47	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000361	T	0.00144	0.0004	N	0.25485	0.75	0.25303	N	0.989266	P	0.40476	0.718	P	0.45506	0.483	T	0.33343	-0.9872	10	0.54805	T	0.06	.	5.3229	0.15891	0.0:0.8252:0.0:0.1748	.	199	A6NHA9	O4C46_HUMAN	V	199	ENSP00000329056:A199V	ENSP00000329056:A199V	A	+	2	0	OR4C46	51372453	0.032000	0.19561	0.978000	0.43139	0.038000	0.13279	0.348000	0.20031	0.404000	0.25506	0.121000	0.15741	GCC		0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		8	102	0	0	0	1	0	8	102				
BRAF	673	broad.mit.edu	37	7	140482934	140482934	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:140482934T>C	ENST00000288602.6	-	10	1261	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	401					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GCAGGGGGGGTAGCAGACAAA	0.438		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1201-1203)Acc>Gcc		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						56.0	54.0	55.0					7																	140482934		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140482934T>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1201A>G	7.37:g.140482934T>C	ENSP00000288602:p.Thr401Ala						p.T401A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			10	1261	-	Melanoma(164;0.00956)		401					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1201A>G	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.642296	0.47153	.	.	ENSG00000157764	ENST00000288602	T	0.75938	-0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	L	0.44542	1.39	0.80722	D	1	B	0.21381	0.055	B	0.12156	0.007	T	0.61987	-0.6949	10	0.14656	T	0.56	.	16.1846	0.81942	0.0:0.0:0.0:1.0	.	401	P15056	BRAF_HUMAN	A	401	ENSP00000288602:T401A	ENSP00000288602:T401A	T	-	1	0	BRAF	140129403	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.499000	0.81566	2.229000	0.72834	0.533000	0.62120	ACC		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		14	26	0	0	0	1	0	14	26				
SYT4	6860	broad.mit.edu	37	18	40850401	40850401	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:40850401C>T	ENST00000255224.3	-	4	1551	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	SYT4_ENST00000590752.1_Missense_Mutation_p.A377T|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	395					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTGCTGCTGCACCCAAGACT	0.483																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1183-1185)Gca>Aca		synaptotagmin IV							146.0	143.0	144.0					18																	40850401		2203	4300	6503	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40850401C>T	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1183G>A	18.37:g.40850401C>T	ENSP00000255224:p.Ala395Thr					SYT4_ENST00000590752.1_Missense_Mutation_p.A377T|SYT4_ENST00000586678.1_5'UTR	p.A395T	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			4	1551	-			395					B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.1183G>A	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352521	0.24512	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.71817	-0.6	5.58	3.79	0.43588	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.219063	0.48286	N	0.000192	T	0.53094	0.1775	N	0.25890	0.77	0.32144	N	0.585084	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52215	-0.8605	10	0.22706	T	0.39	.	8.4932	0.33112	0.3884:0.54:0.0:0.0716	.	377;395	B4DEU3;Q9H2B2	.;SYT4_HUMAN	T	395;200	ENSP00000255224:A395T	ENSP00000255224:A395T	A	-	1	0	SYT4	39104399	0.996000	0.38824	0.994000	0.49952	0.766000	0.43426	2.024000	0.41049	0.723000	0.32274	-0.181000	0.13052	GCA		0.483	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		12	220	0	0	0	1	0	12	220				
XKR8	55113	broad.mit.edu	37	1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607																																						ENST00000373884.5																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(310-312)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 8							44.0	43.0	43.0					1																	28290024		2201	4298	6499	SO:0001583	missense	55113					integral to membrane		g.chr1:28290024C>T	AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 8"""			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.310C>T	1.37:g.28290024C>T	ENSP00000362991:p.Arg104Trp						p.R104W	NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)	2	918	+		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	104						Missense_Mutation	SNP	ENST00000373884.5	37	c.310C>T	CCDS315.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615418	0.28801	.	.	ENSG00000158156	ENST00000373884	T	0.64085	-0.08	5.55	3.49	0.39957	.	1.062310	0.07246	N	0.865113	T	0.59595	0.2205	M	0.66939	2.045	0.09310	N	1	B	0.20780	0.048	B	0.17098	0.017	T	0.49322	-0.8952	10	0.38643	T	0.18	.	7.1428	0.25566	0.1641:0.6606:0.0973:0.078	.	104	Q9H6D3	XKR8_HUMAN	W	104	ENSP00000362991:R104W	ENSP00000362991:R104W	R	+	1	2	XKR8	28162611	0.000000	0.05858	0.595000	0.28798	0.874000	0.50279	0.490000	0.22403	1.368000	0.46115	0.650000	0.86243	CGG		0.607	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011175.1	NM_018053		15	63	0	0	0	1	0	15	63				
SMG6	23293	broad.mit.edu	37	17	2196168	2196168	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2196168C>T	ENST00000263073.6	-	5	2305	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	SMG6_ENST00000544865.1_Missense_Mutation_p.R721H	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	752					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGTACCTGCGTGCTTTCCC	0.478																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2161-2163)cGc>cAc		SMG6 nonsense mediated mRNA decay factor							130.0	121.0	124.0					17																	2196168		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2196168C>T	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2255G>A	17.37:g.2196168C>T	ENSP00000263073:p.Arg752His					SMG6_ENST00000263073.5_Missense_Mutation_p.R752H	p.R721H			Q86US8	EST1A_HUMAN			5	2672	-			752					B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.2162G>A	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048000	0.93740	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18657	2.2;2.2	5.26	5.26	0.73747	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54016	-0.8356	10	0.66056	D	0.02	.	18.8613	0.92273	0.0:1.0:0.0:0.0	.	752	Q86US8	EST1A_HUMAN	H	752;721	ENSP00000263073:R752H;ENSP00000443920:R721H	ENSP00000263073:R752H	R	-	2	0	SMG6	2142918	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.770000	0.85390	2.469000	0.83416	0.467000	0.42956	CGC		0.478	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			15	54	0	0	0	1	0	15	54				
TMEM180	79847	broad.mit.edu	37	10	104230506	104230506	+	Silent	SNP	G	G	A	rs188900512	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104230506G>A	ENST00000238936.4	+	5	573	c.336G>A	c.(334-336)tcG>tcA	p.S112S	TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	112						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGGCGCTGTCGTTCCTGGCGT	0.692													G|||	9	0.00179712	0.0023	0.0014	5008	,	,		14114	0.0		0.0	False		,,,				2504	0.0051					ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(334-336)tcG>tcA		transmembrane protein 180							68.0	73.0	71.0					10																	104230506		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104230506G>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.336G>A	10.37:g.104230506G>A						TMEM180_ENST00000366277.2_Intron|TMEM180_ENST00000369931.3_Intron	p.S112S	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	5	573	+		Colorectal(252;0.122)	112					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.336G>A	CCDS7535.1																																																																																				0.692	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		61	134	0	0	0	1	0	61	134				
TBL3	10607	broad.mit.edu	37	16	2025082	2025082	+	Silent	SNP	C	C	T	rs199830238		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2025082C>T	ENST00000568546.1	+	7	746	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	206					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		18137	0.001		0.0	False		,,,				2504	0.0				Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(616-618)gaC>gaT		transducin (beta)-like 3							35.0	36.0	36.0					16																	2025082		2197	4300	6497	SO:0001819	synonymous_variant	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025082C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.618C>T	16.37:g.2025082C>T							p.D206D	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			7	746	+			206					Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	c.618C>T	CCDS10453.1																																																																																				0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		9	60	0	0	0	1	0	9	60				
WDTC1	23038	broad.mit.edu	37	1	27630137	27630137	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27630137C>T	ENST00000319394.3	+	14	2029	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	WDTC1_ENST00000361771.3_Silent_p.G497G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	498					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGGTGGCGGCGCCCCAGTCC	0.592																																						ENST00000319394.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21						c.(1492-1494)ggC>ggT		WD and tetratricopeptide repeats 1							30.0	34.0	33.0					1																	27630137		2201	4292	6493	SO:0001819	synonymous_variant	23038						protein binding	g.chr1:27630137C>T	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1494C>T	1.37:g.27630137C>T						WDTC1_ENST00000361771.3_Silent_p.G497G	p.G498G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	14	2029	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	498					D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	ENST00000319394.3	37	c.1494C>T																																																																																					0.592	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		25	61	0	0	0	1	0	25	61				
JAKMIP3	282973	broad.mit.edu	37	10	133949508	133949508	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:133949508C>T	ENST00000298622.4	+	5	1182	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	348						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTCGGAAGAACGAGGATTTGT	0.493																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(1042-1044)aaC>aaT		Janus kinase and microtubule interacting protein 3							66.0	72.0	70.0					10																	133949508		1948	4129	6077	SO:0001819	synonymous_variant	282973							g.chr10:133949508C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1044C>T	10.37:g.133949508C>T							p.N348N	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1182	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.1044C>T	CCDS44494.1																																																																																				0.493	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		14	25	0	0	0	1	0	14	25				
KIF26B	55083	broad.mit.edu	37	1	245861488	245861488	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:245861488G>A	ENST00000407071.2	+	13	6345	c.5905G>A	c.(5905-5907)Gtc>Atc	p.V1969I	KIF26B_ENST00000366518.4_Missense_Mutation_p.V1588I	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1969					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCACAGGCGTCCGCTGGGT	0.602																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4762-4764)Gtc>Atc		kinesin family member 26B							41.0	44.0	43.0					1																	245861488		1855	4095	5950	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245861488G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5905G>A	1.37:g.245861488G>A	ENSP00000385545:p.Val1969Ile					KIF26B_ENST00000407071.2_Missense_Mutation_p.V1969I	p.V1588I			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		10	4866	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1969					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4762G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	0.427	-0.905232	0.02453	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.77489	-1.1;-1.1	5.68	-1.17	0.09648	.	.	.	.	.	T	0.64821	0.2633	L	0.41027	1.25	0.28435	N	0.917073	B	0.11235	0.004	B	0.04013	0.001	T	0.52593	-0.8555	9	0.31617	T	0.26	.	7.6503	0.28344	0.1871:0.3217:0.4913:0.0	.	1969	Q2KJY2	KI26B_HUMAN	I	1969;1588;1585	ENSP00000385545:V1969I;ENSP00000355475:V1588I	ENSP00000355475:V1588I	V	+	1	0	KIF26B	243928111	0.945000	0.32115	0.349000	0.25694	0.083000	0.17756	1.439000	0.35013	0.061000	0.16311	-0.150000	0.13652	GTC		0.602	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		15	39	0	0	0	1	0	15	39				
TTF1	7270	broad.mit.edu	37	9	135275597	135275597	+	Silent	SNP	G	G	A	rs144643349	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135275597G>A	ENST00000334270.2	-	3	1455	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	472					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCTTATTTCGGAATCTTCAG	0.413													G|||	3	0.000599042	0.0	0.0029	5008	,	,		19594	0.0		0.001	False		,,,				2504	0.0					ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1414-1416)tcC>tcT		transcription termination factor, RNA polymerase I							116.0	112.0	113.0					9																	135275597		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275597G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1416C>T	9.37:g.135275597G>A							p.S472S	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1455	-		Myeloproliferative disorder(178;0.204)	472					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1416C>T	CCDS6948.1																																																																																				0.413	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		17	58	0	0	0	1	0	17	58				
EVA1A	84141	broad.mit.edu	37	2	75745250	75745250	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:75745250C>T	ENST00000233712.1	-	3	454	c.17G>A	c.(16-18)aGc>aAc	p.S6N	EVA1A_ENST00000393913.3_Missense_Mutation_p.S6N|EVA1A_ENST00000410071.1_Missense_Mutation_p.S6N|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000410113.1_Missense_Mutation_p.S6N	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	6	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											TGGGCTGTGGCTGAGGGGCAG	0.567																																						ENST00000233712.1																			0											c.(16-18)aGc>aAc		eva-1 homolog A (C. elegans)							96.0	88.0	91.0					2																	75745250		2203	4300	6503	SO:0001583	missense	84141							g.chr2:75745250C>T	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.17G>A	2.37:g.75745250C>T	ENSP00000233712:p.Ser6Asn					EVA1A_ENST00000393913.3_Missense_Mutation_p.S6N|EVA1A_ENST00000410071.1_Missense_Mutation_p.S6N|EVA1A_ENST00000410113.1_Missense_Mutation_p.S6N|EVA1A_ENST00000490746.1_5'UTR	p.S6N	NM_032181.2	NP_115557.1					3	454	-								D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.17G>A	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126515	0.37533	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.71	0.774	0.18521	.	1.290870	0.04989	N	0.467013	T	0.23133	0.0559	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	10	0.24483	T	0.36	0.7398	3.9258	0.09263	0.0:0.5231:0.1786:0.2983	.	6	Q9H8M9	F176A_HUMAN	N	6	ENSP00000377490:S6N;ENSP00000233712:S6N;ENSP00000386435:S6N;ENSP00000386930:S6N	ENSP00000233712:S6N	S	-	2	0	FAM176A	75598758	0.080000	0.21391	0.009000	0.14445	0.321000	0.28281	-0.114000	0.10757	0.256000	0.21614	0.543000	0.68304	AGC		0.567	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		11	52	0	0	0	1	0	11	52				
SLC26A6	65010	broad.mit.edu	37	3	48670955	48670955	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48670955C>T	ENST00000395550.2	-	2	184	c.137G>A	c.(136-138)cGc>cAc	p.R46H	SLC26A6_ENST00000455886.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R46H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R46H|SLC26A6_ENST00000420764.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000358747.6_Missense_Mutation_p.R25H			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	46					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGCCCCAGCGCCCCAGCTC	0.652																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(73-75)cGc>cAc		solute carrier family 26 (anion exchanger), member 6							69.0	75.0	73.0					3																	48670955		2022	4182	6204	SO:0001583	missense	65010							g.chr3:48670955C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.137G>A	3.37:g.48670955C>T	ENSP00000378920:p.Arg46His					SLC26A6_ENST00000420764.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R46H|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R46H	p.R25H	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	1	324	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.74G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340309	0.41398	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.93019	-2.99;-2.99;-3.1;-3.0;-3.0;-3.15;-2.74;-2.84	4.97	-2.27	0.06846	.	.	.	.	.	D	0.82398	0.5028	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.23058	0.0;0.0;0.0;0.002;0.002;0.079	B;B;B;B;B;B	0.15870	0.0;0.0;0.001;0.001;0.001;0.014	T	0.68243	-0.5460	9	0.30078	T	0.28	.	9.306	0.37876	0.0:0.4034:0.0:0.5966	.	46;46;46;46;46;3440	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	H	46;46;46;46;46;25;46;46;46	ENSP00000404684:R46H;ENSP00000378920:R46H;ENSP00000373239:R46H;ENSP00000337648:R46H;ENSP00000351597:R25H;ENSP00000401066:R46H;ENSP00000401813:R46H;ENSP00000405872:R46H	ENSP00000307089:R46H	R	-	2	0	SLC26A6	48645959	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	-0.672000	0.05244	-0.469000	0.06911	-0.459000	0.05422	CGC		0.652	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		43	98	0	0	0	1	0	43	98				
EYA1	2138	broad.mit.edu	37	8	72211430	72211430	+	Silent	SNP	G	G	A	rs529483320		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:72211430G>A	ENST00000340726.3	-	9	1317	c.678C>T	c.(676-678)taC>taT	p.Y226Y	EYA1_ENST00000388740.3_Silent_p.Y193Y|EYA1_ENST00000388742.4_Silent_p.Y226Y|EYA1_ENST00000388741.2_Silent_p.Y192Y|EYA1_ENST00000419131.1_Silent_p.Y221Y|EYA1_ENST00000388743.2_Silent_p.Y225Y|EYA1_ENST00000303824.7_Silent_p.Y220Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	226					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATACTGTGCGTACTGACCCT	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17584	0.0		0.0	False		,,,				2504	0.0					ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	GRCh37	CM994351	EYA1	M		c.(676-678)taC>taT		eyes absent homolog 1 (Drosophila)							258.0	218.0	232.0					8																	72211430		2203	4300	6503	SO:0001819	synonymous_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211430G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.678C>T	8.37:g.72211430G>A						EYA1_ENST00000388743.2_Silent_p.Y225Y|EYA1_ENST00000303824.7_Silent_p.Y220Y|EYA1_ENST00000388740.3_Silent_p.Y193Y|EYA1_ENST00000419131.1_Silent_p.Y221Y|EYA1_ENST00000388742.4_Silent_p.Y226Y|EYA1_ENST00000388741.2_Silent_p.Y192Y	p.Y226Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1317	-	Breast(64;0.046)		226					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	ENST00000340726.3	37	c.678C>T	CCDS34906.1																																																																																				0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		36	98	0	0	0	1	0	36	98				
TUBA3E	112714	broad.mit.edu	37	2	130949671	130949671	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130949671C>T	ENST00000312988.7	-	5	1186	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	362					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCCGGGGACCACTGTGGGGG	0.592																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1084-1086)gtG>gtA		tubulin, alpha 3e							30.0	32.0	31.0					2																	130949671		2201	4294	6495	SO:0001819	synonymous_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949671C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1086G>A	2.37:g.130949671C>T							p.V362V	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1186	-	Colorectal(110;0.1)		362						Silent	SNP	ENST00000312988.7	37	c.1086G>A	CCDS2158.1																																																																																				0.592	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		30	73	0	0	0	1	0	30	73				
EVX1	2128	broad.mit.edu	37	7	27285737	27285737	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:27285737C>T	ENST00000496902.4	+	3	1403	c.917C>T	c.(916-918)cCg>cTg	p.P306L	EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.P124L|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	306					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCGCTGCGCCCGCTCGACACG	0.761																																						ENST00000496902.4																			0				kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						c.(916-918)cCg>cTg		even-skipped homeobox 1							3.0	4.0	4.0					7																	27285737		1640	3388	5028	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285737C>T		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.917C>T	7.37:g.27285737C>T	ENSP00000419266:p.Pro306Leu					EVX1_ENST00000535619.1_Missense_Mutation_p.P124L|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA	p.P306L			P49640	EVX1_HUMAN			3	1403	+			306					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.917C>T	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993833	0.93167	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.93811	-3.27;-3.29	4.85	4.85	0.62838	.	0.102709	0.64402	D	0.000001	D	0.95746	0.8616	M	0.69823	2.125	0.58432	D	0.999999	D	0.69078	0.997	P	0.59703	0.862	D	0.96370	0.9273	10	0.87932	D	0	-18.5975	17.9649	0.89097	0.0:1.0:0.0:0.0	.	306	P49640	EVX1_HUMAN	L	306;124	ENSP00000419266:P306L;ENSP00000446458:P124L	ENSP00000419266:P306L	P	+	2	0	EVX1	27252262	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.299000	0.78831	2.223000	0.72356	0.462000	0.41574	CCG		0.761	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			5	16	0	0	0	1	0	5	16				
HRASLS	57110	broad.mit.edu	37	3	192973512	192973512	+	Missense_Mutation	SNP	C	C	T	rs367575948	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:192973512C>T	ENST00000602513.1	+	2	482	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	HRASLS_ENST00000264735.2_Missense_Mutation_p.R130C			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	25					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CGAAGTGTTCCGTCCTGGCTA	0.488													C|||	3	0.000599042	0.0	0.0	5008	,	,		16952	0.0		0.0	False		,,,				2504	0.0031					ENST00000264735.2																			0				breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10						c.(388-390)Cgt>Tgt		HRAS-like suppressor		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	197.0	180.0	186.0		73	5.5	1.0	3		186	0,8600		0,0,4300	no	missense	HRASLS	NM_020386.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	25/169	192973512	2,13004	2203	4300	6503	SO:0001583	missense	57110							g.chr3:192973512C>T	AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.73C>T	3.37:g.192973512C>T	ENSP00000473258:p.Arg25Cys					HRASLS_ENST00000602513.1_Missense_Mutation_p.R25C	p.R130C	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)	2	482	+	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		25					D2KX19	Missense_Mutation	SNP	ENST00000602513.1	37	c.388C>T		.	.	.	.	.	.	.	.	.	.	C	23.3	4.395911	0.83011	4.54E-4	0.0	ENSG00000127252	ENST00000264735	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90651	0.4582	9	0.87932	D	0	0.0	18.5869	0.91192	0.0:1.0:0.0:0.0	.	25	Q9HDD0	HRSL1_HUMAN	C	25	.	ENSP00000264735:R25C	R	+	1	0	HRASLS	194456206	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.643000	0.54374	2.868000	0.98415	0.557000	0.71058	CGT		0.488	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				60	132	0	0	0	1	0	60	132				
LIMCH1	22998	broad.mit.edu	37	4	41608016	41608016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:41608016C>T	ENST00000313860.7	+	6	535	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000509638.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.R2*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	161					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.R2*(1)|p.R161*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGCTCAGATGCGAAAGGTAAC	0.428																																						ENST00000313860.7																			2	Substitution - Nonsense(2)	p.R2*(1)|p.R161*(1)	large_intestine(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(481-483)Cga>Tga		LIM and calponin homology domains 1							146.0	125.0	132.0					4																	41608016		2203	4300	6503	SO:0001587	stop_gained	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41608016C>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.481C>T	4.37:g.41608016C>T	ENSP00000316891:p.Arg161*					LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000509638.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.R2*	p.R161*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN			6	535	+			161					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Nonsense_Mutation	SNP	ENST00000313860.7	37	c.481C>T	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159468	0.94686	.	.	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000511424;ENST00000446625;ENST00000503057;ENST00000511496	.	.	.	5.56	1.35	0.21983	.	0.782162	0.11683	N	0.539644	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	14.8368	0.70190	0.5563:0.4437:0.0:0.0	.	.	.	.	X	2;2;161;161;161;161;161;2;2;2;2	.	ENSP00000316891:R161X	R	+	1	2	LIMCH1	41302773	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.605000	0.36815	0.333000	0.23563	-0.262000	0.10625	CGA		0.428	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		18	37	0	0	0	1	0	18	37				
MRPL2	51069	broad.mit.edu	37	6	43024050	43024050	+	Silent	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43024050G>T	ENST00000388752.3	-	3	823	c.399C>A	c.(397-399)ccC>ccA	p.P133P	CUL7_ENST00000265348.3_5'Flank|MRPL2_ENST00000230413.5_Silent_p.P133P|CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	133					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CTTGCCTACAGGGATCATAGC	0.493																																						ENST00000388752.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(397-399)ccC>ccA		mitochondrial ribosomal protein L2							134.0	119.0	124.0					6																	43024050		2203	4300	6503	SO:0001819	synonymous_variant	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43024050G>T	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.399C>A	6.37:g.43024050G>T						MRPL2_ENST00000230413.5_Silent_p.P133P|MRPL2_ENST00000489623.1_Intron	p.P133P	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	3	823	-		Ovarian(999;0.0014)	133					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Silent	SNP	ENST00000388752.3	37	c.399C>A	CCDS34454.1																																																																																				0.493	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			20	62	1	0	0.00121646	1	0.00123356	20	62				
MAGI3	260425	broad.mit.edu	37	1	114226149	114226149	+	Missense_Mutation	SNP	C	C	T	rs372079100		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:114226149C>T	ENST00000307546.9	+	21	4034	c.3959C>T	c.(3958-3960)aCg>aTg	p.T1320M	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1345					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGCTATACGGGCAGTAAT	0.438																																						ENST00000307546.9																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3958-3960)aCg>aTg		membrane associated guanylate kinase, WW and PDZ domain containing 3		C	MET/THR,	1,3135		0,1,1567	136.0	123.0	127.0		3959,	4.8	0.0	1		127	0,7164		0,0,3582	no	missense,utr-3	MAGI3	NM_001142782.1,NM_152900.2	81,	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	possibly-damaging,	1320/1482,	114226149	1,10299	1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226149C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3959C>T	1.37:g.114226149C>T	ENSP00000304604:p.Thr1320Met					MAGI3_ENST00000369615.1_3'UTR	p.T1320M	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4034	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1345					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3959C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150142	0.21371	3.19E-4	0.0	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.55234	0.53	5.75	4.84	0.62591	.	0.603326	0.14422	N	0.320570	T	0.11665	0.0284	N	0.08118	0	0.09310	N	0.999998	P	0.46064	0.872	B	0.35353	0.201	T	0.01688	-1.1295	10	0.44086	T	0.13	-5.9674	5.9117	0.19031	0.1924:0.6546:0.0:0.153	.	1320	Q5TCQ9-4	.	M	1320;360	ENSP00000304604:T1320M	ENSP00000304604:T1320M	T	+	2	0	MAGI3	114027672	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.247000	0.18179	1.452000	0.47756	-0.133000	0.14855	ACG		0.438	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		35	88	0	0	0	1	0	35	88				
CNNM4	26504	broad.mit.edu	37	2	97464908	97464908	+	Missense_Mutation	SNP	G	G	A	rs374698559		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97464908G>A	ENST00000377075.2	+	4	1894	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	CNNM4_ENST00000496186.1_3'UTR|MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000540067.1_Missense_Mutation_p.R86H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	599					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TACTACGCCCGCCATTACCTG	0.567																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1795-1797)cGc>cAc		cyclin M4		G	HIS/ARG	0,4406		0,0,2203	90.0	81.0	84.0		1796	-0.1	0.2	2		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNNM4	NM_020184.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	599/776	97464908	1,13005	2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464908G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1796G>A	2.37:g.97464908G>A	ENSP00000366275:p.Arg599His					CNNM4_ENST00000540067.1_Missense_Mutation_p.R86H|CNNM4_ENST00000496186.1_3'UTR	p.R599H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1894	+			599					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1796G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963427	0.18583	0.0	1.16E-4	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.42513	0.97	5.02	-0.0655	0.13768	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.583162	0.19283	N	0.118113	T	0.17195	0.0413	N	0.05383	-0.06	0.29960	N	0.819505	B;B	0.21905	0.062;0.001	B;B	0.15870	0.014;0.001	T	0.12553	-1.0543	10	0.25751	T	0.34	-7.5395	4.9513	0.14015	0.4745:0.0:0.374:0.1515	.	86;599	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	H	599;86	ENSP00000366275:R599H	ENSP00000366275:R599H	R	+	2	0	CNNM4	96828635	0.000000	0.05858	0.159000	0.22649	0.667000	0.39255	-0.190000	0.09615	-0.247000	0.09597	-0.397000	0.06425	CGC		0.567	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		47	62	0	0	0	1	0	47	62				
TUFT1	7286	broad.mit.edu	37	1	151553473	151553473	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151553473G>A	ENST00000368849.3	+	12	1126	c.1064G>A	c.(1063-1065)gGc>gAc	p.G355D	TUFT1_ENST00000538902.1_Missense_Mutation_p.G374D|TUFT1_ENST00000353024.3_Missense_Mutation_p.G296D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G300D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G330D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	355					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCAGTCATGGCAACTTCAGC	0.527																																						ENST00000368849.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(1063-1065)gGc>gAc		tuftelin 1							76.0	75.0	75.0					1																	151553473		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151553473G>A	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1064G>A	1.37:g.151553473G>A	ENSP00000357842:p.Gly355Asp					TUFT1_ENST00000538902.1_Missense_Mutation_p.G374D|TUFT1_ENST00000353024.3_Missense_Mutation_p.G296D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G300D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G330D	p.G355D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		12	1126	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		355					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.1064G>A	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715306	0.68844	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.22336	2.02;2.09;2.06;2.06;1.96	4.96	4.03	0.46877	.	0.458730	0.23017	N	0.052889	T	0.16300	0.0392	L	0.44542	1.39	0.31455	N	0.670221	D;D;D	0.69078	0.997;0.994;0.973	P;P;P	0.62560	0.904;0.818;0.736	T	0.02813	-1.1107	10	0.14656	T	0.56	-3.6695	11.1643	0.48533	0.0:0.1857:0.8143:0.0	.	374;330;355	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	D	355;300;296;330;374	ENSP00000357842:G355D;ENSP00000376476:G300D;ENSP00000343781:G296D;ENSP00000357841:G330D;ENSP00000437997:G374D	ENSP00000343781:G296D	G	+	2	0	TUFT1	149820097	0.918000	0.31147	0.792000	0.32020	0.913000	0.54294	3.782000	0.55401	1.278000	0.44430	0.655000	0.94253	GGC		0.527	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		26	48	0	0	0	1	0	26	48				
PCDHB5	26167	broad.mit.edu	37	5	140516576	140516576	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140516576C>T	ENST00000231134.5	+	1	1777	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y520Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.701																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.Y520Y(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1558-1560)taC>taT									63.0	66.0	65.0					5																	140516576		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516576C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1560C>T	5.37:g.140516576C>T							p.Y520Y	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			520			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1560C>T	CCDS4247.1																																																																																				0.701	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		11	190	0	0	0	1	0	11	190				
MOSPD3	64598	broad.mit.edu	37	7	100212599	100212599	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100212599G>A	ENST00000393950.2	+	4	903	c.621G>A	c.(619-621)ctG>ctA	p.L207L	MOSPD3_ENST00000424091.2_Silent_p.L197L|MOSPD3_ENST00000223054.4_Silent_p.L207L|MOSPD3_ENST00000379527.2_Silent_p.L207L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	207					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAGCCAGCTGCCTCAAGTCC	0.617																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(619-621)ctG>ctA		motile sperm domain containing 3							99.0	104.0	103.0					7																	100212599		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100212599G>A	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.621G>A	7.37:g.100212599G>A						MOSPD3_ENST00000223054.4_Silent_p.L207L|MOSPD3_ENST00000379527.2_Silent_p.L207L|MOSPD3_ENST00000424091.2_Silent_p.L197L	p.L207L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			4	903	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		207					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.621G>A	CCDS5701.1																																																																																				0.617	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		6	213	0	0	0	1	0	6	213				
DNAH3	55567	broad.mit.edu	37	16	21156620	21156620	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:21156620G>A	ENST00000261383.3	-	3	329	c.330C>T	c.(328-330)atC>atT	p.I110I	DNAH3_ENST00000415178.1_Silent_p.I110I|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	110	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTGTTGGCGATGGAATCAC	0.557																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(328-330)atC>atT		dynein, axonemal, heavy chain 3							177.0	127.0	144.0					16																	21156620		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21156620G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.330C>T	16.37:g.21156620G>A						DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.I110I	p.I110I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	3	329	-			110			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.330C>T	CCDS10594.1																																																																																				0.557	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		3	46	0	0	0	1	0	3	46				
DTNB	1838	broad.mit.edu	37	2	25611102	25611102	+	Silent	SNP	G	G	A	rs200383554	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:25611102G>A	ENST00000406818.3	-	17	1953	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	DTNB_ENST00000405222.1_Silent_p.V531V|DTNB_ENST00000288642.8_Silent_p.V568V|DTNB_ENST00000407661.3_Silent_p.V568V|DTNB_ENST00000496972.2_Silent_p.V504V|DTNB_ENST00000404103.3_Silent_p.V568V|DTNB_ENST00000545439.1_Silent_p.V357V|DTNB_ENST00000407186.1_Silent_p.V531V|DTNB_ENST00000407038.3_Silent_p.V538V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	568						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCTCCCCCGACTCCGCTCA	0.652													G|||	4	0.000798722	0.0008	0.0	5008	,	,		16368	0.0		0.002	False		,,,				2504	0.001					ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1702-1704)gtC>gtT		dystrobrevin, beta		G	,,,,	5,3975		0,5,1985	18.0	22.0	21.0		1704,1704,1614,1704,1593	-3.3	0.5	2		21	42,8304		0,42,4131	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	,,,,	0,47,6116	AA,AG,GG		0.5032,0.1256,0.3813	,,,,	568/628,568/598,538/568,568/610,531/561	25611102	47,12279	1990	4173	6163	SO:0001819	synonymous_variant	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25611102G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1704C>T	2.37:g.25611102G>A						DTNB_ENST00000545439.1_Silent_p.V357V|DTNB_ENST00000496972.2_Silent_p.V504V|DTNB_ENST00000407661.3_Silent_p.V568V|DTNB_ENST00000407038.3_Silent_p.V538V|DTNB_ENST00000288642.8_Silent_p.V568V|DTNB_ENST00000404103.3_Silent_p.V568V|DTNB_ENST00000407186.1_Silent_p.V531V|DTNB_ENST00000405222.1_Silent_p.V531V	p.V568V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			17	1953	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		568					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	c.1704C>T	CCDS46237.1																																																																																				0.652	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		8	19	0	0	0	1	0	8	19				
TRAV3	28690	broad.mit.edu	37	14	22192114	22192114	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:22192114C>T	ENST00000390425.2	+	0	155									T cell receptor alpha variable 3 (gene/pseudogene)																		CAATCCCGCCCGCCGTGAGCT	0.587																																						ENST00000390425.2																			0																				115.0	115.0	115.0					14																	22192114		1935	4126	6061			0							g.chr14:22192114C>T	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192114C>T														0	155	+									RNA	SNP	ENST00000390425.2	37																																																																																						0.587	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		55	115	0	0	0	1	0	55	115				
NFS1	9054	broad.mit.edu	37	20	34262435	34262435	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:34262435G>A	ENST00000374092.4	-	9	1123	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	NFS1_ENST00000540053.1_Splice_Site_p.P149P|NFS1_ENST00000541387.1_Splice_Site_p.P300P|RP1-309K20.6_ENST00000541176.2_Splice_Site_p.P11L|NFS1_ENST00000397425.1_Splice_Site_p.P291P|NFS1_ENST00000374085.1_Splice_Site_p.P291P|NFS1_ENST00000498084.1_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	351					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	AGTCCATACCGGGATAATGGT	0.468																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.e9+1		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						117.0	113.0	114.0					20																	34262435		2203	4300	6503	SO:0001630	splice_region_variant	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262435G>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1054+1C>T	20.37:g.34262435G>A						NFS1_ENST00000374085.1_Splice_Site_p.P291_splice|NFS1_ENST00000397425.1_Splice_Site_p.P291_splice|NFS1_ENST00000541387.1_Splice_Site_p.P300_splice|NFS1_ENST00000540053.1_Splice_Site_p.P149_splice	p.P351_splice	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		9	1123	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		351					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Splice_Site	SNP	ENST00000374092.4	37	c.1054_splice	CCDS13262.1																																																																																				0.468	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100	Silent	22	73	0	0	0	1	0	22	73				
MAP3K15	389840	broad.mit.edu	37	X	19389112	19389112	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:19389112C>T	ENST00000338883.4	-	24	3364	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	MAP3K15_ENST00000359173.3_Missense_Mutation_p.R557Q|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R954Q|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1122							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGCACCGCTCGGCGGATGAT	0.438																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3364-3366)cGa>cAa		mitogen-activated protein kinase kinase kinase 15							64.0	63.0	63.0					X																	19389112		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389112C>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3365G>A	X.37:g.19389112C>T	ENSP00000345629:p.Arg1122Gln					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R954Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R557Q	p.R1122Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			24	3364	-	Hepatocellular(33;0.183)		1122					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.3365G>A		.	.	.	.	.	.	.	.	.	.	C	18.46	3.628198	0.66901	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.72725	-0.62;-0.68;-0.62	5.25	1.51	0.23008	.	0.058021	0.64402	N	0.000001	T	0.73001	0.3531	M	0.73319	2.225	0.47819	D	0.999523	D;D	0.65815	0.992;0.995	P;P	0.51657	0.676;0.564	T	0.69698	-0.5075	10	0.44086	T	0.13	.	9.5323	0.39202	0.0:0.7025:0.0:0.2975	.	597;1122	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	Q	1122;557;954	ENSP00000345629:R1122Q;ENSP00000352093:R557Q;ENSP00000428356:R954Q	ENSP00000345629:R1122Q	R	-	2	0	MAP3K15	19299033	0.980000	0.34600	0.002000	0.10522	0.779000	0.44077	2.432000	0.44784	-0.052000	0.13311	0.556000	0.70494	CGA		0.438	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		6	59	0	0	0	1	0	6	59				
PREX2	80243	broad.mit.edu	37	8	69002947	69002947	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:69002947G>A	ENST00000288368.4	+	20	2524	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	749	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.T749T(2)|p.K750*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTG	0.473																																						ENST00000288368.4																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)	p.T749T(2)|p.K750*(2)	lung(4)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2245-2247)acG>acA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							76.0	64.0	68.0					8																	69002947		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69002947G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2247G>A	8.37:g.69002947G>A						PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	p.T749T	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			20	2524	+			749			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.2247G>A	CCDS6201.1																																																																																				0.473	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		19	43	0	0	0	1	0	19	43				
CNTNAP1	8506	broad.mit.edu	37	17	40849591	40849591	+	Silent	SNP	G	G	A	rs142952244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40849591G>A	ENST00000264638.4	+	22	3805	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1196	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCATTGACCCGGAGATCCAGC	0.577													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15759	0.0		0.001	False		,,,				2504	0.0					ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3586-3588)ccG>ccA		contactin associated protein 1		G		3,4403	6.2+/-15.9	0,3,2200	91.0	87.0	88.0		3588	-11.0	0.0	17	dbSNP_134	88	29,8571	20.4+/-63.3	0,29,4271	no	coding-synonymous	CNTNAP1	NM_003632.2		0,32,6471	AA,AG,GG		0.3372,0.0681,0.246		1196/1385	40849591	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40849591G>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3588G>A	17.37:g.40849591G>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.P1196P	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3805	+		Breast(137;0.000143)	1196			Laminin G-like 4.			Silent	SNP	ENST00000264638.4	37	c.3588G>A	CCDS11436.1																																																																																				0.577	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		28	74	0	0	0	1	0	28	74				
TSPAN11	441631	broad.mit.edu	37	12	31135554	31135554	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:31135554G>A	ENST00000261177.9	+	6	603	c.544G>A	c.(544-546)Gac>Aac	p.D182N	TSPAN11_ENST00000535215.1_Missense_Mutation_p.D111N|TSPAN11_ENST00000546076.1_Missense_Mutation_p.D182N|TSPAN11_ENST00000544427.1_Missense_Mutation_p.D172N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	182						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTGCCCGACAGCTGCTG	0.637																																						ENST00000261177.9																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11						c.(544-546)Gac>Aac		tetraspanin 11							21.0	22.0	22.0					12																	31135554		2199	4299	6498	SO:0001583	missense	441631					integral to membrane		g.chr12:31135554G>A		CCDS31765.1	12p11.21	2013-02-14				ENSG00000110900		"""Tetraspanins"""	30795	protein-coding gene	gene with protein product							Standard	NM_001080509		Approved		uc001rjp.3	A1L157		ENST00000261177.9:c.544G>A	12.37:g.31135554G>A	ENSP00000261177:p.Asp182Asn					TSPAN11_ENST00000546076.1_Missense_Mutation_p.D182N|TSPAN11_ENST00000535215.1_Missense_Mutation_p.D111N|TSPAN11_ENST00000544427.1_Missense_Mutation_p.D172N	p.D182N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN			6	603	+	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		182					A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.544G>A	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543033	0.65198	.	.	ENSG00000110900	ENST00000546076;ENST00000535215;ENST00000544427;ENST00000261177	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.01	4.01	0.46588	Tetraspanin, EC2 domain (1);	0.000000	0.85682	U	0.000000	D	0.91610	0.7349	M	0.77616	2.38	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.70487	0.948;0.969	D	0.89657	0.3874	10	0.13853	T	0.58	.	13.6064	0.62050	0.0:0.0:1.0:0.0	.	172;182	F5H0F0;A1L157	.;TSN11_HUMAN	N	182;111;172;182	ENSP00000437403:D182N;ENSP00000445503:D111N;ENSP00000439895:D172N;ENSP00000261177:D182N	ENSP00000261177:D182N	D	+	1	0	TSPAN11	31026821	1.000000	0.71417	0.988000	0.46212	0.262000	0.26303	9.191000	0.94940	1.752000	0.51891	0.313000	0.20887	GAC		0.637	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		7	23	0	0	0	1	0	7	23				
C7orf26	79034	broad.mit.edu	37	7	6639708	6639708	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6639708G>A	ENST00000344417.5	+	4	1096	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	C7orf26_ENST00000359073.5_Intron|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	277										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGACCCGGGCGTGGGGATGGA	0.552																																						ENST00000344417.5																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11						c.(829-831)Gtg>Atg		chromosome 7 open reading frame 26							60.0	49.0	52.0					7																	6639708		2203	4300	6503	SO:0001583	missense	79034							g.chr7:6639708G>A	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.829G>A	7.37:g.6639708G>A	ENSP00000340220:p.Val277Met					C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	p.V277M	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	4	1096	+		Ovarian(82;0.232)	277					Q9BQ43	Missense_Mutation	SNP	ENST00000344417.5	37	c.829G>A	CCDS5353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.591|2.591	-0.295232|-0.295232	0.05532|0.05532	.|.	.|.	ENSG00000146576|ENSG00000146576	ENST00000445375|ENST00000344417	.|T	.|0.46451	.|0.87	3.6|3.6	-2.37|-2.37	0.06643|0.06643	.|.	.|1.843390	.|0.02979	.|N	.|0.145361	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.17198|0.17198	-1.0377|-1.0377	5|10	.|0.45353	.|T	.|0.12	-0.0072|-0.0072	4.2174|4.2174	0.10540|0.10540	0.4645:0.1781:0.3574:0.0|0.4645:0.1781:0.3574:0.0	.|.	.|277	.|Q96N11	.|CG026_HUMAN	H|M	14|277	.|ENSP00000340220:V277M	.|ENSP00000340220:V277M	R|V	+|+	2|1	0|0	C7orf26|C7orf26	6606233|6606233	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.248000|0.248000	0.25809|0.25809	0.116000|0.116000	0.15561|0.15561	-0.303000|-0.303000	0.08856|0.08856	-0.266000|-0.266000	0.10368|0.10368	CGT|GTG		0.552	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		12	48	0	0	0	1	0	12	48				
MYO3A	53904	broad.mit.edu	37	10	26463097	26463097	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:26463097G>T	ENST00000265944.5	+	30	4070	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1302					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAGCATGGAAAAAGAAAA	0.448																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3904-3906)Gaa>Taa		myosin IIIA							92.0	98.0	96.0					10																	26463097		2203	4300	6503	SO:0001587	stop_gained	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463097G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3904G>T	10.37:g.26463097G>T	ENSP00000265944:p.Glu1302*					MYO3A_ENST00000543632.1_Intron	p.E1302*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	4070	+			1302					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	c.3904G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	38	6.964295	0.97967	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.36	2.1	0.27182	.	0.427727	0.26891	N	0.021969	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.9271	0.24422	0.2134:0.0:0.6497:0.137	.	.	.	.	X	1302	.	ENSP00000265944:E1302X	E	+	1	0	MYO3A	26503103	0.048000	0.20356	0.307000	0.25127	0.076000	0.17211	1.022000	0.30052	1.265000	0.44215	-0.217000	0.12591	GAA		0.448	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		22	92	1	0	1.22574e-08	1	1.26671e-08	22	92				
TRIM48	79097	broad.mit.edu	37	11	55036727	55036727	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:55036727C>T	ENST00000417545.2	+	5	674	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	180						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGAGTGAGTCCGTGCTGCTGC	0.468																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(586-588)tcC>tcT		tripartite motif containing 48							30.0	26.0	28.0					11																	55036727		2081	3940	6021	SO:0001819	synonymous_variant	79097					intracellular	zinc ion binding	g.chr11:55036727C>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.588C>T	11.37:g.55036727C>T							p.S196S	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			5	674	+			180					Q9BUW4	Silent	SNP	ENST00000417545.2	37	c.588C>T	CCDS7947.2																																																																																				0.468	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			16	40	0	0	0	1	0	16	40				
GCAT	23464	broad.mit.edu	37	22	38211829	38211829	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38211829C>T	ENST00000248924.6	+	7	1030	c.974C>T	c.(973-975)gCc>gTc	p.A325V	GCAT_ENST00000323205.6_Missense_Mutation_p.A351V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	325					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	TCTATGGCTGCCAAGACCCAG	0.617																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(1051-1053)gCc>gTc		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						87.0	90.0	89.0					22																	38211829		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211829C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.974C>T	22.37:g.38211829C>T	ENSP00000248924:p.Ala325Val					GCAT_ENST00000248924.6_Missense_Mutation_p.A325V	p.A351V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			7	1115	+	Melanoma(58;0.045)		325					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.1052C>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.326791	0.60743	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.91011	-2.77;-2.77	4.57	4.57	0.56435	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055262	0.64402	D	0.000001	D	0.90314	0.6970	M	0.76170	2.325	0.80722	D	1	B;B	0.25105	0.082;0.118	B;B	0.24701	0.055;0.018	D	0.88512	0.3090	10	0.39692	T	0.17	-19.6133	17.5439	0.87856	0.0:1.0:0.0:0.0	.	351;325	E2QC23;O75600	.;KBL_HUMAN	V	351;325	ENSP00000371110:A351V;ENSP00000248924:A325V	ENSP00000248924:A325V	A	+	2	0	GCAT	36541775	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.081000	0.76844	2.374000	0.81015	0.561000	0.74099	GCC		0.617	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		37	135	0	0	0	1	0	37	135				
SALL3	27164	broad.mit.edu	37	18	76756938	76756938	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:76756938C>T	ENST00000537592.2	+	3	3519	c.3519C>T	c.(3517-3519)ggC>ggT	p.G1173G	SALL3_ENST00000536229.3_Silent_p.G968G|SALL3_ENST00000575389.2_Silent_p.G1101G	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1173					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGACGCGGCCGCCGCCTGT	0.612																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2902-2904)ggC>ggT		spalt-like transcription factor 3							24.0	27.0	26.0					18																	76756938		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76756938C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3519C>T	18.37:g.76756938C>T						SALL3_ENST00000575389.2_Silent_p.G1101G|SALL3_ENST00000537592.2_Silent_p.G1173G	p.G968G			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3613	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1173					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2904C>T	CCDS12013.1																																																																																				0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		11	37	0	0	0	1	0	11	37				
CD81	975	broad.mit.edu	37	11	2416745	2416745	+	Missense_Mutation	SNP	G	G	A	rs538164293		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:2416745G>A	ENST00000263645.5	+	5	710	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Missense_Mutation_p.E81K|CD81_ENST00000381036.3_Missense_Mutation_p.E190K|CD81_ENST00000526072.1_Missense_Mutation_p.E81K|CD81_ENST00000481687.1_Missense_Mutation_p.E158K	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	152					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GACCTTCCACGAGACGGTGCG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		13972	0.0		0.001	False		,,,				2504	0.0					ENST00000263645.5																			0				endometrium(1)|lung(3)|skin(1)	5						c.(454-456)Gag>Aag		CD81 molecule							64.0	61.0	62.0					11																	2416745		2201	4298	6499	SO:0001583	missense	975				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding	g.chr11:2416745G>A		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.454G>A	11.37:g.2416745G>A	ENSP00000263645:p.Glu152Lys					CD81_ENST00000381036.3_Missense_Mutation_p.E190K|CD81_ENST00000526072.1_Missense_Mutation_p.E81K|CD81_ENST00000481687.1_Missense_Mutation_p.E158K|CD81_ENST00000492627.1_Missense_Mutation_p.E81K|CD81_ENST00000524805.1_3'UTR	p.E152K	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)	5	710	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	152					P18582|Q5U0J6	Missense_Mutation	SNP	ENST00000263645.5	37	c.454G>A	CCDS7734.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184139	0.38609	.	.	ENSG00000110651	ENST00000475945;ENST00000263645;ENST00000533417;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687	T;T;D;T;T;T;T;T;T	0.86562	-1.26;-1.26;-2.14;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	3.65	3.65	0.41850	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.118955	0.56097	D	0.000036	T	0.72969	0.3527	N	0.16903	0.455	0.80722	D	1	P;P	0.47545	0.897;0.811	B;B	0.39339	0.297;0.109	T	0.71328	-0.4626	10	0.11485	T	0.65	.	11.05	0.47880	0.0:0.0:1.0:0.0	.	190;152	A6NMH8;P60033	.;CD81_HUMAN	K	81;152;147;81;141;190;145;81;158	ENSP00000433178:E81K;ENSP00000263645:E152K;ENSP00000435633:E147K;ENSP00000437242:E81K;ENSP00000433767:E141K;ENSP00000370424:E190K;ENSP00000432249:E145K;ENSP00000431780:E81K;ENSP00000432033:E158K	ENSP00000263645:E152K	E	+	1	0	CD81	2373321	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	3.620000	0.54203	2.060000	0.61445	0.561000	0.74099	GAG		0.657	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027357.4	NM_004356		19	50	0	0	0	1	0	19	50				
KMT2D	8085	broad.mit.edu	37	12	49432374	49432374	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49432374C>T	ENST00000301067.7	-	34	8764	c.8765G>A	c.(8764-8766)cGg>cAg	p.R2922Q	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2922	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2922Q(1)|p.R2652Q(1)									CGCCAGGCCCCGAAGCCCTTC	0.617																																						ENST00000301067.7																			2	Substitution - Missense(2)	p.R2922Q(1)|p.R2652Q(1)	large_intestine(2)								c.(8764-8766)cGg>cAg		lysine (K)-specific methyltransferase 2D							31.0	36.0	35.0					12																	49432374		1858	4084	5942	SO:0001583	missense	8085							g.chr12:49432374C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8765G>A	12.37:g.49432374C>T	ENSP00000301067:p.Arg2922Gln						p.R2922Q	NM_003482.3	NP_003473.3					34	8764	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.8765G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239869	0.22711	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	5.32	5.32	0.75619	.	0.000000	0.35436	N	0.003206	T	0.63224	0.2493	N	0.22421	0.69	0.22457	N	0.999089	P	0.35628	0.513	B	0.23716	0.048	T	0.64715	-0.6342	10	0.87932	D	0	.	14.899	0.70664	0.0:0.8554:0.1446:0.0	.	2922	O14686	MLL2_HUMAN	Q	2922	ENSP00000301067:R2922Q	ENSP00000301067:R2922Q	R	-	2	0	MLL2	47718641	0.935000	0.31712	0.990000	0.47175	0.806000	0.45545	1.733000	0.38156	2.878000	0.98634	0.650000	0.86243	CGG		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	97	0	0	0	1	0	5	97				
RRP12	23223	broad.mit.edu	37	10	99132912	99132912	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:99132912G>A	ENST00000370992.4	-	18	2183	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P630L|RRP12_ENST00000315563.6_Missense_Mutation_p.P591L|RRP12_ENST00000536831.1_Missense_Mutation_p.P409L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	691						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAGAGGATCGGCAGAAAGTT	0.557																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2071-2073)cCg>cTg		ribosomal RNA processing 12 homolog (S. cerevisiae)							58.0	60.0	60.0					10																	99132912		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99132912G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2072C>T	10.37:g.99132912G>A	ENSP00000360031:p.Pro691Leu					RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.P630L|RRP12_ENST00000536831.1_Missense_Mutation_p.P409L|RRP12_ENST00000315563.6_Missense_Mutation_p.P591L	p.P691L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	18	2183	-		Colorectal(252;0.162)	691					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2072C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917597	0.73098	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	M	0.86178	2.8	0.80722	D	1	D;P;D;D	0.89917	1.0;0.783;1.0;0.999	D;P;D;D	0.74674	0.934;0.454;0.984;0.934	D	0.85269	0.1055	10	0.52906	T	0.07	-11.8855	19.3325	0.94297	0.0:0.0:1.0:0.0	.	630;591;409;691	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	L	691;591;630;409	ENSP00000360031:P691L;ENSP00000324315:P591L;ENSP00000414863:P630L;ENSP00000446184:P409L	ENSP00000324315:P591L	P	-	2	0	RRP12	99122902	1.000000	0.71417	0.987000	0.45799	0.054000	0.15201	9.427000	0.97472	2.571000	0.86741	0.313000	0.20887	CCG		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		13	48	0	0	0	1	0	13	48				
SDC3	9672	broad.mit.edu	37	1	31347383	31347383	+	Missense_Mutation	SNP	G	G	A	rs374473992		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:31347383G>A	ENST00000339394.6	-	4	1097	c.923C>T	c.(922-924)cCg>cTg	p.P308L	SDC3_ENST00000336798.7_Missense_Mutation_p.P250L|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	308					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACTCACCGGAACCTCTGG	0.602																																						ENST00000336798.7																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(748-750)cCg>cTg		syndecan 3		G	LEU/PRO	0,4406		0,0,2203	110.0	112.0	111.0		923	4.8	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDC3	NM_014654.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	308/443	31347383	1,13005	2203	4300	6503	SO:0001583	missense	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347383G>A	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.923C>T	1.37:g.31347383G>A	ENSP00000344468:p.Pro308Leu					SDC3_ENST00000339394.6_Missense_Mutation_p.P308L	p.P250L			O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	2	2241	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	308			Ser/Thr-rich (mucin-like).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	ENST00000339394.6	37	c.749C>T	CCDS30661.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560751	0.86335	0.0	1.16E-4	ENSG00000162512	ENST00000336798;ENST00000339394	T;T	0.49139	1.27;0.79	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000007	T	0.57489	0.2057	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.96;0.98	T	0.62558	-0.6829	10	0.72032	D	0.01	-9.8479	18.1363	0.89620	0.0:0.0:1.0:0.0	.	308;250	O75056;D3DPN2	SDC3_HUMAN;.	L	250;308	ENSP00000338346:P250L;ENSP00000344468:P308L	ENSP00000338346:P250L	P	-	2	0	SDC3	31119970	1.000000	0.71417	0.986000	0.45419	0.897000	0.52465	6.933000	0.75874	2.535000	0.85469	0.563000	0.77884	CCG		0.602	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1	NM_014654		40	101	0	0	0	1	0	40	101				
MUT	4594	broad.mit.edu	37	6	49425735	49425735	+	Missense_Mutation	SNP	G	G	A	rs565348836		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:49425735G>A	ENST00000274813.3	-	3	549	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	141					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGATGTGTCGCCAGATCAAA	0.388																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(421-423)gCg>gTg		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						61.0	61.0	61.0					6																	49425735		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49425735G>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.422C>T	6.37:g.49425735G>A	ENSP00000274813:p.Ala141Val						p.A141V	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			3	549	-	Lung NSC(77;0.0376)		141					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.422C>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956719	0.92726	.	.	ENSG00000146085	ENST00000274813	D	0.99042	-5.36	5.21	5.21	0.72293	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.053759	0.64402	D	0.000001	D	0.99013	0.9663	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99916	1.1224	10	0.87932	D	0	-20.9463	18.0895	0.89469	0.0:0.0:1.0:0.0	.	141	P22033	MUTA_HUMAN	V	141	ENSP00000274813:A141V	ENSP00000274813:A141V	A	-	2	0	MUT	49533694	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.358000	0.97109	2.576000	0.86940	0.491000	0.48974	GCG		0.388	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			22	39	0	0	0	1	0	22	39				
SPATS2L	26010	broad.mit.edu	37	2	201324531	201324531	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201324531T>C	ENST00000358677.5	+	9	1075	c.828T>C	c.(826-828)gaT>gaC	p.D276D	SPATS2L_ENST00000409140.3_Silent_p.D276D|SPATS2L_ENST00000409718.1_Silent_p.D276D|SPATS2L_ENST00000360760.5_Silent_p.D207D|SPATS2L_ENST00000409385.1_Silent_p.D216D|SPATS2L_ENST00000409151.1_Silent_p.D284D|SPATS2L_ENST00000451764.2_Silent_p.D276D|SPATS2L_ENST00000409988.3_Silent_p.D276D|SPATS2L_ENST00000409755.3_Silent_p.D306D	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	276						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAAATGGATAAAGTTAAAG	0.343																																						ENST00000409988.3																			0				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						c.(826-828)gaT>gaC		spermatogenesis associated, serine-rich 2-like							73.0	68.0	70.0					2																	201324531		1817	4071	5888	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201324531T>C	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.828T>C	2.37:g.201324531T>C						SPATS2L_ENST00000409385.1_Silent_p.D216D|SPATS2L_ENST00000409140.3_Silent_p.D276D|SPATS2L_ENST00000409151.1_Silent_p.D284D|SPATS2L_ENST00000451764.2_Silent_p.D276D|SPATS2L_ENST00000360760.5_Silent_p.D207D|SPATS2L_ENST00000409755.3_Silent_p.D306D|SPATS2L_ENST00000358677.4_Silent_p.D276D|SPATS2L_ENST00000409718.1_Silent_p.D276D	p.D276D	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN			9	1351	+			276					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.828T>C	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	T	8.986	0.976607	0.18736	.	.	ENSG00000196141	ENST00000366118	.	.	.	5.49	-2.06	0.07298	.	.	.	.	.	T	0.57548	0.2061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	4	.	.	.	-25.0916	11.7158	0.51653	0.0:0.5502:0.0:0.4498	.	.	.	.	T	59	.	.	I	+	2	0	SPATS2L	201032776	0.991000	0.36638	0.987000	0.45799	0.998000	0.95712	0.005000	0.13129	-0.499000	0.06623	0.459000	0.35465	ATA		0.343	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		4	18	0	0	0	1	0	4	18				
ACADSB	36	broad.mit.edu	37	10	124810572	124810572	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:124810572A>G	ENST00000358776.4	+	9	1012	c.998A>G	c.(997-999)cAa>cGa	p.Q333R	ACADSB_ENST00000368869.4_Missense_Mutation_p.Q231R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	333					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	CAGGGCCTCCAACACCAAGTG	0.453																																						ENST00000358776.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(997-999)cAa>cGa		acyl-CoA dehydrogenase, short/branched chain	L-Isoleucine(DB00167)						37.0	37.0	37.0					10																	124810572		2203	4300	6503	SO:0001583	missense	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124810572A>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.998A>G	10.37:g.124810572A>G	ENSP00000357873:p.Gln333Arg					ACADSB_ENST00000368869.4_Missense_Mutation_p.Q231R	p.Q333R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	9	1012	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	333					B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	ENST00000358776.4	37	c.998A>G	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224561	0.79576	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.95656	-3.77;-3.77	5.04	3.87	0.44632	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.055316	0.64402	D	0.000001	D	0.95771	0.8624	M	0.66439	2.03	0.80722	D	1	P	0.46621	0.881	P	0.52793	0.709	D	0.94778	0.7951	10	0.72032	D	0.01	.	10.9518	0.47334	0.8597:0.0:0.0:0.1403	.	333	P45954	ACDSB_HUMAN	R	231;333	ENSP00000357862:Q231R;ENSP00000357873:Q333R	ENSP00000357873:Q333R	Q	+	2	0	ACADSB	124800562	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.260000	0.95568	0.714000	0.32081	0.528000	0.53228	CAA		0.453	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		4	17	0	0	0	1	0	4	17				
EPHA10	284656	broad.mit.edu	37	1	38197158	38197158	+	Missense_Mutation	SNP	G	G	A	rs145892280		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:38197158G>A	ENST00000373048.4	-	7	1587	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	EPHA10_ENST00000427468.2_Missense_Mutation_p.R530W|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.R25W|EPHA10_ENST00000330210.7_Missense_Mutation_p.R25W	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	530	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCGGCCCGGATCTGAAAG	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15912	0.0		0.0	False		,,,				2504	0.0					ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1588-1590)Cgg>Tgg		EPH receptor A10							90.0	93.0	92.0					1																	38197158		1895	4110	6005	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38197158G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1588C>T	1.37:g.38197158G>A	ENSP00000362139:p.Arg530Trp					EPHA10_ENST00000540011.1_Missense_Mutation_p.R25W|EPHA10_ENST00000330210.7_Missense_Mutation_p.R25W|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R530W	p.R530W	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			7	1587	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	530			Fibronectin type-III 2.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.1588C>T	CCDS41305.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.8	4.954583	0.92726	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000540011;ENST00000373048	T;T;T;T	0.80909	-1.43;0.29;-1.43;0.29	4.77	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39020	N	0.001497	D	0.91078	0.7192	M	0.89163	3.01	0.50467	D	0.999874	D	0.89917	1.0	D	0.97110	1.0	D	0.92798	0.6254	10	0.87932	D	0	.	16.5064	0.84273	0.0:0.0:1.0:0.0	.	530	Q5JZY3	EPHAA_HUMAN	W	25;530;25;530	ENSP00000330379:R25W;ENSP00000397746:R530W;ENSP00000441822:R25W;ENSP00000362139:R530W	ENSP00000330379:R25W	R	-	1	2	EPHA10	37969745	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.759000	0.68785	2.459000	0.83118	0.563000	0.77884	CGG		0.602	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		4	173	0	0	0	1	0	4	173				
SPINT1	6692	broad.mit.edu	37	15	41145959	41145959	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:41145959C>T	ENST00000344051.4	+	5	1027	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R265C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R265C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	265	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTTTCCCACGCTGGTACTA	0.577																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(793-795)Cgc>Tgc		serine peptidase inhibitor, Kunitz type 1							91.0	92.0	92.0					15																	41145959		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145959C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.793C>T	15.37:g.41145959C>T	ENSP00000342098:p.Arg265Cys					SPINT1_ENST00000431806.1_Missense_Mutation_p.R265C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R265C	p.R265C			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	5	1027	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	265			BPTI/Kunitz inhibitor 1.		Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.793C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584250	0.65992	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	T;T	0.63096	-0.02;-0.02	5.4	4.45	0.53987	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	H	0.98918	4.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92046	0.5644	10	0.87932	D	0	-34.854	15.1127	0.72372	0.1423:0.8577:0.0:0.0	.	265;265;265	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	C	265;232;265	ENSP00000342098:R265C;ENSP00000409935:R265C	ENSP00000342098:R265C	R	+	1	0	SPINT1	38933251	1.000000	0.71417	0.999000	0.59377	0.171000	0.22731	5.899000	0.69846	2.536000	0.85505	0.491000	0.48974	CGC		0.577	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		12	171	0	0	0	1	0	12	171				
ITM2C	81618	broad.mit.edu	37	2	231742222	231742222	+	Silent	SNP	C	C	T	rs545228622		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231742222C>T	ENST00000326427.6	+	5	795	c.669C>T	c.(667-669)aaC>aaT	p.N223N	ITM2C_ENST00000326407.6_Silent_p.N186N|ITM2C_ENST00000409704.2_Silent_p.N161N|ITM2C_ENST00000335005.6_Silent_p.N176N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	223	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ACCTGTGCAACGGGAAAGACA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000326427.6																			0				cervix(2)|lung(1)|ovary(1)|skin(1)	5						c.(667-669)aaC>aaT		integral membrane protein 2C							104.0	100.0	101.0					2																	231742222		2203	4300	6503	SO:0001819	synonymous_variant	81618				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding	g.chr2:231742222C>T	AF038953	CCDS2479.1, CCDS33395.1, CCDS33396.1, CCDS74665.1	2q37	2012-10-10			ENSG00000135916	ENSG00000135916		"""BRICHOS domain containing"""	6175	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2C"""	609554				9653160	Standard	NM_030926		Approved	BRI3, E25, hRPC.1050_D_4, ITM3, BRICD2C	uc002vqz.3	Q9NQX7	OTTHUMG00000133219	ENST00000326427.6:c.669C>T	2.37:g.231742222C>T						ITM2C_ENST00000335005.6_Silent_p.N176N|ITM2C_ENST00000409704.2_Silent_p.N161N|ITM2C_ENST00000326407.6_Silent_p.N186N	p.N223N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	5	795	+		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	223			BRICHOS.		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Silent	SNP	ENST00000326427.6	37	c.669C>T	CCDS2479.1																																																																																				0.627	ITM2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256954.2	NM_030926		30	85	0	0	0	1	0	30	85				
HIC1	3090	broad.mit.edu	37	17	1961767	1961767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1961767G>A	ENST00000322941.3	+	2	1840	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	SMG6_ENST00000573166.1_5'Flank|HIC1_ENST00000399849.3_Missense_Mutation_p.A595T	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	614					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GAAGATGCACGCCGTgggggg	0.726																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(1783-1785)Gcc>Acc		hypermethylated in cancer 1							9.0	10.0	9.0					17																	1961767		2091	4157	6248	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1961767G>A		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1840G>A	17.37:g.1961767G>A	ENSP00000314080:p.Ala614Thr					HIC1_ENST00000322941.3_Missense_Mutation_p.A614T	p.A595T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	1943	+			614					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.1783G>A	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556986	0.65425	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.07688	3.17;3.17	4.01	4.01	0.46588	Zinc finger, C2H2 (1);	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.40073	D	0.976041	P	0.37061	0.58	B	0.26310	0.068	T	0.37911	-0.9685	9	0.02654	T	1	.	10.0686	0.42319	0.0955:0.0:0.9045:0.0	.	614	Q14526	HIC1_HUMAN	T	595;614	ENSP00000382742:A595T;ENSP00000314080:A614T	ENSP00000314080:A614T	A	+	1	0	HIC1	1908517	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.315000	0.43752	2.248000	0.74166	0.543000	0.68304	GCC		0.726	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		5	18	0	0	0	1	0	5	18				
CYP2C18	1562	broad.mit.edu	37	10	96495025	96495025	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:96495025C>T	ENST00000285979.6	+	9	1496	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R374W|CYP2C19_ENST00000464755.1_Intron	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	433					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TTCAGGAAAACGGATGTGTAT	0.403																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.(1297-1299)Cgg>Tgg		cytochrome P450, family 2, subfamily C, polypeptide 18							88.0	84.0	85.0					10																	96495025		2203	4300	6503	SO:0001583	missense	1562							g.chr10:96495025C>T	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1297C>T	10.37:g.96495025C>T	ENSP00000285979:p.Arg433Trp					CYP2C18_ENST00000339022.5_Missense_Mutation_p.R374W|CYP2C19_ENST00000464755.1_Intron	p.R433W	NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	9	1496	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.1297C>T	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	c	10.24	1.294719	0.23564	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	D;D	0.84873	-1.91;-1.91	4.09	1.06	0.20224	Cytochrome P450, conserved site (1);	0.074263	0.52532	N	0.000071	D	0.94016	0.8083	H	0.98754	4.32	0.09310	N	0.999998	B;D	0.89917	0.354;1.0	B;D	0.71414	0.115;0.973	D	0.86070	0.1537	10	0.87932	D	0	.	6.5958	0.22672	0.2703:0.6361:0.0:0.0937	.	374;433	Q4VAT5;P33260	.;CP2CI_HUMAN	W	374;433	ENSP00000341293:R374W;ENSP00000285979:R433W	ENSP00000285979:R433W	R	+	1	2	CYP2C18	96485015	0.925000	0.31364	0.125000	0.21846	0.101000	0.19017	0.210000	0.17455	0.015000	0.14971	-0.384000	0.06662	CGG		0.403	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772		18	76	0	0	0	1	0	18	76				
PLXND1	23129	broad.mit.edu	37	3	129275464	129275464	+	Missense_Mutation	SNP	G	G	A	rs375183136		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:129275464G>A	ENST00000324093.4	-	35	5835	c.5657C>T	c.(5656-5658)cCg>cTg	p.P1886L	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.P42L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1886					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCACCTGCGGCCGATACCT	0.542																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(5656-5658)cCg>cTg		plexin D1		G	LEU/PRO	0,4406		0,0,2203	120.0	108.0	112.0		5657	4.9	0.7	3		112	2,8598	2.2+/-6.3	0,2,4298	no	missense	PLXND1	NM_015103.2	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1886/1926	129275464	2,13004	2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129275464G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5657C>T	3.37:g.129275464G>A	ENSP00000317128:p.Pro1886Leu					PLXND1_ENST00000504689.1_Missense_Mutation_p.P42L|PLXND1_ENST00000393239.1_3'UTR	p.P1886L	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN			35	5835	-			1886					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5657C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104620	0.37145	0.0	2.33E-4	ENSG00000004399	ENST00000324093;ENST00000504689	T;T	0.10668	2.85;2.85	4.93	4.93	0.64822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.365819	0.28301	N	0.015855	T	0.05135	0.0137	N	0.02539	-0.55	0.39518	D	0.96847	B;B	0.28026	0.007;0.198	B;B	0.22386	0.007;0.039	T	0.41805	-0.9488	10	0.62326	D	0.03	.	13.9551	0.64142	0.0:0.0:0.8477:0.1523	.	482;1886	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	L	1886;42	ENSP00000317128:P1886L;ENSP00000426162:P42L	ENSP00000317128:P1886L	P	-	2	0	PLXND1	130758154	0.015000	0.18098	0.654000	0.29608	0.609000	0.37215	1.822000	0.39052	2.272000	0.75746	0.462000	0.41574	CCG		0.542	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	22	0	0	0	1	0	7	22				
CTSD	1509	broad.mit.edu	37	11	1780295	1780295	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1780295G>A	ENST00000236671.2	-	4	507	c.375C>T	c.(373-375)agC>agT	p.S125S	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	125					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGACTTGTCGCTGTTGTACT	0.627																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(373-375)agC>agT		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						326.0	271.0	290.0					11																	1780295		2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780295G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.375C>T	11.37:g.1780295G>A							p.S125S	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	4	507	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	125					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.375C>T	CCDS7725.1																																																																																				0.627	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		79	180	0	0	0	1	0	79	180				
A4GALT	53947	broad.mit.edu	37	22	43089741	43089741	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43089741C>T	ENST00000401850.1	-	2	706	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	A4GALT_ENST00000381278.3_Missense_Mutation_p.G73S|A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Missense_Mutation_p.G73S			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	73					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGAGTGGGGCCGTGGGAGGGT	0.622																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(217-219)Ggc>Agc		alpha 1,4-galactosyltransferase							25.0	27.0	26.0					22																	43089741		2203	4298	6501	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089741C>T		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.217G>A	22.37:g.43089741C>T	ENSP00000384794:p.Gly73Ser					A4GALT_ENST00000249005.2_Missense_Mutation_p.G73S|A4GALT_ENST00000381278.3_Missense_Mutation_p.G73S	p.G73S			Q9NPC4	A4GAT_HUMAN			2	706	-			73					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.217G>A	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	5.485	0.274568	0.10403	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.79940	-1.32;-1.32;-1.32	5.1	-9.29	0.00653	.	1.760370	0.04260	N	0.340245	T	0.60327	0.2260	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.50074	-0.8870	10	0.08837	T	0.75	-8.8342	8.4037	0.32601	0.0896:0.5354:0.2591:0.1159	.	73	Q9NPC4	A4GAT_HUMAN	S	73	ENSP00000384794:G73S;ENSP00000249005:G73S;ENSP00000370678:G73S	ENSP00000249005:G73S	G	-	1	0	A4GALT	41419685	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.799000	0.04560	-1.197000	0.02673	-0.459000	0.05422	GGC		0.622	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		14	44	0	0	0	1	0	14	44				
MKI67	4288	broad.mit.edu	37	10	129903178	129903178	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:129903178T>C	ENST00000368654.3	-	13	7301	c.6926A>G	c.(6925-6927)aAg>aGg	p.K2309R	MKI67_ENST00000368653.3_Missense_Mutation_p.K1949R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2309	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCCTGGGCCTTTTCCTTAGG	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6925-6927)aAg>aGg		marker of proliferation Ki-67							194.0	207.0	203.0					10																	129903178		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903178T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6926A>G	10.37:g.129903178T>C	ENSP00000357643:p.Lys2309Arg					MKI67_ENST00000368653.3_Missense_Mutation_p.K1949R	p.K2309R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7301	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2309			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6926A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344470	0.24339	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02631	4.22;4.22	3.6	-2.43	0.06522	.	1.087730	0.07310	N	0.875636	T	0.03915	0.0110	L	0.56769	1.78	0.09310	N	1	B;P;B	0.41546	0.172;0.754;0.4	B;B;B	0.40506	0.058;0.331;0.228	T	0.41680	-0.9495	10	0.21014	T	0.42	.	8.0535	0.30591	0.0:0.3587:0.0:0.6413	.	2308;1949;2309	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	R	2309;1949;2308	ENSP00000357643:K2309R;ENSP00000357642:K1949R	ENSP00000357642:K1949R	K	-	2	0	MKI67	129793168	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.323000	0.19593	-0.756000	0.04703	-0.379000	0.06801	AAG		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		4	347	0	0	0	1	0	4	347				
LCA5	167691	broad.mit.edu	37	6	80223398	80223398	+	Missense_Mutation	SNP	C	C	T	rs572580888		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80223398C>T	ENST00000392959.1	-	4	862	c.251G>A	c.(250-252)cGc>cAc	p.R84H	LCA5_ENST00000369846.4_Missense_Mutation_p.R84H|LCA5_ENST00000467898.3_Missense_Mutation_p.R84H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	84					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.R84H(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTCTGGGAGCGAAATCCCAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17070	0.001		0.0	False		,,,				2504	0.0					ENST00000392959.1																			1	Substitution - Missense(1)	p.R84H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(250-252)cGc>cAc		Leber congenital amaurosis 5							168.0	180.0	176.0					6																	80223398		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223398C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.251G>A	6.37:g.80223398C>T	ENSP00000376686:p.Arg84His					LCA5_ENST00000369846.4_Missense_Mutation_p.R84H|LCA5_ENST00000467898.2_Missense_Mutation_p.R84H	p.R84H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	862	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	84					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.251G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324394	0.81580	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.46063	0.88;0.88	5.77	4.0	0.46444	.	0.053991	0.85682	N	0.000000	T	0.50803	0.1637	M	0.68593	2.085	0.48975	D	0.999733	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57406	-0.7817	10	0.87932	D	0	-1.3587	11.9268	0.52825	0.0:0.8594:0.0:0.1406	.	84;84	B4DRL2;Q86VQ0	.;LCA5_HUMAN	H	84	ENSP00000358861:R84H;ENSP00000376686:R84H	ENSP00000358861:R84H	R	-	2	0	LCA5	80280117	0.988000	0.35896	0.993000	0.49108	0.981000	0.71138	2.801000	0.47908	0.900000	0.36469	0.655000	0.94253	CGC		0.438	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		73	210	0	0	0	1	0	73	210				
GGTLC1	92086	broad.mit.edu	37	20	23966372	23966372	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:23966372C>T	ENST00000335694.4	-	5	667	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.V155M(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGCTCCTCCACGGCCCACTTC	0.612																																						ENST00000335694.4																			2	Substitution - Missense(2)	p.V155M(2)	lung(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(463-465)Gtg>Atg		gamma-glutamyltransferase light chain 1							78.0	81.0	80.0					20																	23966372		2203	4295	6498	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966372C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.463G>A	20.37:g.23966372C>T	ENSP00000337587:p.Val155Met					GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M	p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			5	667	-			155					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.463G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	12.28	1.889480	0.33348	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.10477	2.87;2.87;2.87	0.844	0.844	0.18943	.	0.070075	0.56097	D	0.000030	T	0.17408	0.0418	M	0.85542	2.76	0.35280	D	0.781245	P	0.52692	0.955	P	0.46076	0.503	T	0.22661	-1.0210	10	0.42905	T	0.14	-18.564	7.477	0.27382	0.0:0.9999:0.0:1.0E-4	.	155	Q9BX51	GGTL1_HUMAN	M	155	ENSP00000286890:V155M;ENSP00000278765:V155M;ENSP00000337587:V155M	ENSP00000278765:V155M	V	-	1	0	GGTLC1	23914372	0.994000	0.37717	0.183000	0.23137	0.185000	0.23345	3.462000	0.53042	0.088000	0.17205	0.089000	0.15464	GTG		0.612	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		17	167	0	0	0	1	0	17	167				
LRRC25	126364	broad.mit.edu	37	19	18507627	18507627	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18507627G>A	ENST00000339007.3	-	1	800	c.147C>T	c.(145-147)agC>agT	p.S49S	LRRC25_ENST00000595840.1_Silent_p.S49S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	49						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCAGGCTCAGGCTGAGGCCAC	0.607																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(145-147)agC>agT		leucine rich repeat containing 25							79.0	60.0	67.0					19																	18507627		2203	4300	6503	SO:0001819	synonymous_variant	126364					integral to membrane		g.chr19:18507627G>A	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.147C>T	19.37:g.18507627G>A						LRRC25_ENST00000595840.1_Silent_p.S49S	p.S49S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	800	-			49					Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	c.147C>T	CCDS12377.1																																																																																				0.607	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		14	38	0	0	0	1	0	14	38				
KALRN	8997	broad.mit.edu	37	3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	rs35057827		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124053260G>A	ENST00000240874.3	+	9	1716	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	KALRN_ENST00000360013.3_Missense_Mutation_p.R520Q|KALRN_ENST00000460856.1_Missense_Mutation_p.R520Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	520					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGCGACGGCTGGAGAGC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		19348	0.0		0.001	False		,,,				2504	0.0					ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1558-1560)cGg>cAg		kalirin, RhoGEF kinase		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	56.0	58.0	57.0		1559,1559	4.1	1.0	3	dbSNP_126	57	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	KALRN	NM_001024660.3,NM_003947.4	43,43	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign,benign	520/2987,520/1664	124053260	6,13000	2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053260G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1559G>A	3.37:g.124053260G>A	ENSP00000240874:p.Arg520Gln					KALRN_ENST00000460856.1_Missense_Mutation_p.R520Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R520Q	p.R520Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1686	+			520					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1559G>A	CCDS3027.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	3.111|3.111	-0.182568|-0.182568	0.06340|0.06340	0.0|0.0	6.98E-4|6.98E-4	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	4.97|4.97	4.1|4.1	0.47936|0.47936	.|.	.|0.066271	.|0.64402	.|N	.|0.000011	T|T	0.14356|0.14356	0.0347|0.0347	N|N	0.01048|0.01048	-1.04|-1.04	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.17852	.|0.014;0.023;0.024	.|B;B;B	.|0.13407	.|0.004;0.002;0.009	T|T	0.15809|0.15809	-1.0424|-1.0424	5|10	.|0.06625	.|T	.|0.88	.|.	13.5074|13.5074	0.61491|0.61491	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	rs35057827|rs35057827	.|520;520;520	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|Q	498|520	.|ENSP00000418611:R520Q;ENSP00000240874:R520Q;ENSP00000353109:R520Q	.|ENSP00000240874:R520Q	G|R	+|+	1|2	0|0	KALRN|KALRN	125535950|125535950	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.379000|0.379000	0.30106|0.30106	4.061000|4.061000	0.57485|0.57485	1.454000|1.454000	0.47793|0.47793	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.622	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		31	81	0	0	0	1	0	31	81				
NELFA	7469	broad.mit.edu	37	4	1991465	1991465	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1991465C>T	ENST00000411638.2	-	3	529	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NELFA_ENST00000382882.3_Missense_Mutation_p.A183T|NELFA_ENST00000542778.1_Missense_Mutation_p.A37T	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	172					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A172T(1)									CGCAGCGTGGCGCTCTTGGGT	0.572																																						ENST00000382882.3																			1	Substitution - Missense(1)	p.A172T(1)	large_intestine(1)								c.(547-549)Gcc>Acc		negative elongation factor complex member A							107.0	127.0	120.0					4																	1991465		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1991465C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.514G>A	4.37:g.1991465C>T	ENSP00000399165:p.Ala172Thr					NELFA_ENST00000542778.1_Missense_Mutation_p.A37T|NELFA_ENST00000411638.1_Missense_Mutation_p.A172T	p.A183T	NM_005663.4	NP_005654.3					3	1664	-								A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.547G>A		.	.	.	.	.	.	.	.	.	.	C	37	6.041174	0.97226	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T;T	0.58506	1.48;0.33;0.38;1.48;1.48	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81132	-0.1072	10	0.62326	D	0.03	-25.6591	18.1998	0.89834	0.0:1.0:0.0:0.0	.	172	Q9H3P2	NELFA_HUMAN	T	183;176;37;172;188;102	ENSP00000372335:A183T;ENSP00000387647:A176T;ENSP00000445757:A37T;ENSP00000399165:A172T;ENSP00000395761:A188T	ENSP00000372335:A183T	A	-	1	0	WHSC2	1961263	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.692000	0.84203	2.306000	0.77630	0.609000	0.83330	GCC		0.572	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		78	240	0	0	0	1	0	78	240				
TRPM2	7226	broad.mit.edu	37	21	45786686	45786686	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45786686T>C	ENST00000397928.1	+	4	918	c.473T>C	c.(472-474)aTg>aCg	p.M158T	TRPM2_ENST00000397932.2_Missense_Mutation_p.M158T|TRPM2_ENST00000300482.5_Missense_Mutation_p.M158T|TRPM2_ENST00000300481.9_Missense_Mutation_p.M158T	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	158					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCACCTCATGACCCAGCAC	0.607																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(472-474)aTg>aCg		transient receptor potential cation channel, subfamily M, member 2							71.0	64.0	67.0					21																	45786686		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45786686T>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.473T>C	21.37:g.45786686T>C	ENSP00000381023:p.Met158Thr					TRPM2_ENST00000300481.9_Missense_Mutation_p.M158T|TRPM2_ENST00000300482.5_Missense_Mutation_p.M158T|TRPM2_ENST00000397932.2_Missense_Mutation_p.M158T	p.M158T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			4	918	+			158					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.473T>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592623	0.46214	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	4.12	4.12	0.48240	.	0.122583	0.52532	U	0.000074	T	0.09905	0.0243	M	0.88031	2.925	0.51767	D	0.99993	P;P	0.41041	0.736;0.736	B;B	0.38985	0.287;0.159	T	0.03268	-1.1054	10	0.87932	D	0	-30.6555	13.3937	0.60838	0.0:0.0:0.0:1.0	.	158;158	E9PGK7;O94759	.;TRPM2_HUMAN	T	158	ENSP00000300482:M158T;ENSP00000381023:M158T;ENSP00000300481:M158T;ENSP00000381026:M158T	ENSP00000300481:M158T	M	+	2	0	TRPM2	44611114	1.000000	0.71417	0.997000	0.53966	0.539000	0.34962	7.347000	0.79356	1.621000	0.50320	0.247000	0.18012	ATG		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	92	0	0	0	1	0	4	92				
CCDC180	100499483	broad.mit.edu	37	9	100137845	100137845	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100137845G>A	ENST00000357054.1	+	48	5718	c.4783G>A	c.(4783-4785)Gtg>Atg	p.V1595M	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.V1650M|CCDC180_ENST00000529487.1_Missense_Mutation_p.V1650M|CCDC180_ENST00000395220.1_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1595						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCTGGCGGCCGTGGAAGCCCG	0.597																																						ENST00000375202.2																			0											c.(4948-4950)Gtg>Atg		coiled-coil domain containing 180							102.0	87.0	92.0					9																	100137845		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100137845G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4783G>A	9.37:g.100137845G>A	ENSP00000349562:p.Val1595Met					CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.V1595M|CCDC180_ENST00000529487.1_Missense_Mutation_p.V1650M	p.V1650M							50	6300	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4948G>A		.	.	.	.	.	.	.	.	.	.	G	12.41	1.930103	0.34096	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.12255	2.73;2.7;2.7	5.48	2.59	0.31030	.	0.458180	0.22163	N	0.063759	T	0.29716	0.0742	M	0.68952	2.095	0.58432	D	0.999997	D;D	0.89917	0.991;1.0	P;D	0.85130	0.637;0.997	T	0.01215	-1.1416	10	0.62326	D	0.03	-11.0034	6.2474	0.20827	0.1675:0.1519:0.6806:0.0	.	1789;1595	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	M	1595;1650;1650	ENSP00000349562:V1595M;ENSP00000364348:V1650M;ENSP00000434727:V1650M	ENSP00000349562:V1595M	V	+	1	0	C9orf174	99177666	0.978000	0.34361	0.355000	0.25773	0.047000	0.14425	1.821000	0.39041	0.355000	0.24131	-0.175000	0.13238	GTG		0.597	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		20	58	0	0	0	1	0	20	58				
TTN	7273	broad.mit.edu	37	2	179481223	179481223	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179481223G>A	ENST00000591111.1	-	207	43596	c.43372C>T	c.(43372-43374)Cgg>Tgg	p.R14458W	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7159W|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13531W|TTN_ENST00000342175.6_Missense_Mutation_p.R7226W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16099W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7034W|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14458	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTTTCCGGCTGACTTCT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(48295-48297)Cgg>Tgg		titin							197.0	182.0	186.0					2																	179481223		1944	4152	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481223G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43372C>T	2.37:g.179481223G>A	ENSP00000465570:p.Arg14458Trp					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7159W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7226W|TTN_ENST00000342992.6_Missense_Mutation_p.R13531W|TTN_ENST00000460472.2_Missense_Mutation_p.R7034W|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14458W	p.R16099W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	48519	-			14458			Ig-like 99.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48295C>T		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691795	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.91	5.02	0.67125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72128	0.3422	M	0.75447	2.3	0.50632	D	0.999888	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76255	-0.3026	9	0.87932	D	0	.	14.6874	0.69059	0.0:0.0:0.7363:0.2637	.	7034;7159;7226;14458	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	13531;7034;7226;7159;7034	ENSP00000343764:R13531W;ENSP00000434586:R7034W;ENSP00000340554:R7226W;ENSP00000352154:R7159W	ENSP00000340554:R7226W	R	-	1	2	TTN	179189468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.761000	0.55242	1.474000	0.48178	0.655000	0.94253	CGG		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	149	0	0	0	1	0	5	149				
ADPRHL1	113622	broad.mit.edu	37	13	114083366	114083366	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:114083366C>T	ENST00000375418.3	-	4	633	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	ADPRHL1_ENST00000356501.4_Missense_Mutation_p.A101T	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	183					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCTTGTGCGGCGAACGACACA	0.667																																						ENST00000356501.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11						c.(301-303)Gcc>Acc		ADP-ribosylhydrolase like 1							43.0	39.0	40.0					13																	114083366		2201	4296	6497	SO:0001583	missense	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114083366C>T	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.547G>A	13.37:g.114083366C>T	ENSP00000364567:p.Ala183Thr					ADPRHL1_ENST00000375418.3_Missense_Mutation_p.A183T	p.A101T	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		4	476	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	183					Q5JUG2|Q96GD1	Missense_Mutation	SNP	ENST00000375418.3	37	c.301G>A	CCDS9535.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639337	0.67244	.	.	ENSG00000153531	ENST00000356501;ENST00000375418;ENST00000413169	T;T;T	0.37411	1.2;1.2;1.2	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66446	0.2790	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.73965	-0.3816	10	0.62326	D	0.03	-19.9759	18.4876	0.90835	0.0:1.0:0.0:0.0	.	183	Q8NDY3	ARHL1_HUMAN	T	101;183;101	ENSP00000348894:A101T;ENSP00000364567:A183T;ENSP00000416213:A101T	ENSP00000348894:A101T	A	-	1	0	ADPRHL1	113131367	1.000000	0.71417	0.060000	0.19600	0.057000	0.15508	6.989000	0.76219	2.353000	0.79882	0.462000	0.41574	GCC		0.667	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		3	28	0	0	0	1	0	3	28				
FTMT	94033	broad.mit.edu	37	5	121188336	121188336	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:121188336G>A	ENST00000321339.1	+	1	687	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	226					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTGGCCTGGCGGAGTACCTTT	0.502																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(676-678)gcG>gcA		ferritin mitochondrial																																				SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188336G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.678G>A	5.37:g.121188336G>A							p.A226A	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	687	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	226						Silent	SNP	ENST00000321339.1	37	c.678G>A	CCDS4128.1																																																																																				0.502	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		45	140	0	0	0	1	0	45	140				
AREL1	9870	broad.mit.edu	37	14	75143386	75143386	+	Missense_Mutation	SNP	G	G	A	rs202106130		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75143386G>A	ENST00000356357.4	-	6	1066	c.551C>T	c.(550-552)cCg>cTg	p.P184L	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	184					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAGGGTGTGCGGCTGCCCACA	0.428																																						ENST00000356357.4																			0											c.(550-552)cCg>cTg		apoptosis resistant E3 ubiquitin protein ligase 1		G	LEU/PRO	1,3869		0,1,1934	160.0	152.0	155.0		551	3.4	1.0	14		155	0,8270		0,0,4135	yes	missense	KIAA0317	NM_001039479.1	98	0,1,6069	AA,AG,GG		0.0,0.0258,0.0082	benign	184/824	75143386	1,12139	1935	4135	6070	SO:0001583	missense	9870							g.chr14:75143386G>A	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.551C>T	14.37:g.75143386G>A	ENSP00000348714:p.Pro184Leu					AREL1_ENST00000557401.1_5'UTR	p.P184L	NM_001039479.1	NP_001034568.1					6	1066	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.551C>T	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401944	0.25291	2.58E-4	0.0	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.47177	0.85;0.85	5.42	3.42	0.39159	.	0.104678	0.64402	N	0.000002	T	0.21761	0.0524	N	0.08118	0	0.54753	D	0.99998	B;B	0.25743	0.133;0.003	B;B	0.17433	0.018;0.001	T	0.05666	-1.0871	10	0.12103	T	0.63	.	8.194	0.31385	0.0892:0.0:0.644:0.2668	.	184;184	O15033-2;O15033	.;K0317_HUMAN	L	184;23;23	ENSP00000348714:P184L;ENSP00000452101:P23L	ENSP00000348714:P184L	P	-	2	0	KIAA0317	74213139	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.664000	0.54525	1.291000	0.44653	0.561000	0.74099	CCG		0.428	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		16	70	0	0	0	1	0	16	70				
OPA1	4976	broad.mit.edu	37	3	193377284	193377284	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:193377284T>C	ENST00000392438.3	+	23	2523	c.2289T>C	c.(2287-2289)atT>atC	p.I763I	OPA1_ENST00000361908.3_Silent_p.I800I|OPA1_ENST00000361150.2_Silent_p.I764I|OPA1_ENST00000361715.2_Silent_p.I782I|OPA1_ENST00000361828.2_Silent_p.I781I|OPA1_ENST00000361510.2_Silent_p.I818I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	763					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAATGCAATTGAAAACATGG	0.318																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2452-2454)atT>atC		optic atrophy 1 (autosomal dominant)							46.0	48.0	48.0					3																	193377284		2201	4300	6501	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193377284T>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2289T>C	3.37:g.193377284T>C						OPA1_ENST00000361908.3_Silent_p.I800I|OPA1_ENST00000361150.2_Silent_p.I764I|OPA1_ENST00000392438.3_Silent_p.I763I|OPA1_ENST00000361828.2_Silent_p.I781I|OPA1_ENST00000361715.2_Silent_p.I782I	p.I818I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	25	2688	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		763					D3DNW4	Silent	SNP	ENST00000392438.3	37	c.2454T>C	CCDS43186.1																																																																																				0.318	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		5	11	0	0	0	1	0	5	11				
RDH12	145226	broad.mit.edu	37	14	68191299	68191299	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:68191299G>A	ENST00000551171.1	+	4	502	c.178G>A	c.(178-180)Gct>Act	p.A60T	RDH12_ENST00000539142.1_Missense_Mutation_p.A60T|RDH12_ENST00000267502.3_Missense_Mutation_p.A60T	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	60					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGAGAGCTCGCTAGCCGAGG	0.557																																						ENST00000551171.1																			0				large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12						c.(178-180)Gct>Act		retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						151.0	128.0	136.0					14																	68191299		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68191299G>A	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.178G>A	14.37:g.68191299G>A	ENSP00000449079:p.Ala60Thr					RDH12_ENST00000267502.3_Missense_Mutation_p.A60T|RDH12_ENST00000539142.1_Missense_Mutation_p.A60T	p.A60T	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	502	+			60					B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.178G>A	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226558	0.95173	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89552	-2.53;-2.53;-2.53	5.32	5.32	0.75619	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96326	0.9240	10	0.87932	D	0	.	19.1982	0.93698	0.0:0.0:1.0:0.0	.	60	Q96NR8	RDH12_HUMAN	T	60	ENSP00000449079:A60T;ENSP00000267502:A60T;ENSP00000438715:A60T	ENSP00000267502:A60T	A	+	1	0	RDH12	67261052	1.000000	0.71417	0.987000	0.45799	0.694000	0.40290	9.171000	0.94802	2.773000	0.95371	0.655000	0.94253	GCT		0.557	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			19	61	0	0	0	1	0	19	61				
KMT2C	58508	broad.mit.edu	37	7	151860463	151860463	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:151860463C>T	ENST00000262189.6	-	43	10417	c.10199G>A	c.(10198-10200)cGt>cAt	p.R3400H	KMT2C_ENST00000355193.2_Missense_Mutation_p.R3400H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3400	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACGTTCCTTACGTTCCCGTTC	0.468																																						ENST00000355193.2																			0											c.(10198-10200)cGt>cAt		lysine (K)-specific methyltransferase 2C							207.0	187.0	194.0					7																	151860463		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151860463C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10199G>A	7.37:g.151860463C>T	ENSP00000262189:p.Arg3400His					KMT2C_ENST00000262189.6_Missense_Mutation_p.R3400H	p.R3400H							43	10417	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10199G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058455	0.76074	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84660	-1.88;-1.87	5.28	5.28	0.74379	.	0.000000	0.41294	D	0.000907	D	0.91580	0.7340	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.996;0.999	D	0.92192	0.5760	10	0.72032	D	0.01	.	18.9329	0.92574	0.0:1.0:0.0:0.0	.	3400;2461;3400	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	H	3400	ENSP00000262189:R3400H;ENSP00000347325:R3400H	ENSP00000262189:R3400H	R	-	2	0	MLL3	151491396	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.814000	0.86154	2.465000	0.83290	0.655000	0.94253	CGT		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	243	0	0	0	1	0	5	243				
MUC5B	727897	broad.mit.edu	37	11	1268946	1268946	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1268946C>T	ENST00000529681.1	+	31	10894	c.10836C>T	c.(10834-10836)ccC>ccT	p.P3612P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3615P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3612	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGAGCAGCCCCTGGGCCTCG	0.677																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10843-10845)ccC>ccT		mucin 5B, oligomeric mucus/gel-forming							32.0	35.0	34.0					11																	1268946		1851	4018	5869	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268946C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10836C>T	11.37:g.1268946C>T						MUC5B_ENST00000529681.1_Silent_p.P3612P|RP11-532E4.2_ENST00000532061.2_RNA	p.P3615P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10903	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3612	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10845C>T	CCDS44515.2																																																																																				0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	149	0	0	0	1	0	5	149				
C2orf44	80304	broad.mit.edu	37	2	24262246	24262246	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:24262246C>T	ENST00000295148.4	-	2	176	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40Q	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTGAAGCCGCAAATCAGT	0.507			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)cGg>cAg		chromosome 2 open reading frame 44							121.0	107.0	112.0					2																	24262246		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262246C>T	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.119G>A	2.37:g.24262246C>T	ENSP00000295148:p.Arg40Gln					C2orf44_ENST00000406895.3_Missense_Mutation_p.R40Q	p.R40Q	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	176	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.119G>A	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	C	7.417	0.635953	0.14386	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.38887	3.44;3.44;1.11	5.24	1.23	0.21249	.	0.488094	0.24352	N	0.039266	T	0.08846	0.0219	N	0.00197	-1.87	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	10	0.18276	T	0.48	2.1853	5.8622	0.18754	0.0:0.159:0.1383:0.7027	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	Q	40	ENSP00000295148:R40Q;ENSP00000385816:R40Q;ENSP00000413426:R40Q	ENSP00000295148:R40Q	R	-	2	0	C2orf44	24115750	0.996000	0.38824	0.510000	0.27712	0.425000	0.31504	2.321000	0.43805	0.382000	0.24878	-0.294000	0.09567	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		16	62	0	0	0	1	0	16	62				
FAM196A	642938	broad.mit.edu	37	10	128973691	128973691	+	Silent	SNP	C	C	T	rs139302074	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:128973691C>T	ENST00000522781.1	-	4	1524	c.969G>A	c.(967-969)tcG>tcA	p.S323S	FAM196A_ENST00000424811.2_Silent_p.S323S|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16306	0.0		0.0	False		,,,				2504	0.0					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(967-969)tcG>tcA		family with sequence similarity 196, member A		C	,	5,4401	8.1+/-20.4	0,5,2198	73.0	77.0	76.0		969,	-0.7	0.0	10	dbSNP_134	76	0,8598		0,0,4299	no	coding-synonymous,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	,	0,5,6497	TT,TC,CC		0.0,0.1135,0.0384	,	323/480,	128973691	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	642938							g.chr10:128973691C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.969G>A	10.37:g.128973691C>T						DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.S323S	p.S323S	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1524	-			323					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.969G>A	CCDS31312.1																																																																																				0.642	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		53	130	0	0	0	1	0	53	130				
ZNF366	167465	broad.mit.edu	37	5	71756273	71756273	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71756273C>T	ENST00000318442.5	-	2	1541	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	351					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCTTGAGCTCGCTGGGGTAG	0.647																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1051-1053)Gag>Aag		zinc finger protein 366							54.0	50.0	51.0					5																	71756273		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756273C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1051G>A	5.37:g.71756273C>T	ENSP00000313158:p.Glu351Lys						p.E351K	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1541	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	351					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1051G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939170	0.92526	.	.	ENSG00000178175	ENST00000318442	T	0.07444	3.19	5.8	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.174659	0.40222	N	0.001149	T	0.04770	0.0129	N	0.08118	0	0.58432	D	0.999999	P	0.51351	0.944	B	0.40199	0.322	T	0.54781	-0.8242	10	0.18710	T	0.47	-47.0493	14.8274	0.70122	0.0:0.9311:0.0:0.0689	.	351	Q8N895	ZN366_HUMAN	K	351	ENSP00000313158:E351K	ENSP00000313158:E351K	E	-	1	0	ZNF366	71792029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	1.461000	0.47929	0.561000	0.74099	GAG		0.647	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			11	43	0	0	0	1	0	11	43				
CTC1	80169	broad.mit.edu	37	17	8132064	8132064	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8132064C>A	ENST00000315684.8	-	21	3375	c.3368G>T	c.(3367-3369)gGg>gTg	p.G1123V		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1123					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGCTCCAGGCCCTGCAAACTG	0.552																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(3367-3369)gGg>gTg		CTS telomere maintenance complex component 1							52.0	55.0	54.0					17																	8132064		2013	4179	6192	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8132064C>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3368G>T	17.37:g.8132064C>A	ENSP00000313759:p.Gly1123Val						p.G1123V	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			21	3375	-			1123					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.3368G>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306563	0.23736	.	.	ENSG00000178971	ENST00000315684	D	0.87966	-2.32	5.34	4.38	0.52667	.	0.253577	0.39274	N	0.001409	D	0.86431	0.5931	M	0.69823	2.125	0.28107	N	0.931178	P	0.51351	0.944	P	0.44897	0.463	T	0.82448	-0.0452	10	0.72032	D	0.01	-4.8454	9.9469	0.41613	0.0:0.9063:0.0:0.0937	.	1123	Q2NKJ3	CTC1_HUMAN	V	1123	ENSP00000313759:G1123V	ENSP00000313759:G1123V	G	-	2	0	CTC1	8072789	0.002000	0.14202	0.059000	0.19551	0.469000	0.32828	1.258000	0.32944	1.277000	0.44412	0.655000	0.94253	GGG		0.552	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		19	32	1	0	3.62473e-10	1	3.76027e-10	19	32				
PTPRD	5789	broad.mit.edu	37	9	8524957	8524957	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8524957C>T	ENST00000381196.4	-	15	1190	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R207H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R216H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R210H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R216H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	216	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		agcggaatagcGAGTGCCCGC	0.488										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(646-648)cGc>cAc		protein tyrosine phosphatase, receptor type, D							123.0	124.0	123.0					9																	8524957		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8524957C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.647G>A	9.37:g.8524957C>T	ENSP00000370593:p.Arg216His	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.R216H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R207H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R216H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R210H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216H	p.R216H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	15	1190	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	216			Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.647G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107305	0.77096	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101607	0.64402	D	0.000001	T	0.76449	0.3989	L	0.35644	1.08	0.54753	D	0.999981	D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.795;1.0;1.0	D;D;D;D;D;D;B;D;D	0.91635	0.998;0.999;0.996;0.998;0.986;0.998;0.049;0.987;0.991	T	0.72147	-0.4378	9	.	.	.	.	20.4082	0.99013	0.0:1.0:0.0:0.0	.	210;210;216;216;213;213;207;216;216	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	216;216;207;207;216;210;213;213;216;216;216;210	ENSP00000370593:R216H;ENSP00000348812:R216H;ENSP00000353187:R207H;ENSP00000351293:R207H;ENSP00000347373:R216H;ENSP00000380741:R210H;ENSP00000380735:R213H;ENSP00000440515:R213H;ENSP00000438164:R216H;ENSP00000417093:R216H;ENSP00000380731:R210H	.	R	-	2	0	PTPRD	8514957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.814000	0.96858	0.655000	0.94253	CGC		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	170	0	0	0	1	0	8	170				
THOP1	7064	broad.mit.edu	37	19	2806990	2806990	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2806990G>A	ENST00000307741.6	+	7	1029	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.A155T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	276					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CCACACGCACGCCGACTATGT	0.627																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(826-828)Gcc>Acc		thimet oligopeptidase 1							98.0	81.0	87.0					19																	2806990		2202	4299	6501	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2806990G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.826G>A	19.37:g.2806990G>A	ENSP00000304467:p.Ala276Thr					THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.A155T	p.A276T	NM_003249.3	NP_003240.1	P52888	THOP1_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)	7	1029	+			276					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.826G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869592	0.72065	.	.	ENSG00000172009	ENST00000307741	T	0.15834	2.39	4.94	4.94	0.65067	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.054506	0.64402	D	0.000001	T	0.50274	0.1606	H	0.97516	4.02	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53649	0.731;0.731	T	0.71411	-0.4601	10	0.62326	D	0.03	-35.7284	16.7237	0.85416	0.0:0.0:1.0:0.0	.	155;276	B4DU96;P52888	.;THOP1_HUMAN	T	276	ENSP00000304467:A276T	ENSP00000304467:A276T	A	+	1	0	THOP1	2757990	1.000000	0.71417	0.999000	0.59377	0.256000	0.26092	6.950000	0.75977	2.279000	0.76181	0.491000	0.48974	GCC		0.627	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			6	49	0	0	0	1	0	6	49				
UVSSA	57654	broad.mit.edu	37	4	1347003	1347003	+	Missense_Mutation	SNP	C	C	T	rs144329202	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1347003C>T	ENST00000389851.4	+	5	1183	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	UVSSA_ENST00000507531.1_Missense_Mutation_p.R246W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R246W	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	246					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CCCTGACCCCCGGGACGGGGA	0.706																																						ENST00000389851.4																			0											c.(736-738)Cgg>Tgg		UV-stimulated scaffold protein A		C	TRP/ARG	1,4355		0,1,2177	17.0	22.0	20.0		736	-2.7	0.0	4	dbSNP_134	20	5,8529		0,5,4262	yes	missense	KIAA1530	NM_020894.2	101	0,6,6439	TT,TC,CC		0.0586,0.023,0.0465	benign	246/710	1347003	6,12884	2178	4267	6445	SO:0001583	missense	57654							g.chr4:1347003C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.736C>T	4.37:g.1347003C>T	ENSP00000374501:p.Arg246Trp					UVSSA_ENST00000507531.1_Missense_Mutation_p.R246W|UVSSA_ENST00000511216.1_Missense_Mutation_p.R246W	p.R246W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN			5	1183	+			246					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.736C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294733	0.23564	2.3E-4	5.86E-4	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.31247	1.5;1.5;1.5	4.48	-2.68	0.06041	.	2.534460	0.00984	N	0.003434	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19418	-1.0306	10	0.52906	T	0.07	.	2.9912	0.05983	0.3952:0.3042:0.215:0.0856	.	246	Q2YD98	K1530_HUMAN	W	246	ENSP00000425130:R246W;ENSP00000374501:R246W;ENSP00000421741:R246W	ENSP00000374501:R246W	R	+	1	2	KIAA1530	1337003	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.613000	0.05610	-0.469000	0.06911	-1.094000	0.02160	CGG		0.706	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		23	41	0	0	0	1	0	23	41				
WNT3A	89780	broad.mit.edu	37	1	228210434	228210434	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228210434G>A	ENST00000284523.1	+	2	216	c.138G>A	c.(136-138)ccG>ccA	p.P46P	WNT3A_ENST00000366753.2_Silent_p.P46P	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	46					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCAGCATCCCGGGCCTGGTCC	0.642																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(136-138)ccG>ccA		wingless-type MMTV integration site family, member 3A							50.0	49.0	49.0					1																	228210434		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210434G>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.138G>A	1.37:g.228210434G>A						WNT3A_ENST00000366753.2_Silent_p.P46P	p.P46P	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	216	+		Prostate(94;0.0405)	46					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.138G>A	CCDS1564.1																																																																																				0.642	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		29	63	0	0	0	1	0	29	63				
COL14A1	7373	broad.mit.edu	37	8	121216025	121216025	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121216025G>A	ENST00000297848.3	+	9	1225	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E224K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E319K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.E319K	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGTTGCCGAATTCGATCT	0.468																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(955-957)Gaa>Aaa		collagen, type XIV, alpha 1							138.0	117.0	124.0					8																	121216025		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216025G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.955G>A	8.37:g.121216025G>A	ENSP00000297848:p.Glu319Lys					COL14A1_ENST00000309791.4_Missense_Mutation_p.E319K|COL14A1_ENST00000537875.1_Missense_Mutation_p.E319K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E224K|COL14A1_ENST00000432943.2_3'UTR	p.E319K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1225	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		319			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.955G>A	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.105780|4.105780	0.77096|0.77096	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620|ENST00000523142	T;T;T;T;T|.	0.77877|.	-1.13;-1.13;-1.13;0.53;0.53|.	5.32|5.32	4.44|4.44	0.53790|0.53790	von Willebrand factor, type A (3);|.	0.050482|.	0.85682|.	D|.	0.000000|.	T|T	0.56016|0.56016	0.1957|0.1957	L|L	0.33189|0.33189	0.99|0.99	0.50467|0.50467	D|D	0.999878|0.999878	D|.	0.57571|.	0.98|.	B|.	0.43754|.	0.43|.	T|T	0.52793|0.52793	-0.8528|-0.8528	10|5	0.06757|.	T|.	0.87|.	.|.	15.7005|15.7005	0.77538|0.77538	0.0:0.0:0.8625:0.1375|0.0:0.0:0.8625:0.1375	.|.	319|.	Q05707|.	COEA1_HUMAN|.	K|Q	319;319;319;224;132|75	ENSP00000443974:E319K;ENSP00000311809:E319K;ENSP00000297848:E319K;ENSP00000247781:E224K;ENSP00000409461:E132K|.	ENSP00000247781:E224K|.	E|R	+|+	1|2	0|0	COL14A1|COL14A1	121285206|121285206	1.000000|1.000000	0.71417|0.71417	0.079000|0.079000	0.20413|0.20413	0.399000|0.399000	0.30720|0.30720	9.640000|9.640000	0.98453|0.98453	1.468000|1.468000	0.48064|0.48064	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		16	43	0	0	0	1	0	16	43				
SLC6A1	6529	broad.mit.edu	37	3	11067934	11067934	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:11067934G>A	ENST00000287766.4	+	10	1388	c.967G>A	c.(967-969)Gtc>Atc	p.V323I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.V145I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	323					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTCCATCATCGTCTGCTGCAT	0.582																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(967-969)Gtc>Atc		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						175.0	156.0	162.0					3																	11067934		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067934G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.967G>A	3.37:g.11067934G>A	ENSP00000287766:p.Val323Ile					SLC6A1_ENST00000536032.1_Missense_Mutation_p.V145I	p.V323I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	10	1388	+		Ovarian(110;0.0392)	323					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.967G>A	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066291	0.76187	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.75704	-0.96;-0.96	5.61	5.61	0.85477	.	0.098719	0.42964	N	0.000628	T	0.65080	0.2657	L	0.31120	0.905	0.80722	D	1	P	0.40553	0.721	B	0.35114	0.196	T	0.65557	-0.6139	10	0.37606	T	0.19	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	323	P30531	SC6A1_HUMAN	I	323;145	ENSP00000287766:V323I;ENSP00000445171:V145I	ENSP00000287766:V323I	V	+	1	0	SLC6A1	11042934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.608000	0.98331	2.813000	0.96785	0.655000	0.94253	GTC		0.582	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		54	137	0	0	0	1	0	54	137				
PNCK	139728	broad.mit.edu	37	X	152937471	152937471	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:152937471A>G	ENST00000370150.1	-	5	456	c.278T>C	c.(277-279)gTg>gCg	p.V93A	PNCK_ENST00000340888.3_Missense_Mutation_p.V93A|PNCK_ENST00000370145.4_Missense_Mutation_p.V110A|PNCK_ENST00000447676.2_Missense_Mutation_p.V176A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.V93A|PNCK_ENST00000393831.2_Missense_Mutation_p.V93A			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCGTCACCCTGGGGGT	0.667																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(277-279)gTg>gCg		pregnancy up-regulated nonubiquitous CaM kinase							39.0	34.0	36.0					X																	152937471		2203	4299	6502	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937471A>G	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.278T>C	X.37:g.152937471A>G	ENSP00000359169:p.Val93Ala					PNCK_ENST00000447676.2_Missense_Mutation_p.V176A|PNCK_ENST00000370142.1_Missense_Mutation_p.V93A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000340888.3_Missense_Mutation_p.V93A|PNCK_ENST00000370145.4_Missense_Mutation_p.V110A|PNCK_ENST00000370150.1_Missense_Mutation_p.V93A	p.V93A	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			5	712	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		93			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.278T>C		.	.	.	.	.	.	.	.	.	.	a	18.26	3.584022	0.65992	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000135	T	0.24624	0.0597	N	0.03294	-0.36	0.54753	D	0.99998	D;D;D;D	0.69078	0.997;0.992;0.993;0.993	D;P;P;P	0.77557	0.99;0.857;0.882;0.882	T	0.24548	-1.0157	10	0.17369	T	0.5	-23.9266	12.7717	0.57426	1.0:0.0:0.0:0.0	.	120;176;110;93	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	A	93;93;93;93;110;176;93;93	ENSP00000340586:V93A;ENSP00000359169:V93A;ENSP00000377417:V93A;ENSP00000359161:V93A;ENSP00000359164:V110A;ENSP00000405950:V176A;ENSP00000415770:V93A;ENSP00000391772:V93A	ENSP00000340586:V93A	V	-	2	0	PNCK	152590665	1.000000	0.71417	0.992000	0.48379	0.929000	0.56500	9.143000	0.94623	1.653000	0.50694	0.430000	0.28490	GTG		0.667	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		3	26	0	0	0	1	0	3	26				
FAM129B	64855	broad.mit.edu	37	9	130293932	130293932	+	Missense_Mutation	SNP	G	G	A	rs371821621		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130293932G>A	ENST00000373312.3	-	2	394	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R48C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	61					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCACCTTGCGCCAGAGCAGC	0.592																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(181-183)Cgc>Tgc		family with sequence similarity 129, member B			CYS/ARG,CYS/ARG	0,4406		0,0,2203	59.0	62.0	61.0		142,181	4.8	1.0	9		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM129B	NM_001035534.1,NM_022833.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	48/734,61/747	130293932	1,13005	2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130293932G>A	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.181C>T	9.37:g.130293932G>A	ENSP00000362409:p.Arg61Cys					FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R48C	p.R61C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			2	394	-			61					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.181C>T	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.388380	0.82902	0.0	1.16E-4	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.27557	1.69;1.66	4.82	4.82	0.62117	.	0.128387	0.51477	D	0.000090	T	0.46580	0.1400	L	0.55481	1.735	0.54753	D	0.999989	D;D	0.76494	0.998;0.999	P;P	0.58873	0.847;0.847	T	0.45818	-0.9235	10	0.72032	D	0.01	-20.7939	15.4274	0.75065	0.0:0.0:1.0:0.0	.	48;61	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	C	48;61	ENSP00000362411:R48C;ENSP00000362409:R61C	ENSP00000362409:R61C	R	-	1	0	FAM129B	129333753	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.338000	0.52128	2.503000	0.84419	0.556000	0.70494	CGC		0.592	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		36	72	0	0	0	1	0	36	72				
PCLO	27445	broad.mit.edu	37	7	82583452	82583452	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82583452T>C	ENST00000333891.9	-	5	7154	c.6817A>G	c.(6817-6819)Atc>Gtc	p.I2273V	PCLO_ENST00000423517.2_Missense_Mutation_p.I2273V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATTCTATGATAGAAGATGCC	0.403																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6817-6819)Atc>Gtc		piccolo presynaptic cytomatrix protein							92.0	89.0	90.0					7																	82583452		1880	4116	5996	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.chr7:82583452T>C	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.6817A>G	7.37:g.82583452T>C	ENSP00000334319:p.Ile2273Val					PCLO_ENST00000333891.8_Missense_Mutation_p.I2273V	p.I2273V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	7154	-			2204						Missense_Mutation	SNP	ENST00000333891.9	37	c.6817A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	4.449	0.083141	0.08533	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.13657	2.58;2.57	5.55	-4.94	0.03057	.	.	.	.	.	T	0.03390	0.0098	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.87932	D	0	.	8.3659	0.32387	0.0:0.4934:0.2378:0.2688	.	2273;2273	Q9Y6V0-5;Q9Y6V0-6	.;.	V	2204;2273;2273	ENSP00000334319:I2273V;ENSP00000388393:I2273V	ENSP00000334319:I2273V	I	-	1	0	PCLO	82421388	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.131000	0.03238	-0.892000	0.03935	0.491000	0.48974	ATC		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	116	0	0	0	1	0	7	116				
PQLC3	130814	broad.mit.edu	37	2	11317936	11317936	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11317936C>T	ENST00000295083.3	+	7	766	c.591C>T	c.(589-591)acC>acT	p.T197T	PQLC3_ENST00000402361.1_3'UTR|PQLC3_ENST00000441908.2_Silent_p.T183T	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	197						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGAAGACCGCTATAAAGG	0.348																																						ENST00000295083.3																			0				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(589-591)acC>acT		PQ loop repeat containing 3							96.0	94.0	95.0					2																	11317936		2203	4300	6503	SO:0001819	synonymous_variant	130814					integral to membrane		g.chr2:11317936C>T	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.591C>T	2.37:g.11317936C>T						PQLC3_ENST00000441908.2_Silent_p.T183T|PQLC3_ENST00000402361.1_3'UTR	p.T197T	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	7	766	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		197					B2R8K1|B4DWA4	Silent	SNP	ENST00000295083.3	37	c.591C>T	CCDS1679.1																																																																																				0.348	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4	NM_152391		5	45	0	0	0	1	0	5	45				
LRRN2	10446	broad.mit.edu	37	1	204588019	204588019	+	Missense_Mutation	SNP	C	C	T	rs149220897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:204588019C>T	ENST00000367175.1	-	1	3314	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	LRRN2_ENST00000367177.3_Missense_Mutation_p.G368S|LRRN2_ENST00000367176.3_Missense_Mutation_p.G368S|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	368					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGGGGTTGCCGTGGAGACCT	0.637																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1102-1104)Ggc>Agc		leucine rich repeat neuronal 2		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	69.0	70.0	69.0		1102,1102	4.8	1.0	1	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	LRRN2	NM_006338.2,NM_201630.1	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	368/714,368/714	204588019	1,13005	2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588019C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1102G>A	1.37:g.204588019C>T	ENSP00000356143:p.Gly368Ser					LRRN2_ENST00000367176.3_Missense_Mutation_p.G368S|LRRN2_ENST00000367177.3_Missense_Mutation_p.G368S	p.G368S			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3314	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		368					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1102G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	3.266	-0.150231	0.06585	2.27E-4	0.0	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.58652	0.32;0.32;0.32	5.69	4.78	0.61160	.	0.000000	0.44097	D	0.000496	T	0.32734	0.0839	N	0.17278	0.47	0.38758	D	0.954255	B	0.30634	0.288	B	0.30316	0.114	T	0.28554	-1.0040	10	0.02654	T	1	.	7.17	0.25712	0.0:0.7138:0.0:0.2862	.	368	O75325	LRRN2_HUMAN	S	368	ENSP00000356144:G368S;ENSP00000356145:G368S;ENSP00000356143:G368S	ENSP00000356143:G368S	G	-	1	0	LRRN2	202854642	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	2.155000	0.42301	1.410000	0.46936	0.563000	0.77884	GGC		0.637	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		27	65	0	0	0	1	0	27	65				
WNT6	7475	broad.mit.edu	37	2	219736335	219736335	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219736335C>T	ENST00000233948.3	+	3	647	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	144					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccctccccggccctccgg	0.796																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(430-432)Cgg>Tgg		wingless-type MMTV integration site family, member 6							3.0	4.0	4.0					2																	219736335		1293	2868	4161	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219736335C>T	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.430C>T	2.37:g.219736335C>T	ENSP00000233948:p.Arg144Trp					WNT6_ENST00000486233.1_3'UTR	p.R144W	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	647	+		Renal(207;0.0474)	144					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.430C>T	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258451	0.39896	.	.	ENSG00000115596	ENST00000233948	T	0.78126	-1.15	4.5	-0.222	0.13122	.	1.991910	0.03376	U	0.199667	T	0.71962	0.3402	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.48089	0.566	T	0.61436	-0.7063	10	0.72032	D	0.01	.	3.0187	0.06069	0.2824:0.3681:0.2614:0.088	.	144	Q9Y6F9	WNT6_HUMAN	W	144	ENSP00000233948:R144W	ENSP00000233948:R144W	R	+	1	2	WNT6	219444579	0.022000	0.18835	0.018000	0.16275	0.105000	0.19272	1.659000	0.37387	0.321000	0.23259	-0.334000	0.08254	CGG		0.796	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		4	14	0	0	0	1	0	4	14				
ADAMTS8	11095	broad.mit.edu	37	11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(850-852)Gac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 8							152.0	160.0	157.0					11																	130289058		1980	4171	6151	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289058C>T	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.850G>A	11.37:g.130289058C>T	ENSP00000257359:p.Asp284Asn						p.D284N	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1556	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	284			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.850G>A	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876548	0.33162	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.86627	-2.15	5.62	4.68	0.58851	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.173127	0.64402	D	0.000007	T	0.79805	0.4509	L	0.31420	0.93	0.38909	D	0.957488	P	0.34757	0.467	B	0.30855	0.121	T	0.77760	-0.2467	10	0.25751	T	0.34	.	16.3103	0.82865	0.0:0.8675:0.1325:0.0	.	284	Q9UP79	ATS8_HUMAN	N	284;313	ENSP00000257359:D284N	ENSP00000257359:D284N	D	-	1	0	ADAMTS8	129794268	0.947000	0.32204	0.793000	0.32043	0.544000	0.35116	1.907000	0.39897	1.308000	0.44962	0.655000	0.94253	GAC		0.552	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		76	202	0	0	0	1	0	76	202				
MCM7	4176	broad.mit.edu	37	7	99690698	99690698	+	Nonsense_Mutation	SNP	G	G	A	rs532820415		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99690698G>A	ENST00000303887.5	-	15	2662	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	MIR106B_ENST00000385301.1_RNA|MIR25_ENST00000384816.1_RNA|MIR93_ENST00000385024.1_RNA|MCM7_ENST00000343023.6_Nonsense_Mutation_p.R343*|MCM7_ENST00000354230.3_Nonsense_Mutation_p.R497*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	673	Interaction with ATRIP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGACACTTCGGCCCCCTGAG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		20659	0.0		0.0	False		,,,				2504	0.001					ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.(2017-2019)Cga>Tga		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						66.0	57.0	60.0					7																	99690698		2203	4300	6503	SO:0001587	stop_gained	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99690698G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.2017C>T	7.37:g.99690698G>A	ENSP00000307288:p.Arg673*					MCM7_ENST00000343023.6_Nonsense_Mutation_p.R343*|MCM7_ENST00000354230.3_Nonsense_Mutation_p.R497*	p.R673*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN			15	2662	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		673			Interaction with ATRIP.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Nonsense_Mutation	SNP	ENST00000303887.5	37	c.2017C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	46	12.344318	0.99659	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	.	.	.	5.98	1.9	0.25705	.	0.593663	0.15812	N	0.243435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-15.2872	9.3413	0.38082	0.0731:0.0:0.6284:0.2984	.	.	.	.	X	343;673;610;566;497	.	ENSP00000307288:R673X	R	-	1	2	MCM7	99528634	0.223000	0.23663	0.062000	0.19696	0.634000	0.38068	0.960000	0.29253	0.069000	0.16605	0.591000	0.81541	CGA		0.547	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			11	38	0	0	0	1	0	11	38				
MYBPC3	4607	broad.mit.edu	37	11	47360137	47360137	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:47360137C>T	ENST00000545968.1	-	23	2296	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V747I|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V748I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	748	Ig-like C2-type 5.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCGTGTAGACGCCCTCATCT	0.637																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2242-2244)Gtc>Atc		myosin binding protein C, cardiac							87.0	93.0	91.0					11																	47360137		2112	4213	6325	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47360137C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2242G>A	11.37:g.47360137C>T	ENSP00000442795:p.Val748Ile					MYBPC3_ENST00000399249.2_Missense_Mutation_p.V748I|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V747I	p.V748I	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	23	2296	-			747			Ig-like C2-type 5.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2242G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594828	0.46318	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.66638	-0.22;-0.22;-0.22	5.4	3.54	0.40534	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51601	0.1684	N	0.25332	0.735	0.42866	D	0.994129	B	0.14012	0.009	B	0.14578	0.011	T	0.38672	-0.9650	9	0.27082	T	0.32	.	11.9375	0.52882	0.0:0.859:0.0:0.141	.	747	Q14896	MYPC3_HUMAN	I	748;748;747	ENSP00000442795:V748I;ENSP00000382193:V748I;ENSP00000256993:V747I	ENSP00000256993:V747I	V	-	1	0	MYBPC3	47316713	0.381000	0.25140	0.910000	0.35882	0.904000	0.53231	1.130000	0.31393	0.662000	0.31006	-0.244000	0.11960	GTC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			13	45	0	0	0	1	0	13	45				
NNMT	4837	broad.mit.edu	37	11	114183174	114183174	+	Missense_Mutation	SNP	C	C	T	rs576476423		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:114183174C>T	ENST00000535401.1	+	5	1034	c.770C>T	c.(769-771)gCg>gTg	p.A257V	NNMT_ENST00000545255.1_Missense_Mutation_p.A62V|NNMT_ENST00000299964.3_Missense_Mutation_p.A257V|NNMT_ENST00000541754.1_Missense_Mutation_p.A62V|NNMT_ENST00000542647.1_Missense_Mutation_p.A62V|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	257					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCCCTGGTGGCGAGGAAGCTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		22331	0.001		0.0	False		,,,				2504	0.0					ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(769-771)gCg>gTg		nicotinamide N-methyltransferase	Niacin(DB00627)						98.0	93.0	94.0					11																	114183174		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114183174C>T	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.770C>T	11.37:g.114183174C>T	ENSP00000441434:p.Ala257Val					RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.A257V|NNMT_ENST00000542647.1_Missense_Mutation_p.A62V|NNMT_ENST00000545255.1_Missense_Mutation_p.A62V|NNMT_ENST00000541754.1_Missense_Mutation_p.A62V	p.A257V			P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	1034	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	257						Missense_Mutation	SNP	ENST00000535401.1	37	c.770C>T	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687871	0.88639	.	.	ENSG00000166741	ENST00000535401;ENST00000299964;ENST00000541754;ENST00000542647;ENST00000545255	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	4.93	2.98	0.34508	.	0.254272	0.30365	N	0.009796	T	0.24314	0.0589	L	0.61036	1.89	0.19575	N	0.999968	D	0.89917	1.0	D	0.67725	0.953	T	0.06661	-1.0814	10	0.87932	D	0	-1.7316	14.8063	0.69959	0.0:0.5894:0.4106:0.0	.	257	P40261	NNMT_HUMAN	V	257;257;62;62;62	ENSP00000441434:A257V;ENSP00000299964:A257V;ENSP00000445680:A62V;ENSP00000445994:A62V;ENSP00000445248:A62V	ENSP00000299964:A257V	A	+	2	0	NNMT	113688384	0.971000	0.33674	0.426000	0.26672	0.715000	0.41141	1.911000	0.39937	0.115000	0.18071	-1.100000	0.02121	GCG		0.483	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		14	106	0	0	0	1	0	14	106				
PCDHA9	9752	broad.mit.edu	37	5	140229397	140229397	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140229397C>A	ENST00000532602.1	+	1	2350	c.1317C>A	c.(1315-1317)gcC>gcA	p.A439A	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.A439A	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	439	Cadherin 4. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCACGGCCAGGGTGTCTG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1315-1317)gcC>gcA									83.0	79.0	80.0					5																	140229397		2196	4268	6464	SO:0001819	synonymous_variant	0							g.chr5:140229397C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1317C>A	5.37:g.140229397C>A						PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.A439A|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.A439A	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2041	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1317C>A	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		61	146	1	0	3.28156e-27	1	3.4573e-27	61	146				
ZFHX3	463	broad.mit.edu	37	16	72829831	72829831	+	Silent	SNP	C	C	T	rs139895950	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:72829831C>T	ENST00000268489.5	-	9	7422	c.6750G>A	c.(6748-6750)acG>acA	p.T2250T	ZFHX3_ENST00000397992.5_Silent_p.T1336T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2250					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGTCCGTAAACCTTG	0.512													C|||	6	0.00119808	0.0	0.0	5008	,	,		19884	0.0		0.006	False		,,,				2504	0.0					ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6748-6750)acG>acA		zinc finger homeobox 3		C	,	1,4395	2.1+/-5.4	0,1,2197	189.0	176.0	180.0		4008,6750	-11.6	0.0	16	dbSNP_134	180	17,8583	12.6+/-44.7	0,17,4283	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,18,6480	TT,TC,CC		0.1977,0.0227,0.1385	,	1336/2790,2250/3704	72829831	18,12978	2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829831C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6750G>A	16.37:g.72829831C>T						ZFHX3_ENST00000397992.5_Silent_p.T1336T	p.T2250T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	7422	-		Ovarian(137;0.13)	2250					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.6750G>A	CCDS10908.1																																																																																				0.512	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		40	95	0	0	0	1	0	40	95				
UCMA	221044	broad.mit.edu	37	10	13264116	13264116	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13264116C>T	ENST00000378681.3	-	5	476	c.404G>A	c.(403-405)cGc>cAc	p.R135H	UCMA_ENST00000463405.2_Missense_Mutation_p.R113H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	135					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTGTGGTGGCGGTTGTAGAG	0.587																																						ENST00000378681.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(403-405)cGc>cAc		upper zone of growth plate and cartilage matrix associated							127.0	113.0	118.0					10																	13264116		2203	4300	6503	SO:0001583	missense	221044					proteinaceous extracellular matrix		g.chr10:13264116C>T	BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.404G>A	10.37:g.13264116C>T	ENSP00000367952:p.Arg135His					UCMA_ENST00000463405.2_Missense_Mutation_p.R113H	p.R135H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN			5	476	-			135						Missense_Mutation	SNP	ENST00000378681.3	37	c.404G>A	CCDS31147.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532927	0.64972	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.49640	1.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77048	-0.2732	9	0.87932	D	0	-5.7598	15.5703	0.76330	0.0:1.0:0.0:0.0	.	135	Q8WVF2	UCMA_HUMAN	H	135	.	ENSP00000367952:R135H	R	-	2	0	UCMA	13304122	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	2.930000	0.48924	2.412000	0.81896	0.448000	0.29417	CGC		0.587	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046843.2	NM_145314		15	45	0	0	0	1	0	15	45				
VTI1A	143187	broad.mit.edu	37	10	114428700	114428700	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:114428700G>A	ENST00000393077.2	+	7	619	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	RP11-25C19.3_ENST00000443652.1_RNA|VTI1A_ENST00000432306.1_Missense_Mutation_p.R168Q	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	168					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTGTAGCTTCGGGAAACAGAT	0.373			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(502-504)cGg>cAg		vesicle transport through interaction with t-SNAREs 1A							129.0	126.0	127.0					10																	114428700		2203	4300	6503	SO:0001583	missense	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114428700G>A	BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.503G>A	10.37:g.114428700G>A	ENSP00000376792:p.Arg168Gln					VTI1A_ENST00000432306.1_Missense_Mutation_p.R168Q	p.R168Q	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	7	619	+		Colorectal(252;0.0314)|Breast(234;0.183)	168					A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	ENST00000393077.2	37	c.503G>A	CCDS7575.2	.	.	.	.	.	.	.	.	.	.	G	33	5.220043	0.95139	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	T;T	0.76968	-1.06;-1.06	5.74	5.74	0.90152	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.82153	0.4975	L	0.41632	1.29	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.65874	0.939;0.915	T	0.74456	-0.3659	10	0.10111	T	0.7	-22.3654	20.2982	0.98569	0.0:0.0:1.0:0.0	.	168;168	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	Q	168	ENSP00000376792:R168Q;ENSP00000395017:R168Q	ENSP00000376792:R168Q	R	+	2	0	VTI1A	114418690	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.132000	0.94455	2.873000	0.98535	0.563000	0.77884	CGG		0.373	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			8	118	0	0	0	1	0	8	118				
VAMP5	10791	broad.mit.edu	37	2	85818986	85818986	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:85818986G>A	ENST00000306384.4	+	2	224		c.e2+1			NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5						cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|large_intestine(3)|lung(1)	5						CCTGGATATGGTGTGAGGCCT	0.567																																						ENST00000306384.4																			0				NS(1)|large_intestine(3)|lung(1)	5						c.e2+1		vesicle-associated membrane protein 5							110.0	101.0	104.0					2																	85818986		2203	4300	6503	SO:0001630	splice_region_variant	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85818986G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.141+1G>A	2.37:g.85818986G>A								NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN			2	224	+								Q9P0T2	Splice_Site	SNP	ENST00000306384.4	37		CCDS1980.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108644	0.56291	.	.	ENSG00000168899	ENST00000306384	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4194	0.60987	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VAMP5	85672497	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	5.385000	0.66231	2.240000	0.73641	0.561000	0.74099	.		0.567	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634	Intron	5	158	0	0	0	1	0	5	158				
JKAMP	51528	broad.mit.edu	37	14	59965595	59965595	+	Silent	SNP	C	C	T	rs370456734		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:59965595C>T	ENST00000261247.9	+	5	756	c.609C>T	c.(607-609)acC>acT	p.T203T	JKAMP_ENST00000425728.2_Silent_p.T197T|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.T211T|JKAMP_ENST00000554271.1_Silent_p.T217T	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	218					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAATTTTAACCGTGCTTCAGG	0.358																																						ENST00000554271.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(3)	6						c.(649-651)acC>acT		JNK1/MAPK8-associated membrane protein		C	,	0,3662		0,0,1831	105.0	94.0	97.0		591,609	-10.6	0.7	14		97	1,8185		0,1,4092	no	coding-synonymous,coding-synonymous	JKAMP	NM_001098625.1,NM_016475.3	,	0,1,5923	TT,TC,CC		0.0122,0.0,0.0084	,	197/306,203/312	59965595	1,11847	1831	4093	5924	SO:0001819	synonymous_variant	51528				ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding	g.chr14:59965595C>T	AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.609C>T	14.37:g.59965595C>T						JKAMP_ENST00000425728.2_Silent_p.T197T|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Silent_p.T211T|JKAMP_ENST00000261247.9_Silent_p.T203T	p.T217T			Q9P055	JKAMP_HUMAN			5	1177	+			218					B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Silent	SNP	ENST00000261247.9	37	c.651C>T	CCDS45116.1																																																																																				0.358	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411430.1	NM_001098625		9	17	0	0	0	1	0	9	17				
ZNF549	256051	broad.mit.edu	37	19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58048626C>T	ENST00000376233.3	+	4	435	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(253-255)gCg>gTg		zinc finger protein 549							114.0	102.0	106.0					19																	58048626		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048626C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.254C>T	19.37:g.58048626C>T	ENSP00000365407:p.Ala85Val					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V|ZNF549_ENST00000594943.1_Intron	p.A85V	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	435	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	85			KRAB.		B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.254C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.743933	0.00675	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.04970	3.54;3.52	2.28	-2.44	0.06502	Krueppel-associated box (1);	.	.	.	.	T	0.01558	0.0050	N	0.00422	-1.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47182	-0.9137	9	0.28530	T	0.3	.	6.475	0.22031	0.0:0.4175:0.0:0.5825	.	85;72	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	V	72;85	ENSP00000240719:A72V;ENSP00000365407:A85V	ENSP00000240719:A72V	A	+	2	0	ZNF549	62740438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.030000	0.03581	-0.664000	0.05324	-0.812000	0.03155	GCG		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		22	81	0	0	0	1	0	22	81				
NIPBL	25836	broad.mit.edu	37	5	37064774	37064774	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:37064774G>A	ENST00000282516.8	+	47	8694	c.8195G>A	c.(8194-8196)aGc>aAc	p.S2732N		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2732					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)			CAGAAAACCAGCAGTGGCTTC	0.507																																						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.(8194-8196)aGc>aAc		Nipped-B homolog (Drosophila)							155.0	140.0	145.0					5																	37064774		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.chr5:37064774G>A	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.8195G>A	5.37:g.37064774G>A	ENSP00000282516:p.Ser2732Asn						p.S2732N	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)		47	8694	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2732					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.8195G>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801140	0.31869	.	.	ENSG00000164190	ENST00000282516	D	0.93712	-3.27	5.84	5.84	0.93424	.	0.212425	0.42294	D	0.000726	D	0.89911	0.6852	L	0.29908	0.895	0.80722	D	1	P	0.42827	0.791	B	0.37989	0.262	D	0.90774	0.4674	10	0.72032	D	0.01	-7.4667	20.139	0.98050	0.0:0.0:1.0:0.0	.	2732	Q6KC79	NIPBL_HUMAN	N	2732	ENSP00000282516:S2732N	ENSP00000282516:S2732N	S	+	2	0	NIPBL	37100531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.763000	0.62257	2.764000	0.94973	0.655000	0.94253	AGC		0.507	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		59	123	0	0	0	1	0	59	123				
PELP1	27043	broad.mit.edu	37	17	4575245	4575245	+	Missense_Mutation	SNP	G	G	A	rs368789821		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:4575245G>A	ENST00000574876.1	-	16	3058	c.3041C>T	c.(3040-3042)aCg>aTg	p.T1014M	PELP1_ENST00000436683.2_Intron|PELP1_ENST00000572293.1_Missense_Mutation_p.T1064M|PELP1_ENST00000301396.4_Missense_Mutation_p.T1158M|PELP1_ENST00000269230.7_Missense_Mutation_p.T924M			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1014	Glu-rich.|Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCTCCTCCGTCCCTGGCTC	0.677																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(3472-3474)aCg>aTg		proline, glutamate and leucine rich protein 1		G	MET/THR	1,3773		0,1,1886	15.0	15.0	15.0		3041	4.0	0.0	17		15	1,8205		0,1,4102	no	missense	PELP1	NM_014389.2	81	0,2,5988	AA,AG,GG		0.0122,0.0265,0.0167	benign	1014/1131	4575245	2,11978	1887	4103	5990	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4575245G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.3041C>T	17.37:g.4575245G>A	ENSP00000461625:p.Thr1014Met					PELP1_ENST00000269230.7_Missense_Mutation_p.T924M|PELP1_ENST00000574876.1_Missense_Mutation_p.T1014M|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000572293.1_Missense_Mutation_p.T1064M	p.T1158M			Q8IZL8	PELP1_HUMAN			16	3698	-			1014					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.3473C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	5.266	0.234490	0.09969	2.65E-4	1.22E-4	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.45276	0.9;0.94	4.98	4.01	0.46588	.	1.095300	0.06952	N	0.814837	T	0.33527	0.0866	N	0.22421	0.69	0.22552	N	0.998996	B	0.27264	0.173	B	0.26202	0.067	T	0.29822	-0.9999	10	0.48119	T	0.1	0.008	11.4727	0.50280	0.0887:0.0:0.9113:0.0	.	1014	Q8IZL8	PELP1_HUMAN	M	1158;924	ENSP00000301396:T1158M;ENSP00000269230:T924M	ENSP00000269230:T924M	T	-	2	0	AC091153.1	4521994	.	.	0.001000	0.08648	0.810000	0.45777	.	.	1.236000	0.43740	0.655000	0.94253	ACG		0.677	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		3	21	0	0	0	1	0	3	21				
PHRF1	57661	broad.mit.edu	37	11	607296	607296	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:607296C>A	ENST00000264555.5	+	14	1968	c.1840C>A	c.(1840-1842)Cgg>Agg	p.R614R	PHRF1_ENST00000416188.2_Silent_p.R613R|PHRF1_ENST00000533464.1_Silent_p.R610R|PHRF1_ENST00000413872.2_Silent_p.R612R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTCAGGCTCGGAACTTGTC	0.672																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1840-1842)Cgg>Agg		PHD and ring finger domains 1							62.0	70.0	67.0					11																	607296		1965	4136	6101	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:607296C>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1840C>A	11.37:g.607296C>A						PHRF1_ENST00000413872.2_Silent_p.R612R|PHRF1_ENST00000416188.2_Silent_p.R613R|PHRF1_ENST00000533464.1_Silent_p.R610R	p.R614R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	1968	+			614					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.1840C>A																																																																																					0.672	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		5	143	1	0	0.000602214	1	0.000612978	5	143				
DNAH2	146754	broad.mit.edu	37	17	7682662	7682662	+	Silent	SNP	C	C	T	rs144218986		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7682662C>T	ENST00000572933.1	+	36	7103	c.5643C>T	c.(5641-5643)gcC>gcT	p.A1881A	DNAH2_ENST00000389173.2_Silent_p.A1881A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1881	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTGGCTGCCGGCCTCACCC	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(5641-5643)gcC>gcT		dynein, axonemal, heavy chain 2		C		1,4405	2.1+/-5.4	0,1,2202	87.0	69.0	75.0		5643	-5.3	0.0	17	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	DNAH2	NM_020877.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1881/4428	7682662	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7682662C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5643C>T	17.37:g.7682662C>T						DNAH2_ENST00000389173.2_Silent_p.A1881A	p.A1881A			Q9P225	DYH2_HUMAN			36	7103	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1881			AAA 1 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.5643C>T	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		11	31	0	0	0	1	0	11	31				
ACO2	50	broad.mit.edu	37	22	41895751	41895751	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41895751T>C	ENST00000216254.4	+	2	80	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	ACO2_ENST00000396512.3_Missense_Mutation_p.Y20H	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	20					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGTGCGGCAGTACCATGTGGC	0.527																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(58-60)Tac>Cac		aconitase 2, mitochondrial							214.0	204.0	208.0					22																	41895751		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41895751T>C	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.58T>C	22.37:g.41895751T>C	ENSP00000216254:p.Tyr20His					ACO2_ENST00000216254.4_Missense_Mutation_p.Y20H	p.Y20H			Q99798	ACON_HUMAN			2	75	+			20					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.58T>C	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	T	19.11	3.764108	0.69878	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.43688	0.94;0.94	5.01	5.01	0.66863	.	0.233919	0.44902	D	0.000406	T	0.41213	0.1149	L	0.38838	1.175	0.37687	D	0.923715	P;P	0.44478	0.813;0.836	P;P	0.45913	0.497;0.497	T	0.47341	-0.9125	10	0.46703	T	0.11	.	15.0306	0.71705	0.0:0.0:0.0:1.0	.	20;20	A2A274;Q99798	.;ACON_HUMAN	H	20	ENSP00000216254:Y20H;ENSP00000379769:Y20H	ENSP00000216254:Y20H	Y	+	1	0	ACO2	40225697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.845000	0.48254	2.010000	0.58986	0.477000	0.44152	TAC		0.527	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		9	341	0	0	0	1	0	9	341				
PCDHB12	56124	broad.mit.edu	37	5	140589863	140589863	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140589863G>A	ENST00000239450.2	+	1	1573	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.617																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1384-1386)Gag>Aag									96.0	94.0	95.0					5																	140589863		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589863G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1384G>A	5.37:g.140589863G>A	ENSP00000239450:p.Glu462Lys					PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K	p.E462K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1573	+			462			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1384G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298966	0.60195	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.76316	-1.01;-1.01	3.83	2.95	0.34219	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91723	0.7383	H	0.98333	4.205	0.40647	D	0.982004	D	0.89917	1.0	D	0.97110	1.0	D	0.92708	0.6180	9	0.87932	D	0	.	10.8885	0.46981	0.0959:0.0:0.9041:0.0	.	462	Q9Y5F1	PCDBC_HUMAN	K	125;462;82	ENSP00000440199:E125K;ENSP00000239450:E462K	ENSP00000239450:E462K	E	+	1	0	PCDHB12	140570047	1.000000	0.71417	0.604000	0.28916	0.208000	0.24298	9.745000	0.98856	0.730000	0.32425	0.485000	0.47835	GAG		0.617	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	201	0	0	0	1	0	12	201				
RAI1	10743	broad.mit.edu	37	17	17698444	17698444	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:17698444T>C	ENST00000353383.1	+	3	2651	c.2182T>C	c.(2182-2184)Tgt>Cgt	p.C728R	RAI1_ENST00000261641.6_Missense_Mutation_p.C728R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	728					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCTTTTGACTGTTTCCCGGA	0.597																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(2182-2184)Tgt>Cgt		retinoic acid induced 1							64.0	66.0	65.0					17																	17698444		2203	4300	6503	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17698444T>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.2182T>C	17.37:g.17698444T>C	ENSP00000323074:p.Cys728Arg					RAI1_ENST00000261641.6_Missense_Mutation_p.C728R	p.C728R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	2651	+			728					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.2182T>C	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501496	0.44455	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.73258	-0.73;2.07;-0.14	5.55	5.55	0.83447	.	0.063358	0.64402	D	0.000003	T	0.79851	0.4517	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.80471	-0.1368	10	0.52906	T	0.07	.	10.8607	0.46825	0.1407:0.0:0.0:0.8593	.	728	Q7Z5J4	RAI1_HUMAN	R	728;728;728;728;728;680	ENSP00000323074:C728R;ENSP00000379120:C728R;ENSP00000261641:C728R	ENSP00000261641:C728R	C	+	1	0	RAI1	17639169	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	3.680000	0.54641	2.117000	0.64856	0.459000	0.35465	TGT		0.597	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		34	93	0	0	0	1	0	34	93				
SSPO	23145	broad.mit.edu	37	7	149511934	149511934	+	RNA	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149511934G>A	ENST00000378016.2	+	0	10484							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGGAGCCGGGCGTGCAGC	0.677																																						ENST00000378016.2																			0													SCO-spondin							7.0	9.0	8.0					7																	149511934		2019	4112	6131			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149511934G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149511934G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10484	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	1	0	0	0	1	0	4	1				
PES1	23481	broad.mit.edu	37	22	30977346	30977346	+	Missense_Mutation	SNP	G	G	A	rs537835882		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:30977346G>A	ENST00000405677.1	-	10	1323	c.380C>T	c.(379-381)gCg>gTg	p.A127V	PES1_ENST00000354694.7_Missense_Mutation_p.A266V|PES1_ENST00000402284.3_Missense_Mutation_p.A249V|PES1_ENST00000402281.1_Missense_Mutation_p.A127V|PES1_ENST00000335214.6_Missense_Mutation_p.A266V	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGAGTCCAACGCGTAGGTGCC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		15721	0.0		0.0	False		,,,				2504	0.001					ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(379-381)gCg>gTg		pescadillo ribosomal biogenesis factor 1							66.0	60.0	62.0					22																	30977346		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30977346G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.380C>T	22.37:g.30977346G>A	ENSP00000385654:p.Ala127Val					PES1_ENST00000405677.1_Missense_Mutation_p.A127V|PES1_ENST00000402284.3_Missense_Mutation_p.A249V|PES1_ENST00000335214.6_Missense_Mutation_p.A266V|PES1_ENST00000354694.6_Missense_Mutation_p.A266V	p.A127V			O00541	PESC_HUMAN			10	1371	-			266			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.380C>T		.	.	.	.	.	.	.	.	.	.	G	14.03	2.413753	0.42817	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.49474	0.1559	L	0.59436	1.845	0.80722	D	1	D;P;D;D	0.65815	0.988;0.66;0.995;0.988	P;B;P;P	0.50934	0.636;0.145;0.654;0.636	T	0.39143	-0.9628	10	0.23891	T	0.37	-22.8919	16.731	0.85435	0.0:0.0:1.0:0.0	.	266;249;266;266	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	V	266;127;127;249;266	ENSP00000346725:A266V;ENSP00000384366:A127V;ENSP00000385654:A127V;ENSP00000384252:A249V;ENSP00000334612:A266V	ENSP00000334612:A266V	A	-	2	0	PES1	29307346	1.000000	0.71417	0.098000	0.21074	0.028000	0.11728	7.535000	0.82014	2.478000	0.83669	0.561000	0.74099	GCG		0.627	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		12	27	0	0	0	1	0	12	27				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			0							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	34	0	0	0	1	0	3	34				
HPS5	11234	broad.mit.edu	37	11	18332308	18332308	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18332308T>A	ENST00000349215.3	-	5	734	c.457A>T	c.(457-459)Aat>Tat	p.N153Y	HPS5_ENST00000396253.3_Missense_Mutation_p.N39Y|HPS5_ENST00000438420.2_Missense_Mutation_p.N39Y|HPS5_ENST00000531848.1_Missense_Mutation_p.N39Y	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	153					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGAAGTATTGAGTTTGATA	0.398									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(115-117)Aat>Tat		Hermansky-Pudlak syndrome 5							107.0	111.0	110.0					11																	18332308		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18332308T>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.457A>T	11.37:g.18332308T>A	ENSP00000265967:p.Asn153Tyr					HPS5_ENST00000349215.3_Missense_Mutation_p.N153Y|HPS5_ENST00000531848.1_Missense_Mutation_p.N39Y|HPS5_ENST00000438420.2_Missense_Mutation_p.N39Y	p.N39Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			4	577	-			153					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.115A>T	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.026486	0.54683	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.64085	0.42;0.42;-0.08;1.45	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.195562	0.56097	D	0.000040	T	0.66268	0.2772	L	0.60455	1.87	0.43444	D	0.99562	P	0.44090	0.826	P	0.46362	0.514	T	0.70547	-0.4842	10	0.72032	D	0.01	.	15.8527	0.78947	0.0:0.0:0.0:1.0	.	153	Q9UPZ3	HPS5_HUMAN	Y	39;39;153;39	ENSP00000379552:N39Y;ENSP00000399590:N39Y;ENSP00000265967:N153Y;ENSP00000431758:N39Y	ENSP00000265967:N153Y	N	-	1	0	HPS5	18288884	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	3.763000	0.55257	2.330000	0.79161	0.477000	0.44152	AAT		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		22	50	0	0	0	1	0	22	50				
AMY2B	280	broad.mit.edu	37	1	104117887	104117887	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117887A>G	ENST00000361355.4	+	8	1537	c.921A>G	c.(919-921)gcA>gcG	p.A307A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	307					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTGACAGAGCACTTGTCTTTG	0.413																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(919-921)gcA>gcG		amylase, alpha 2B (pancreatic)							285.0	283.0	283.0					1																	104117887		2203	4298	6501	SO:0001819	synonymous_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117887A>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.921A>G	1.37:g.104117887A>G						AMY2B_ENST00000491397.1_3'UTR	p.A307A	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1537	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	307					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.921A>G	CCDS782.1																																																																																				0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		9	390	0	0	0	1	0	9	390				
TFB2M	64216	broad.mit.edu	37	1	246711852	246711852	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:246711852G>A	ENST00000366514.4	-	6	1038	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	285					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CTTACCCTACGCTTTGGGTTT	0.348																																						ENST00000366514.4																			0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(853-855)Cgt>Tgt		transcription factor B2, mitochondrial							55.0	60.0	58.0					1																	246711852		2202	4300	6502	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246711852G>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.853C>T	1.37:g.246711852G>A	ENSP00000355471:p.Arg285Cys					TFB2M_ENST00000544618.1_3'UTR	p.R285C	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		6	1038	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		285					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.853C>T	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651519	0.47362	.	.	ENSG00000162851	ENST00000366514	T	0.33654	1.4	4.55	-4.47	0.03525	.	2.309490	0.01584	N	0.021253	T	0.39462	0.1079	L	0.36672	1.1	0.09310	N	0.999999	D	0.64830	0.994	P	0.56612	0.802	T	0.46275	-0.9203	10	0.41790	T	0.15	1.5172	6.1396	0.20253	0.2404:0.0:0.163:0.5966	.	285	Q9H5Q4	TFB2M_HUMAN	C	285	ENSP00000355471:R285C	ENSP00000355471:R285C	R	-	1	0	TFB2M	244778475	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.662000	0.05305	-0.453000	0.07076	-0.351000	0.07748	CGT		0.348	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		4	77	0	0	0	1	0	4	77				
HDGFRP2	84717	broad.mit.edu	37	19	4496343	4496343	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4496343C>T	ENST00000301284.4	+	10	1333	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	HDGFRP2_ENST00000586684.1_Silent_p.P423P	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		423					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCACAGAGCCCGCCAGGAAAC	0.627																																						ENST00000301284.4																			0											c.(1267-1269)ccC>ccT									58.0	79.0	72.0					19																	4496343		2022	4178	6200	SO:0001819	synonymous_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4496343C>T																												ENST00000301284.4:c.1269C>T	19.37:g.4496343C>T						HDGFRP2_ENST00000586684.1_Silent_p.P423P	p.P423P	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			10	1333	+			423					I3L080|K7EQZ6|Q96GI5|Q9BW08	Silent	SNP	ENST00000301284.4	37	c.1269C>T	CCDS42472.1																																																																																				0.627	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	23	0	0	0	1	0	7	23				
MCOLN2	255231	broad.mit.edu	37	1	85431281	85431281	+	Missense_Mutation	SNP	G	G	A	rs200938463		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85431281G>A	ENST00000370608.3	-	2	255	c.188C>T	c.(187-189)cCg>cTg	p.P63L	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Missense_Mutation_p.P35L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	63					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAGTTTCCACGGAATCTGGCG	0.413																																						ENST00000370608.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(187-189)cCg>cTg		mucolipin 2		G	LEU/PRO	0,4406		0,0,2203	107.0	106.0	106.0		188	5.9	0.9	1		106	2,8598	2.2+/-6.3	0,2,4298	no	missense	MCOLN2	NM_153259.2	98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/567	85431281	2,13004	2203	4300	6503	SO:0001583	missense	255231					integral to membrane	ion channel activity	g.chr1:85431281G>A	AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.188C>T	1.37:g.85431281G>A	ENSP00000359640:p.Pro63Leu					MCOLN2_ENST00000284027.5_Missense_Mutation_p.P35L|MCOLN2_ENST00000531325.1_5'UTR	p.P63L	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN		all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)	2	255	-			63					A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	ENST00000370608.3	37	c.188C>T	CCDS30762.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759940	0.89932	0.0	2.33E-4	ENSG00000153898	ENST00000370608;ENST00000284027	T;T	0.58940	0.3;0.3	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79337	-0.1845	10	0.87932	D	0	-39.3536	20.5827	0.99408	0.0:0.0:1.0:0.0	.	63	Q8IZK6	MCLN2_HUMAN	L	63;35	ENSP00000359640:P63L;ENSP00000284027:P35L	ENSP00000284027:P35L	P	-	2	0	MCOLN2	85203869	1.000000	0.71417	0.920000	0.36463	0.589000	0.36550	9.342000	0.97044	2.941000	0.99782	0.655000	0.94253	CCG		0.413	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	NM_153259		19	35	0	0	0	1	0	19	35				
VWA2	340706	broad.mit.edu	37	10	116014686	116014686	+	Missense_Mutation	SNP	C	C	T	rs371453578		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:116014686C>T	ENST00000392982.3	+	4	390	c.140C>T	c.(139-141)tCg>tTg	p.S47L	VWA2_ENST00000603594.1_Missense_Mutation_p.S47L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	47					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGGTGCTCGGCTGCAGTG	0.527																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(139-141)tCg>tTg		von Willebrand factor A domain containing 2		C	LEU/SER	0,4406		0,0,2203	230.0	200.0	211.0		140	5.2	1.0	10		211	1,8599	1.2+/-3.3	0,1,4299	no	missense	VWA2	NM_198496.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	47/726	116014686	1,13005	2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116014686C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.140C>T	10.37:g.116014686C>T	ENSP00000376708:p.Ser47Leu					VWA2_ENST00000392982.3_Missense_Mutation_p.S47L	p.S47L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	4	461	+			47					A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.140C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.256395	0.80246	0.0	1.16E-4	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.97642	-4.47	6.17	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.97108	0.9055	M	0.75264	2.295	0.38546	D	0.949348	D;D	0.64830	0.991;0.994	B;P	0.52066	0.364;0.689	D	0.96430	0.9318	10	0.34782	T	0.22	.	14.3123	0.66424	0.1477:0.8523:0.0:0.0	.	47;47	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	L	47	ENSP00000376708:S47L	ENSP00000298715:S47L	S	+	2	0	VWA2	116004676	0.999000	0.42202	0.973000	0.42090	0.381000	0.30169	4.324000	0.59228	2.941000	0.99782	0.655000	0.94253	TCG		0.527	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		8	237	0	0	0	1	0	8	237				
SHANK2	22941	broad.mit.edu	37	11	70507841	70507841	+	Intron	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:70507841G>A	ENST00000423696.2	-	6	753				SHANK2_ENST00000409161.1_Missense_Mutation_p.A10V|SHANK2_ENST00000357171.3_Missense_Mutation_p.A11V|SHANK2_ENST00000449116.2_Missense_Mutation_p.A11V|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449833.2_Missense_Mutation_p.A11V|SHANK2_ENST00000409530.1_Missense_Mutation_p.A10V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATCACCGCGGCCGCTCCTCC	0.557																																						ENST00000449833.2																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(31-33)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							111.0	116.0	114.0					11																	70507841		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507841G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-58C>T	11.37:g.70507841G>A						SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.A11V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A10V|SHANK2_ENST00000357171.3_Missense_Mutation_p.A11V|SHANK2_ENST00000409530.1_Missense_Mutation_p.A10V|SHANK2_ENST00000338508.4_Intron	p.A11V	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		1	82	-			0					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.32C>T		.	.	.	.	.	.	.	.	.	.	.	19.58	3.854036	0.71719	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.60424	2.21;2.21;0.58;0.19;0.58	4.56	4.56	0.56223	.	.	.	.	.	T	0.47783	0.1464	N	0.22421	0.69	0.30521	N	0.768393	P;P	0.40180	0.58;0.705	B;B	0.38378	0.14;0.272	T	0.56535	-0.7963	9	0.62326	D	0.03	.	17.342	0.87299	0.0:0.0:1.0:0.0	.	11;11	B7ZKU9;Q9UPX8-4	.;.	V	11;10;10;11;11	ENSP00000399423:A11V;ENSP00000386491:A10V;ENSP00000387324:A10V;ENSP00000394939:A11V;ENSP00000349694:A11V	ENSP00000349694:A11V	A	-	2	0	SHANK2	70185489	1.000000	0.71417	0.141000	0.22245	0.957000	0.61999	5.742000	0.68646	2.081000	0.62600	0.491000	0.48974	GCC		0.557	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		9	191	0	0	0	1	0	9	191				
KIF16B	55614	broad.mit.edu	37	20	16360535	16360535	+	Silent	SNP	G	G	A	rs367620646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16360535G>A	ENST00000354981.2	-	19	2269	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	KIF16B_ENST00000355755.3_Silent_p.R704R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.R704R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	704	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTCTTGGACGCGGAGAAAGG	0.443																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2110-2112)cgC>cgT		kinesin family member 16B		G	,,	0,4406		0,0,2203	150.0	134.0	139.0		2112,2112,2112	-10.8	0.0	20		139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	704/1267,704/1393,704/1318	16360535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360535G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2112C>T	20.37:g.16360535G>A						KIF16B_ENST00000408042.1_Silent_p.R704R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.R704R	p.R704R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2269	-			704			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.2112C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.722132	0.00700	0.0	1.16E-4	ENSG00000089177	ENST00000450176	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.14356	0.0347	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.09684	-1.0663	4	.	.	.	.	1.9452	0.03355	0.3784:0.1339:0.0912:0.3965	.	.	.	.	V	139	.	.	A	-	2	0	KIF16B	16308535	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.702000	0.01901	-2.357000	0.00612	-0.832000	0.03076	GCG		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		10	105	0	0	0	1	0	10	105				
CDH17	1015	broad.mit.edu	37	8	95188892	95188892	+	Missense_Mutation	SNP	C	C	T	rs201617285		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:95188892C>T	ENST00000027335.3	-	5	425	c.301G>A	c.(301-303)Gct>Act	p.A101T	CDH17_ENST00000441892.2_Missense_Mutation_p.A101T|CDH17_ENST00000450165.2_Missense_Mutation_p.A101T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTCCATTAGCGTCCAGGGCT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		23245	0.0		0.001	False		,,,				2504	0.0					ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(301-303)Gct>Act		cadherin 17, LI cadherin (liver-intestine)							117.0	101.0	107.0					8																	95188892		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95188892C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.301G>A	8.37:g.95188892C>T	ENSP00000027335:p.Ala101Thr					CDH17_ENST00000441892.2_Missense_Mutation_p.A101T|CDH17_ENST00000450165.2_Missense_Mutation_p.A101T	p.A101T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	425	-	Breast(36;4.65e-06)		101			Cadherin 1.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.301G>A	CCDS6260.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.184	1.024354	0.19433	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165;ENST00000521491	T;T;T;T	0.60920	0.15;4.2;0.15;0.65	5.93	2.98	0.34508	Cadherin (3);Cadherin-like (1);	0.382155	0.22553	N	0.058577	T	0.39835	0.1093	L	0.41906	1.305	0.22989	N	0.998469	B;D	0.54964	0.037;0.969	B;B	0.39258	0.012;0.295	T	0.27054	-1.0085	10	0.14656	T	0.56	-9.1321	7.9908	0.30239	0.2893:0.6313:0.0:0.0793	.	101;101	E7EN24;Q12864	.;CAD17_HUMAN	T	101	ENSP00000027335:A101T;ENSP00000392811:A101T;ENSP00000401468:A101T;ENSP00000428189:A101T	ENSP00000027335:A101T	A	-	1	0	CDH17	95258068	0.640000	0.27243	0.082000	0.20525	0.106000	0.19336	0.977000	0.29475	0.323000	0.23307	0.655000	0.94253	GCT		0.453	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		23	39	0	0	0	1	0	23	39				
C17orf75	64149	broad.mit.edu	37	17	30666926	30666926	+	Missense_Mutation	SNP	C	C	T	rs576304862		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:30666926C>T	ENST00000577809.1	-	3	302	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	C17orf75_ENST00000225805.4_Missense_Mutation_p.E85K|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	85										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCTCCACTTCGGATGGTAGA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19654	0.0		0.0	False		,,,				2504	0.0					ENST00000577809.1																			0				ovary(1)	1						c.(253-255)Gaa>Aaa		chromosome 17 open reading frame 75							95.0	92.0	93.0					17																	30666926		1928	4141	6069	SO:0001583	missense	64149				spermatogenesis			g.chr17:30666926C>T	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.253G>A	17.37:g.30666926C>T	ENSP00000464275:p.Glu85Lys					RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E85K	p.E85K	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	302	-		Breast(31;0.116)|Ovarian(249;0.182)	85					Q7Z2H4	Missense_Mutation	SNP	ENST00000577809.1	37	c.253G>A	CCDS58537.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636406	0.67130	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.80560	-0.1328	9	0.87932	D	0	-19.2188	19.3608	0.94436	0.0:1.0:0.0:0.0	.	85	Q9HAS0	NJMU_HUMAN	K	85	.	ENSP00000225805:E85K	E	-	1	0	C17orf75	27691039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.265000	0.78442	2.572000	0.86782	0.650000	0.86243	GAA		0.458	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		4	74	0	0	0	1	0	4	74				
KSR2	283455	broad.mit.edu	37	12	118199031	118199031	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:118199031C>T	ENST00000339824.5	-	4	1498	c.771G>A	c.(769-771)gcG>gcA	p.A257A	KSR2_ENST00000425217.1_Silent_p.A228A			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	257	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCGGACCGCGTGCCGCT	0.736																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(682-684)gcG>gcA		kinase suppressor of ras 2							33.0	43.0	40.0					12																	118199031		1833	4033	5866	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199031C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.771G>A	12.37:g.118199031C>T						KSR2_ENST00000339824.5_Silent_p.A257A	p.A228A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	738	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		257			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.684G>A																																																																																					0.736	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		63	148	0	0	0	1	0	63	148				
CNOT3	4849	broad.mit.edu	37	19	54646863	54646863	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54646863G>A	ENST00000406403.1	+	2	1637	c.34G>A	c.(34-36)Gat>Aat	p.D12N	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.D12N			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.D12H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537																																						ENST00000406403.1																			1	Substitution - Missense(1)	p.D12H(1)	urinary_tract(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(34-36)Gat>Aat		CCR4-NOT transcription complex, subunit 3							189.0	186.0	187.0					19																	54646863		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646863G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.34G>A	19.37:g.54646863G>A	ENSP00000383954:p.Asp12Asn					CNOT3_ENST00000221232.5_Missense_Mutation_p.D12N|CNOT3_ENST00000358389.3_5'UTR	p.D12N			O75175	CNOT3_HUMAN			2	1637	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		12					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.34G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354605	0.95854	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.69561	-0.41;-0.41	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.85710	2.77	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.69824	0.966;0.95	D	0.86390	0.1735	10	0.87932	D	0	-19.6694	17.5375	0.87837	0.0:0.0:1.0:0.0	.	12;12	B7Z6J7;O75175	.;CNOT3_HUMAN	N	12	ENSP00000221232:D12N;ENSP00000383954:D12N	ENSP00000221232:D12N	D	+	1	0	CNOT3	59338675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAT		0.537	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		61	170	0	0	0	1	0	61	170				
PGBD2	267002	broad.mit.edu	37	1	249211136	249211136	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211136G>A	ENST00000329291.5	+	3	500	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.R115H	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAGATATTCGTCCAGACTTT	0.493																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(343-345)cGt>cAt		piggyBac transposable element derived 2							52.0	58.0	56.0					1																	249211136		2203	4300	6503	SO:0001583	missense	0							g.chr1:249211136G>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.353G>A	1.37:g.249211136G>A	ENSP00000331643:p.Arg118His					PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.R118H|PGBD2_ENST00000462488.1_Intron	p.R115H			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	599	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	118					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.344G>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	5.946	0.358501	0.11239	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.11821	2.74;2.74	4.04	0.983	0.19767	.	.	.	.	.	T	0.10121	0.0248	L	0.36672	1.1	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.001	T	0.30001	-0.9993	9	0.45353	T	0.12	-23.2531	5.7119	0.17938	0.3785:0.0:0.6215:0.0	.	115;118	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	H	118;115	ENSP00000331643:R118H;ENSP00000439950:R115H	ENSP00000331643:R118H	R	+	2	0	PGBD2	247177759	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.066000	0.03454	0.100000	0.17581	0.655000	0.94253	CGT		0.493	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			15	56	0	0	0	1	0	15	56				
CCR8	1237	broad.mit.edu	37	3	39373861	39373861	+	Silent	SNP	C	C	T	rs201075392		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:39373861C>T	ENST00000326306.4	+	2	177	c.39C>T	c.(37-39)acC>acT	p.T13T	CCR8_ENST00000414803.1_Silent_p.T13T|CCR8_ENST00000545843.1_5'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	13					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAACAGTGACCGACTACTACT	0.438																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(37-39)acC>acT		chemokine (C-C motif) receptor 8							151.0	136.0	141.0					3																	39373861		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39373861C>T	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.39C>T	3.37:g.39373861C>T						CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Silent_p.T13T	p.T13T	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	177	+			13					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.39C>T	CCDS2684.1																																																																																				0.438	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		36	96	0	0	0	1	0	36	96				
GMPS	8833	broad.mit.edu	37	3	155649577	155649577	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:155649577C>T	ENST00000496455.2	+	13	1919	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y	GMPS_ENST00000295920.7_Silent_p.Y429Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	528					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CCTACAGTTACGTGTGTGGAA	0.353			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1582-1584)taC>taT		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						173.0	157.0	162.0					3																	155649577		1839	4084	5923	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155649577C>T	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1584C>T	3.37:g.155649577C>T						GMPS_ENST00000295920.7_Silent_p.Y429Y	p.Y528Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		13	1919	+			528					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.1584C>T	CCDS46941.1																																																																																				0.353	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			37	116	0	0	0	1	0	37	116				
COLGALT1	79709	broad.mit.edu	37	19	17688252	17688252	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17688252G>A	ENST00000252599.4	+	8	1229	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	370					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										ATCGAGTGCCGGCTGGTGGAG	0.697																																						ENST00000252599.4																			0											c.(1108-1110)cGg>cAg		collagen beta(1-O)galactosyltransferase 1							4.0	6.0	5.0					19																	17688252		2109	4080	6189	SO:0001583	missense	79709							g.chr19:17688252G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1109G>A	19.37:g.17688252G>A	ENSP00000252599:p.Arg370Gln						p.R370Q	NM_024656.2	NP_078932.2					8	1229	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1109G>A	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477431	0.26511	.	.	ENSG00000130309	ENST00000379714;ENST00000252599	T	0.76060	-0.99	4.45	-2.49	0.06403	.	0.295081	0.34628	N	0.003817	T	0.53578	0.1805	L	0.34521	1.04	0.20196	N	0.99992	B;B	0.12630	0.001;0.006	B;B	0.13407	0.004;0.009	T	0.31696	-0.9934	10	0.33940	T	0.23	-24.6399	4.3505	0.11153	0.5805:0.0:0.2457:0.1738	.	98;370	E9PC06;Q8NBJ5	.;GT251_HUMAN	Q	98;370	ENSP00000252599:R370Q	ENSP00000252599:R370Q	R	+	2	0	GLT25D1	17549252	0.001000	0.12720	0.037000	0.18230	0.004000	0.04260	0.690000	0.25451	-0.186000	0.10533	-0.293000	0.09583	CGG		0.697	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		3	7	0	0	0	1	0	3	7				
ITGA2B	3674	broad.mit.edu	37	17	42457470	42457470	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42457470C>T	ENST00000262407.5	-	17	1683	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551Q|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	551					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGCAGCACCCGCCGGCCCTG	0.672																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1651-1653)cGg>cAg		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						24.0	29.0	27.0					17																	42457470		2192	4268	6460	SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42457470C>T		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1652G>A	17.37:g.42457470C>T	ENSP00000262407:p.Arg551Gln					ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551Q	p.R551Q	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	17	1683	-		Prostate(33;0.0181)	551					B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	c.1652G>A	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	C	36	5.612536	0.96637	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.79940	-1.32;-1.32	4.84	4.84	0.62591	Integrin alpha-2 (1);	0.000000	0.32244	N	0.006375	D	0.91717	0.7381	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93506	0.6849	10	0.87932	D	0	.	16.8865	0.86077	0.0:1.0:0.0:0.0	.	149;551	Q59FA8;P08514	.;ITA2B_HUMAN	Q	551	ENSP00000262407:R551Q;ENSP00000340536:R551Q	ENSP00000262407:R551Q	R	-	2	0	ITGA2B	39812996	0.924000	0.31332	0.984000	0.44739	0.951000	0.60555	6.021000	0.70832	2.508000	0.84585	0.555000	0.69702	CGG		0.672	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			21	38	0	0	0	1	0	21	38				
PF4	5196	broad.mit.edu	37	4	74846961	74846961	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:74846961G>A	ENST00000296029.3	-	3	436	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	89					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CTTGTACAGCGGGGCTTGCAG	0.423																																						ENST00000296029.3																			0				kidney(1)|lung(1)	2						c.(265-267)cCg>cTg		platelet factor 4	Drotrecogin alfa(DB00055)						85.0	91.0	89.0					4																	74846961		2203	4300	6503	SO:0001583	missense	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74846961G>A	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.266C>T	4.37:g.74846961G>A	ENSP00000296029:p.Pro89Leu						p.P89L	NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		3	436	-	Breast(15;0.00136)		89					Q53X61|Q9UC64|Q9UC65	Missense_Mutation	SNP	ENST00000296029.3	37	c.266C>T	CCDS3562.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563935	0.27915	.	.	ENSG00000163737	ENST00000296029	T	0.05717	3.4	2.48	1.57	0.23409	Chemokine interleukin-8-like domain (3);	0.694356	0.14652	N	0.306559	T	0.08980	0.0222	M	0.75150	2.29	0.09310	N	0.999998	B	0.27932	0.194	B	0.26094	0.066	T	0.17868	-1.0355	10	0.56958	D	0.05	.	6.9832	0.24713	0.0:0.2873:0.7127:0.0	.	89	P02776	PLF4_HUMAN	L	89	ENSP00000296029:P89L	ENSP00000296029:P89L	P	-	2	0	PF4	75065825	0.000000	0.05858	0.001000	0.08648	0.405000	0.30901	0.448000	0.21726	0.335000	0.23614	0.305000	0.20034	CCG		0.423	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			24	64	0	0	0	1	0	24	64				
USP42	84132	broad.mit.edu	37	7	6193761	6193761	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6193761C>T	ENST00000306177.5	+	15	2734	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	859	Pro-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGTCCGGCTCCGCCTGCGCGG	0.716																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(2575-2577)cCg>cTg		ubiquitin specific peptidase 42							17.0	22.0	21.0					7																	6193761		1833	4006	5839	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6193761C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2576C>T	7.37:g.6193761C>T	ENSP00000301962:p.Pro859Leu						p.P859L	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	15	2734	+		Ovarian(82;0.0423)	859			Pro-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.2576C>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251179	0.80135	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.19669	2.13;2.56	5.2	5.2	0.72013	.	0.165438	0.43919	D	0.000510	T	0.33904	0.0879	L	0.32530	0.975	0.36522	D	0.870206	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.11767	-1.0574	10	0.32370	T	0.25	.	14.1172	0.65161	0.0:1.0:0.0:0.0	.	859;859	Q9H9J4-2;Q9H9J4	.;UBP42_HUMAN	L	859;705	ENSP00000301962:P859L;ENSP00000408217:P705L	ENSP00000301962:P859L	P	+	2	0	USP42	6160286	0.010000	0.17322	0.236000	0.24074	0.007000	0.05969	1.410000	0.34691	2.706000	0.92434	0.655000	0.94253	CCG		0.716	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		22	60	0	0	0	1	0	22	60				
RAD51	5888	broad.mit.edu	37	15	40993313	40993313	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40993313C>A	ENST00000267868.3	+	3	407	c.139C>A	c.(139-141)Cat>Aat	p.H47N	RAD51_ENST00000382643.3_Missense_Mutation_p.H47N|RAD51_ENST00000423169.2_Missense_Mutation_p.H47N|RAD51_ENST00000532743.1_Missense_Mutation_p.H47N|RAD51_ENST00000557850.1_Missense_Mutation_p.H47N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	47					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGCTGGATTCCATACTGTGGA	0.383								Homologous recombination																														ENST00000267868.3																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9						c.(139-141)Cat>Aat	Homologous recombination	RAD51 recombinase							107.0	110.0	109.0					15																	40993313		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:40993313C>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.139C>A	15.37:g.40993313C>A	ENSP00000267868:p.His47Asn					RAD51_ENST00000532743.1_Missense_Mutation_p.H47N|RAD51_ENST00000557850.1_Missense_Mutation_p.H47N|RAD51_ENST00000382643.3_Missense_Mutation_p.H47N|RAD51_ENST00000423169.2_Missense_Mutation_p.H47N	p.H47N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	3	407	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	47					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.139C>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641616	0.67244	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643;ENST00000526763	T;T;T;T;T;T	0.52526	1.02;0.66;1.06;1.17;1.17;1.02	6.04	6.04	0.98038	DNA repair Rad51/transcription factor NusA, alpha-helical (1);	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	N	0.20610	0.595	0.80722	D	1	B;B;B	0.13594	0.008;0.002;0.002	B;B;B	0.20955	0.032;0.005;0.002	T	0.10613	-1.0622	10	0.23891	T	0.37	-15.5731	20.5948	0.99439	0.0:1.0:0.0:0.0	.	47;47;47	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	N	47	ENSP00000432759:H47N;ENSP00000406602:H47N;ENSP00000267868:H47N;ENSP00000433924:H47N;ENSP00000372088:H47N;ENSP00000431897:H47N	ENSP00000267868:H47N	H	+	1	0	RAD51	38780605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.873000	0.98535	0.563000	0.77884	CAT		0.383	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1	NM_002875, NM_133487		31	69	1	0	4.74835e-14	1	4.95919e-14	31	69				
GDF10	2662	broad.mit.edu	37	10	48428868	48428868	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:48428868G>A	ENST00000224605.2	-	2	1283	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	340					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.R340C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCTTCCTGCGGTCTTTGCGC	0.662																																						ENST00000224605.2																			1	Substitution - Missense(1)	p.R340C(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1018-1020)Cgc>Tgc		growth differentiation factor 10							51.0	47.0	48.0					10																	48428868		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428868G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1018C>T	10.37:g.48428868G>A	ENSP00000224605:p.Arg340Cys						p.R340C	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1283	-			340					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1018C>T	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133541	0.56828	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.76448	-1.02	5.3	4.33	0.51752	.	0.439851	0.25890	N	0.027638	D	0.84575	0.5502	M	0.66939	2.045	0.35735	D	0.818225	D;D	0.89917	0.999;1.0	P;D	0.64687	0.759;0.928	D	0.88597	0.3147	10	0.87932	D	0	.	12.3603	0.55199	0.0:0.0:0.7419:0.2581	.	150;340	Q8N6T2;P55107	.;BMP3B_HUMAN	C	150;340	ENSP00000224605:R340C	ENSP00000224605:R340C	R	-	1	0	GDF10	48048874	0.998000	0.40836	0.657000	0.29651	0.892000	0.51952	2.055000	0.41345	2.653000	0.90120	0.561000	0.74099	CGC		0.662	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		23	37	0	0	0	1	0	23	37				
KIF27	55582	broad.mit.edu	37	9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A	rs370478477		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:86465140G>A	ENST00000297814.2	-	16	3573	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R1078W|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATTATCCCGTTCCAGAACT	0.383																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3430-3432)Cgg>Tgg		kinesin family member 27		G	TRP/ARG	0,4406		0,0,2203	96.0	90.0	92.0		3430	3.7	1.0	9		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF27	NM_017576.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1144/1402	86465140	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86465140G>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3430C>T	9.37:g.86465140G>A	ENSP00000297814:p.Arg1144Trp					RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R1078W|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047W	p.R1144W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			16	3573	-			1144					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3430C>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820318	0.71028	0.0	1.16E-4	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.70516	-0.45;-0.49;-0.37	4.58	3.65	0.41850	.	0.596048	0.14563	N	0.311905	T	0.65637	0.2710	L	0.27053	0.805	0.26047	N	0.981532	D;D;D	0.71674	0.998;0.987;0.978	P;P;B	0.50049	0.629;0.528;0.328	T	0.58923	-0.7550	10	0.87932	D	0	.	11.7378	0.51775	0.0:0.0:0.6793:0.3207	.	1047;1078;1144	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	1144;1078;1047	ENSP00000297814:R1144W;ENSP00000401688:R1078W;ENSP00000333928:R1047W	ENSP00000297814:R1144W	R	-	1	2	KIF27	85654960	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.368000	0.44222	1.086000	0.41228	0.436000	0.28706	CGG		0.383	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		32	69	0	0	0	1	0	32	69				
KCNH4	23415	broad.mit.edu	37	17	40330128	40330128	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40330128T>C	ENST00000264661.3	-	4	907	c.575A>G	c.(574-576)aAg>aGg	p.K192R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K192R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	192					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTATTGGCCTTCATGCCTCC	0.607																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(574-576)aAg>aGg		potassium voltage-gated channel, subfamily H (eag-related), member 4							83.0	92.0	89.0					17																	40330128		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40330128T>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.575A>G	17.37:g.40330128T>C	ENSP00000264661:p.Lys192Arg					KCNH4_ENST00000607371.1_Missense_Mutation_p.K192R	p.K192R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	4	907	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	192						Missense_Mutation	SNP	ENST00000264661.3	37	c.575A>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598913	0.66332	.	.	ENSG00000089558	ENST00000264661	D	0.98978	-5.29	4.86	3.77	0.43336	.	0.000000	0.42964	D	0.000626	D	0.98617	0.9537	M	0.61703	1.905	0.35357	D	0.787857	D	0.59357	0.985	P	0.58660	0.843	D	0.99946	1.1469	10	0.54805	T	0.06	.	11.1139	0.48249	0.0:0.0:0.1552:0.8448	.	192	Q9UQ05	KCNH4_HUMAN	R	192	ENSP00000264661:K192R	ENSP00000264661:K192R	K	-	2	0	KCNH4	37583654	1.000000	0.71417	0.879000	0.34478	0.833000	0.47200	4.287000	0.59001	0.865000	0.35603	0.383000	0.25322	AAG		0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		39	108	0	0	0	1	0	39	108				
POLQ	10721	broad.mit.edu	37	3	121251942	121251942	+	Silent	SNP	G	G	A	rs556803867	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:121251942G>A	ENST00000264233.5	-	6	983	c.855C>T	c.(853-855)acC>acT	p.T285T	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	285	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCGAAAGTCGGTATGGTAGA	0.448								DNA polymerases (catalytic subunits)					G|||	8	0.00159744	0.0	0.0	5008	,	,		16427	0.0		0.0	False		,,,				2504	0.0082				Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(853-855)acC>acT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							106.0	102.0	104.0					3																	121251942		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121251942G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.855C>T	3.37:g.121251942G>A						POLQ_ENST00000488282.1_5'UTR	p.T285T	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	6	983	-			285			Helicase ATP-binding.		O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.855C>T	CCDS33833.1																																																																																				0.448	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		19	70	0	0	0	1	0	19	70				
RBBP6	5930	broad.mit.edu	37	16	24574974	24574974	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24574974A>G	ENST00000319715.4	+	13	1941	c.1509A>G	c.(1507-1509)ccA>ccG	p.P503P	RBBP6_ENST00000348022.2_Silent_p.P503P|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	503					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTGGTCGACCAGGCTGGGAAC	0.383																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(1507-1509)ccA>ccG		retinoblastoma binding protein 6							102.0	102.0	102.0					16																	24574974		2197	4300	6497	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24574974A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1509A>G	16.37:g.24574974A>G						RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.P503P	p.P503P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	13	1941	+			503					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.1509A>G	CCDS10621.1																																																																																				0.383	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	34	0	0	0	1	0	10	34				
EPHX1	2052	broad.mit.edu	37	1	226027660	226027660	+	Missense_Mutation	SNP	G	G	A	rs45449793	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226027660G>A	ENST00000366837.4	+	6	1049	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.V285I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	285			V -> L (in dbSNP:rs45449793). {ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTGTACCCCGTCAAGGAGAA	0.557																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(853-855)Gtc>Atc		epoxide hydrolase 1, microsomal (xenobiotic)							163.0	142.0	149.0					1																	226027660		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226027660G>A	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.853G>A	1.37:g.226027660G>A	ENSP00000355802:p.Val285Ile					EPHX1_ENST00000272167.5_Missense_Mutation_p.V285I	p.V285I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			6	1049	+	Breast(184;0.197)		285		V -> L (in dbSNP:rs45449793).			B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.853G>A	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241910	0.39598	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61158	0.13;0.13	5.57	-3.54	0.04653	Alpha/beta hydrolase fold-1 (1);	0.646762	0.16256	N	0.222493	T	0.39886	0.1095	L	0.33485	1.01	0.09310	N	1	B	0.29270	0.24	B	0.26202	0.067	T	0.22382	-1.0218	10	0.24483	T	0.36	-23.8775	13.1536	0.59503	0.0:0.0614:0.5418:0.3969	.	285	P07099	HYEP_HUMAN	I	285	ENSP00000272167:V285I;ENSP00000355802:V285I	ENSP00000272167:V285I	V	+	1	0	EPHX1	224094283	0.764000	0.28473	0.000000	0.03702	0.113000	0.19764	0.588000	0.23924	-0.480000	0.06803	-0.362000	0.07510	GTC		0.557	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		41	80	0	0	0	1	0	41	80				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	78	0	0	0	1	0	5	78				
MTBP	27085	broad.mit.edu	37	8	121528318	121528318	+	Silent	SNP	G	G	A	rs369409697		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121528318G>A	ENST00000305949.1	+	18	2178	c.2133G>A	c.(2131-2133)tcG>tcA	p.S711S		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	711	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTAGTTTCGTCAGATCCTG	0.423																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2131-2133)tcG>tcA		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa		G		0,4406		0,0,2203	108.0	102.0	104.0		2133	1.8	0.3	8		104	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	MTBP	NM_022045.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		711/905	121528318	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121528318G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2133G>A	8.37:g.121528318G>A							p.S711S	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		18	2178	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		711			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.2133G>A	CCDS6333.1																																																																																				0.423	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		5	121	0	0	0	1	0	5	121				
KDM4A	9682	broad.mit.edu	37	1	44156708	44156708	+	Missense_Mutation	SNP	C	C	T	rs371661735		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:44156708C>T	ENST00000372396.3	+	14	2364	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	744					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTGCAGCGTCCGGGTCCATGC	0.567																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2230-2232)Cgg>Tgg		lysine (K)-specific demethylase 4A		C	TRP/ARG	0,4406		0,0,2203	172.0	166.0	168.0		2230	4.0	1.0	1		168	2,8598	2.2+/-6.3	0,2,4298	no	missense	KDM4A	NM_014663.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	744/1065	44156708	2,13004	2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156708C>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2230C>T	1.37:g.44156708C>T	ENSP00000361473:p.Arg744Trp						p.R744W	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			14	2364	+			744					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2230C>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761064	0.69763	0.0	2.33E-4	ENSG00000066135	ENST00000372396	T	0.16073	2.37	5.01	3.98	0.46160	Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.106858	0.64402	D	0.000003	T	0.22003	0.0530	L	0.43923	1.385	0.42735	D	0.993725	D	0.65815	0.995	P	0.54965	0.765	T	0.00989	-1.1489	10	0.66056	D	0.02	-15.1865	5.8339	0.18597	0.0:0.7071:0.0:0.2929	.	744	O75164	KDM4A_HUMAN	W	744	ENSP00000361473:R744W	ENSP00000361473:R744W	R	+	1	2	KDM4A	43929295	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	2.996000	0.49449	2.328000	0.79073	0.563000	0.77884	CGG		0.567	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		56	136	0	0	0	1	0	56	136				
MDC1	9656	broad.mit.edu	37	6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	rs148600920		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30670918C>T	ENST00000376406.3	-	12	6475	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1943	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGATTCCCCGCCCCAGGGC	0.597								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		14143	0.0		0.001	False		,,,				2504	0.0					ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5827-5829)cGg>cAg	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1		C	GLN/ARG	1,3015		0,1,1507	58.0	53.0	55.0		5828	3.7	1.0	6	dbSNP_134	55	5,5411		0,5,2703	yes	missense	MDC1	NM_014641.2	43	0,6,4210	TT,TC,CC		0.0923,0.0332,0.0712	probably-damaging	1943/2090	30670918	6,8426	1508	2708	4216	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30670918C>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5828G>A	6.37:g.30670918C>T	ENSP00000365588:p.Arg1943Gln					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q	p.R1943Q	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			12	6475	-			1943			BRCT 1.|Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5828G>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361982	0.82353	3.32E-4	9.23E-4	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.86497	-2.13;-2.13	5.45	3.65	0.41850	BRCT (3);	0.280924	0.19743	N	0.107076	D	0.83496	0.5267	M	0.62154	1.92	0.32702	N	0.512756	D;D	0.89917	0.999;1.0	P;P	0.59643	0.688;0.861	T	0.77691	-0.2493	10	0.22109	T	0.4	-8.5462	7.4979	0.27500	0.0:0.7423:0.0:0.2577	.	1943;920	Q14676;Q14676-4	MDC1_HUMAN;.	Q	1943;1679;1656;1509	ENSP00000365588:R1943Q;ENSP00000365587:R1679Q	ENSP00000365587:R1679Q	R	-	2	0	MDC1	30778897	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	2.103000	0.41806	0.773000	0.33404	0.555000	0.69702	CGG		0.597	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		5	61	0	0	0	1	0	5	61				
XIRP2	129446	broad.mit.edu	37	2	168067347	168067347	+	Missense_Mutation	SNP	G	G	A	rs534855387		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:168067347G>A	ENST00000409728.1	+	5	853	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000409195.1_Missense_Mutation_p.R222Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.R222Q|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409756.2_Missense_Mutation_p.R222Q|XIRP2_ENST00000409043.1_Missense_Mutation_p.R222Q	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	47					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGCGGATGGCGAGG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		15841	0.0		0.0	False		,,,				2504	0.001					ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(664-666)cGg>cAg		xin actin-binding repeat containing 2							103.0	109.0	107.0					2																	168067347		2067	4205	6272	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168067347G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.764G>A	2.37:g.168067347G>A	ENSP00000386619:p.Arg255Gln					XIRP2_ENST00000409043.1_Missense_Mutation_p.R222Q|XIRP2_ENST00000420519.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409605.1_5'UTR|XIRP2_ENST00000295237.9_Missense_Mutation_p.R222Q|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.R222Q	p.R222Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			4	754	+			47					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.665G>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788937	0.90367	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;T;T;D;T;T	0.81499	-1.5;-1.43;3.91;-1.5;-1.43;3.91	5.93	5.93	0.95920	.	0.000000	0.56097	D	0.000021	D	0.87625	0.6224	L	0.55481	1.735	0.35456	D	0.79612	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88596	0.3146	10	0.39692	T	0.17	-10.9222	17.8445	0.88725	0.0:0.0:1.0:0.0	.	222;255;47	A4UGR9-4;A4UGR9-6;A4UGR9-3	.;.;.	Q	222;255;222;222;255;222	ENSP00000386454:R222Q;ENSP00000386619:R255Q;ENSP00000386840:R222Q;ENSP00000386724:R222Q;ENSP00000415541:R255Q;ENSP00000295237:R222Q	ENSP00000295237:R222Q	R	+	2	0	XIRP2	167775593	1.000000	0.71417	0.996000	0.52242	0.573000	0.36030	6.030000	0.70903	2.808000	0.96608	0.655000	0.94253	CGG		0.557	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		44	116	0	0	0	1	0	44	116				
BRICD5	283870	broad.mit.edu	37	16	2259563	2259563	+	Nonsense_Mutation	SNP	G	G	A	rs374169284		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2259563G>A	ENST00000562360.1	-	5	582	c.583C>T	c.(583-585)Cga>Tga	p.R195*	BRICD5_ENST00000328540.3_Nonsense_Mutation_p.R195*|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	195						integral component of membrane (GO:0016021)		p.R195*(1)									CCCTCTGCTCGCCGGGCCCAG	0.697																																						ENST00000328540.3																			1	Substitution - Nonsense(1)	p.R195*(1)	endometrium(1)								c.(583-585)Cga>Tga		BRICHOS domain containing 5		G	stop/ARG	1,4393		0,1,2196	47.0	59.0	55.0		583	0.7	0.0	16		55	0,8592		0,0,4296	no	stop-gained	C16orf79	NM_182563.3		0,1,6492	AA,AG,GG		0.0,0.0228,0.0077		195/229	2259563	1,12985	2197	4296	6493	SO:0001587	stop_gained	283870							g.chr16:2259563G>A	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.583C>T	16.37:g.2259563G>A	ENSP00000455052:p.Arg195*					BRICD5_ENST00000562360.1_Nonsense_Mutation_p.R195*	p.R195*	NM_182563.3	NP_872369.2					5	1699	-								C9J7K2|Q8IXU9	Nonsense_Mutation	SNP	ENST00000562360.1	37	c.583C>T	CCDS10463.1	.	.	.	.	.	.	.	.	.	.	G	44	10.942214	0.99492	2.28E-4	0.0	ENSG00000182685	ENST00000328540	.	.	.	5.95	0.661	0.17874	.	0.332684	0.30528	N	0.009425	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8448	3.9722	0.09458	0.2687:0.0:0.4298:0.3015	.	.	.	.	X	195	.	ENSP00000332389:R195X	R	-	1	2	C16orf79	2199564	0.020000	0.18652	0.002000	0.10522	0.063000	0.16089	2.120000	0.41968	0.831000	0.34780	0.655000	0.94253	CGA		0.697	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		27	154	0	0	0	1	0	27	154				
ARHGAP44	9912	broad.mit.edu	37	17	12888013	12888013	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:12888013C>T	ENST00000379672.5	+	20	2405	c.2105C>T	c.(2104-2106)tCg>tTg	p.S702L	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S702L|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S696L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	702					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCTTGGCCTCGGGCCAGCTC	0.652																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(2104-2106)tCg>tTg		Rho GTPase activating protein 44							26.0	30.0	29.0					17																	12888013		1939	4141	6080	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12888013C>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.2105C>T	17.37:g.12888013C>T	ENSP00000368994:p.Ser702Leu					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S702L|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S696L	p.S702L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			20	2405	+			702					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.2105C>T	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004844	0.74932	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T;T	0.64085	2.1;2.07;-0.08	5.37	5.37	0.77165	.	0.139728	0.50627	D	0.000116	T	0.59569	0.2203	N	0.19112	0.55	0.41415	D	0.987762	P;P;D;P	0.62365	0.553;0.826;0.991;0.553	B;B;P;B	0.52109	0.079;0.255;0.69;0.079	T	0.65356	-0.6188	10	0.62326	D	0.03	.	16.6075	0.84834	0.0:1.0:0.0:0.0	.	696;160;358;702	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	L	702;358;696;160	ENSP00000368994:S702L;ENSP00000342566:S696L;ENSP00000262444:S160L	ENSP00000262444:S160L	S	+	2	0	ARHGAP44	12828738	1.000000	0.71417	0.920000	0.36463	0.921000	0.55340	5.292000	0.65673	2.511000	0.84671	0.555000	0.69702	TCG		0.652	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		10	27	0	0	0	1	0	10	27				
TTN	7273	broad.mit.edu	37	2	179412307	179412307	+	Missense_Mutation	SNP	C	C	T	rs181104321	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179412307C>T	ENST00000591111.1	-	289	89347	c.89123G>A	c.(89122-89124)cGt>cAt	p.R29708H	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22409H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28781H|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22476H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31349H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22284H			Q8WZ42	TITIN_HUMAN	titin	29708	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCGATTCACGCTTTTCAAC	0.423													C|||	6	0.00119808	0.0008	0.0014	5008	,	,		20556	0.0		0.004	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94045-94047)cGt>cAt		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	4,3864		0,4,1930	102.0	102.0	102.0		66851,86342,67226,67427	5.9	1.0	2		102	7,8257		0,7,4125	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,11,6055	TT,TC,CC		0.0847,0.1034,0.0907	probably-damaging,probably-damaging,probably-damaging,probably-damaging	22284/26927,28781/33424,22409/27052,22476/27119	179412307	11,12121	1934	4132	6066	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412307C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89123G>A	2.37:g.179412307C>T	ENSP00000465570:p.Arg29708His					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22409H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22476H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28781H|TTN_ENST00000460472.2_Missense_Mutation_p.R22284H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29708H	p.R31349H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	94270	-			29708			Fibronectin type-III 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94046G>A		4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	20.7	4.034167	0.75617	0.001034	8.47E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75889	0.3911	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81265	-0.1011	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	22284;22409;22476;29708	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28781;22284;22476;22409;22281	ENSP00000343764:R28781H;ENSP00000434586:R22284H;ENSP00000340554:R22476H;ENSP00000352154:R22409H	ENSP00000340554:R22476H	R	-	2	0	TTN	179120553	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.795000	0.96236	0.655000	0.94253	CGT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	61	0	0	0	1	0	24	61				
SRRT	51593	broad.mit.edu	37	7	100479773	100479773	+	Silent	SNP	G	G	A	rs539649940		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100479773G>A	ENST00000347433.4	+	5	656	c.498G>A	c.(496-498)acG>acA	p.T166T	SRRT_ENST00000432932.1_Silent_p.T166T|SRRT_ENST00000388793.4_Silent_p.T166T|SRRT_ENST00000457580.2_Silent_p.T166T			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	166					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGGATGAGACGGAGGCCGTCA	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16799	0.0		0.0	False		,,,				2504	0.0					ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(496-498)acG>acA		serrate RNA effector molecule homolog (Arabidopsis)							131.0	114.0	120.0					7																	100479773		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479773G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.498G>A	7.37:g.100479773G>A						SRRT_ENST00000432932.1_Silent_p.T166T|SRRT_ENST00000347433.4_Silent_p.T166T|SRRT_ENST00000457580.2_Silent_p.T166T	p.T166T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			5	718	+			166					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.498G>A	CCDS34709.1																																																																																				0.567	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		22	50	0	0	0	1	0	22	50				
DLGAP1	9229	broad.mit.edu	37	18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3879897C>T	ENST00000315677.3	-	4	767	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	58					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.V58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672																																						ENST00000315677.3																			1	Substitution - Missense(1)	p.V58M(1)	ovary(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(172-174)Gtg>Atg		discs, large (Drosophila) homolog-associated protein 1							52.0	53.0	53.0					18																	3879897		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879897C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.172G>A	18.37:g.3879897C>T	ENSP00000316377:p.Val58Met					DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA	p.V58M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	767	-		Colorectal(8;0.0257)	58					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.172G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983953	0.18889	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.11063	2.81;2.81	5.8	5.8	0.92144	.	0.354251	0.26995	N	0.021452	T	0.04770	0.0129	N	0.04959	-0.14	0.29526	N	0.853106	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.12156	0.002;0.006;0.007	T	0.34551	-0.9824	10	0.14656	T	0.56	-9.3751	7.6051	0.28097	0.0:0.8067:0.0:0.1933	.	58;58;58	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	M	58	ENSP00000316377:V58M;ENSP00000445973:V58M	ENSP00000316377:V58M	V	-	1	0	DLGAP1	3869897	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	1.823000	0.39062	2.744000	0.94065	0.655000	0.94253	GTG		0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			7	152	0	0	0	1	0	7	152				
EXOSC10	5394	broad.mit.edu	37	1	11142844	11142844	+	Missense_Mutation	SNP	C	C	T	rs201756050		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11142844C>T	ENST00000376936.4	-	10	1230	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	EXOSC10_ENST00000485606.1_5'Flank|EXOSC10_ENST00000544779.1_Missense_Mutation_p.R394H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R394H	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	394					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTTAAGAAGGCGTGCTGCCTG	0.448																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1180-1182)cGc>cAc		exosome component 10							219.0	191.0	201.0					1																	11142844		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11142844C>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1181G>A	1.37:g.11142844C>T	ENSP00000366135:p.Arg394His					EXOSC10_ENST00000376936.4_Missense_Mutation_p.R394H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R394H	p.R394H			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	10	1186	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	394					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.1181G>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	C	35	5.483564	0.96307	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.64438	-0.1;-0.1;-0.1	6.07	6.07	0.98685	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.88704	2.975	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.57911	0.829;0.817	T	0.81276	-0.1006	10	0.45353	T	0.12	-19.6345	19.6475	0.95784	0.0:1.0:0.0:0.0	.	394;394	Q01780-2;Q01780	.;EXOSX_HUMAN	H	394	ENSP00000366135:R394H;ENSP00000307307:R394H;ENSP00000439473:R394H	ENSP00000307307:R394H	R	-	2	0	EXOSC10	11065431	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGC		0.448	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		4	149	0	0	0	1	0	4	149				
C2CD2L	9854	broad.mit.edu	37	11	118984807	118984807	+	Silent	SNP	C	C	T	rs199873574		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:118984807C>T	ENST00000528586.1	+	9	955	c.885C>T	c.(883-885)gaC>gaT	p.D295D	C2CD2L_ENST00000336702.3_Silent_p.D548D			O14523	C2C2L_HUMAN	C2CD2-like	547						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TTGCTCAGGACGAGTTGGCGC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18641	0.0		0.001	False		,,,				2504	0.0					ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1642-1644)gaC>gaT		C2CD2-like		C		0,4400		0,0,2200	93.0	96.0	95.0		1644	0.1	1.0	11		95	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	C2CD2L	NM_014807.3		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		548/708	118984807	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	9854					integral to membrane		g.chr11:118984807C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.885C>T	11.37:g.118984807C>T						C2CD2L_ENST00000528586.1_Silent_p.D295D	p.D548D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			13	2003	+			547					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	ENST00000528586.1	37	c.1644C>T																																																																																					0.627	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		36	129	0	0	0	1	0	36	129				
CROCC	9696	broad.mit.edu	37	1	17279878	17279878	+	Missense_Mutation	SNP	C	C	T	rs111474169		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17279878C>T	ENST00000375541.5	+	21	3157	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGCTGGCCCGGCTGGAGGC	0.672																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3088-3090)Cgg>Tgg		ciliary rootlet coiled-coil, rootletin							15.0	17.0	16.0					1																	17279878		2190	4283	6473	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17279878C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3088C>T	1.37:g.17279878C>T	ENSP00000364691:p.Arg1030Trp					CROCC_ENST00000467938.1_3'UTR	p.R1030W	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	21	3157	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1030						Missense_Mutation	SNP	ENST00000375541.5	37	c.3088C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736061	0.49045	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.11277	2.79	3.6	2.67	0.31697	.	.	.	.	.	T	0.28566	0.0707	M	0.72118	2.19	0.44454	D	0.997388	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.70016	0.967;0.616;0.725	T	0.02251	-1.1188	9	0.72032	D	0.01	.	11.424	0.49998	0.0:0.815:0.185:0.0	.	893;333;1030	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	W	1030;911	ENSP00000364691:R1030W	ENSP00000364691:R1030W	R	+	1	2	CROCC	17152465	0.059000	0.20769	1.000000	0.80357	0.985000	0.73830	1.091000	0.30915	0.787000	0.33731	0.455000	0.32223	CGG		0.672	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		16	28	0	0	0	1	0	16	28				
BRD4	23476	broad.mit.edu	37	19	15366930	15366930	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366930T>C	ENST00000263377.2	-	9	1917	c.1696A>G	c.(1696-1698)Aag>Gag	p.K566E	BRD4_ENST00000371835.4_Missense_Mutation_p.K566E|BRD4_ENST00000360016.5_Missense_Mutation_p.K566E|BRD4_ENST00000602230.1_5'Flank	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	566	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggaggttccttggctttgctt	0.418			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1696-1698)Aag>Gag		bromodomain containing 4							293.0	259.0	270.0					19																	15366930		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366930T>C	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1696A>G	19.37:g.15366930T>C	ENSP00000263377:p.Lys566Glu					BRD4_ENST00000371835.4_Missense_Mutation_p.K566E|BRD4_ENST00000360016.5_Missense_Mutation_p.K566E	p.K566E	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		9	1917	-			566			Lys-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1696A>G	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.818243	0.50633	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.64803	-0.12;2.65;2.65	5.23	4.19	0.49359	.	0.107475	0.41500	D	0.000878	T	0.43634	0.1256	L	0.29908	0.895	0.28343	N	0.92125	P;B;P	0.39782	0.688;0.341;0.462	B;B;B	0.34536	0.185;0.118;0.121	T	0.39272	-0.9622	10	0.44086	T	0.13	-26.9324	6.7922	0.23705	0.1512:0.0:0.1577:0.691	.	566;566;566	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	E	566	ENSP00000263377:K566E;ENSP00000360901:K566E;ENSP00000353112:K566E	ENSP00000263377:K566E	K	-	1	0	BRD4	15227930	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.589000	0.36644	0.799000	0.34018	0.459000	0.35465	AAG		0.418	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		11	39	0	0	0	1	0	11	39				
IGKV2D-24	28885	broad.mit.edu	37	2	90044403	90044403	+	RNA	SNP	C	C	T	rs371304835		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:90044403C>T	ENST00000462693.1	+	0	354									immunoglobulin kappa variable 2D-24 (non-functional)																		CTGAGGATGTCGGGGTTTATT	0.527																																						ENST00000462693.1																			0															C		0,3814		0,0,1907	143.0	138.0	140.0			-7.0	0.0	2		140	1,8233		0,1,4116	no	intergenic				0,1,6023	TT,TC,CC		0.0121,0.0,0.0083			90044403	1,12047	1907	4117	6024			0							g.chr2:90044403C>T	X63401		2p11.2	2012-02-08	2008-09-10		ENSG00000241566	ENSG00000241566		"""Immunoglobulins / IGK locus"""	5797	other	immunoglobulin gene			"""immunoglobulin kappa variable 2D-24"""				Standard	NG_000833		Approved				OTTHUMG00000151618		2.37:g.90044403C>T														0	354	+									RNA	SNP	ENST00000462693.1	37																																																																																						0.527	IGKV2D-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323290.1	NG_000833		18	256	0	0	0	1	0	18	256				
ETS2	2114	broad.mit.edu	37	21	40193595	40193595	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40193595C>T	ENST00000360214.3	+	10	1621	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	ETS2_ENST00000360938.3_Silent_p.D387D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	387					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACTGGAGACGGATGGGAGT	0.532																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1159-1161)gaC>gaT		v-ets avian erythroblastosis virus E26 oncogene homolog 2							114.0	110.0	111.0					21																	40193595		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40193595C>T		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.1161C>T	21.37:g.40193595C>T						ETS2_ENST00000360938.3_Silent_p.D387D	p.D387D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			10	1621	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	387					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.1161C>T	CCDS13659.1																																																																																				0.532	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			40	90	0	0	0	1	0	40	90				
SH3BP1	23616	broad.mit.edu	37	22	38041481	38041481	+	Silent	SNP	C	C	T	rs538833807		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38041481C>T	ENST00000357436.4	+	10	1201	c.888C>T	c.(886-888)tgC>tgT	p.C296C	SH3BP1_ENST00000336738.5_Silent_p.C296C|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Silent_p.C296C|SH3BP1_ENST00000599616.1_Silent_p.C232C	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	296	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGAGGCCTGCGTCATGATGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18912	0.0		0.0	False		,,,				2504	0.001					ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(694-696)tgC>tgT		SH3-domain binding protein 1							84.0	81.0	82.0					22																	38041481		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38041481C>T		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.888C>T	22.37:g.38041481C>T						SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Silent_p.C296C|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.C296C|SH3BP1_ENST00000336738.5_Silent_p.C296C	p.C232C			Q9Y3L3	3BP1_HUMAN			8	696	+	Melanoma(58;0.0574)		296			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.696C>T	CCDS13952.2																																																																																				0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		5	122	0	0	0	1	0	5	122				
MCM2	4171	broad.mit.edu	37	3	127336184	127336184	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127336184G>A	ENST00000265056.7	+	11	2080	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	612	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						TCTCCATCTCGAAGGCTGGCA	0.587																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1834-1836)tcG>tcA		minichromosome maintenance complex component 2							103.0	74.0	84.0					3																	127336184		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127336184G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1836G>A	3.37:g.127336184G>A							p.S612S	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			11	2080	+			612			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1836G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	9.795	1.179059	0.21787	.	.	ENSG00000073111	ENST00000491422	.	.	.	6.17	-6.13	0.02118	.	.	.	.	.	T	0.61825	0.2378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63444	-0.6636	4	.	.	.	-25.1821	14.3257	0.66518	0.4207:0.1914:0.3879:0.0	.	.	.	.	Q	544	.	.	R	+	2	0	MCM2	128818874	0.002000	0.14202	0.331000	0.25455	0.872000	0.50106	-1.110000	0.03306	-2.002000	0.00963	-1.114000	0.02060	CGA		0.587	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			12	53	0	0	0	1	0	12	53				
KAT7	11143	broad.mit.edu	37	17	47904070	47904070	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:47904070C>T	ENST00000259021.4	+	14	1923	c.1643C>T	c.(1642-1644)aCg>aTg	p.T548M	KAT7_ENST00000454930.2_Missense_Mutation_p.T409M|KAT7_ENST00000435742.2_Missense_Mutation_p.T362M|KAT7_ENST00000509773.1_Missense_Mutation_p.T438M|KAT7_ENST00000503935.2_Missense_Mutation_p.T392M|KAT7_ENST00000424009.2_Missense_Mutation_p.T518M|KAT7_ENST00000510819.1_Missense_Mutation_p.T379M|KAT7_ENST00000513980.1_3'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	548	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T548M(1)									AGTCAGGAGACGGCTGTGAAT	0.478																																						ENST00000503935.2																			1	Substitution - Missense(1)	p.T548M(1)	endometrium(1)								c.(1174-1176)aCg>aTg		K(lysine) acetyltransferase 7							130.0	120.0	123.0					17																	47904070		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47904070C>T	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1643C>T	17.37:g.47904070C>T	ENSP00000259021:p.Thr548Met					KAT7_ENST00000454930.2_Missense_Mutation_p.T409M|KAT7_ENST00000435742.2_Missense_Mutation_p.T362M|KAT7_ENST00000424009.2_Missense_Mutation_p.T518M|KAT7_ENST00000509773.1_Missense_Mutation_p.T438M|KAT7_ENST00000510819.1_Missense_Mutation_p.T379M|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000259021.4_Missense_Mutation_p.T548M	p.T392M			O95251	MYST2_HUMAN			14	2211	+			548					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.1175C>T	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881765	0.91740	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.76278	0.3965	L	0.60845	1.875	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.992;0.998;0.987;0.992;0.994	T	0.69939	-0.5009	9	0.25751	T	0.34	-14.0	19.2067	0.93734	0.0:1.0:0.0:0.0	.	511;379;438;409;548	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251	.;.;.;.;KAT7_HUMAN	M	548;409;438;379;518;392;362	.	ENSP00000259021:T548M	T	+	2	0	KAT7	45259069	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.873000	0.98535	0.561000	0.74099	ACG		0.478	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		8	154	0	0	0	1	0	8	154				
CHD8	57680	broad.mit.edu	37	14	21876686	21876686	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:21876686C>T	ENST00000557364.1	-	13	2778	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.G560R|CHD8_ENST00000399982.2_Missense_Mutation_p.G839R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	839	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGCCCAATCCCATCTCATCA	0.408																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2515-2517)Gga>Aga		chromodomain helicase DNA binding protein 8							62.0	58.0	59.0					14																	21876686		1921	4127	6048	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876686C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2515G>A	14.37:g.21876686C>T	ENSP00000451601:p.Gly839Arg					CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.G839R|CHD8_ENST00000430710.3_Missense_Mutation_p.G560R	p.G839R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	12	2579	-	all_cancers(95;0.00121)		839			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2515G>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.082940|5.082940	0.94050|0.94050	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.99812	.|-6.88;-6.88;-6.88	5.5|5.5	5.5|5.5	0.81552|0.81552	.|DEAD-like helicase (2);SNF2-related (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99906|0.99906	0.9955|0.9955	H|H	0.99650|0.99650	4.68|4.68	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.997	D|D	0.96210|0.96210	0.9152|0.9152	6|10	.|0.87932	.|D	.|0	-20.3361|-20.3361	18.3222|18.3222	0.90242|0.90242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|839;560	.|Q9HCK8;Q9HCK8-2	.|CHD8_HUMAN;.	E|R	64|560;839;559;839	.|ENSP00000406288:G560R;ENSP00000382863:G839R;ENSP00000451601:G839R	.|ENSP00000262707:G559R	G|G	-|-	2|1	0|0	CHD8|CHD8	20946526|20946526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.651000|7.651000	0.83577|0.83577	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GGG|GGA		0.408	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	29	0	0	0	1	0	7	29				
ZNF564	163050	broad.mit.edu	37	19	12638262	12638262	+	Silent	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12638262A>C	ENST00000339282.7	-	4	856	c.660T>G	c.(658-660)acT>acG	p.T220T	CTD-2192J16.20_ENST00000593682.1_3'UTR|CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	220					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						GTTTCTCTCCAGTGTGAGTTC	0.398																																						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.(658-660)acT>acG		zinc finger protein 564							81.0	89.0	86.0					19																	12638262		2197	4298	6495	SO:0001819	synonymous_variant	163050							g.chr19:12638262A>C	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.660T>G	19.37:g.12638262A>C						ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	p.T220T	NM_144976.3	NP_659413.1					4	856	-								B9EGT4|Q6P1K6	Silent	SNP	ENST00000339282.7	37	c.660T>G	CCDS42505.1																																																																																				0.398	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		4	99	0	0	0	1	0	4	99				
MYO18A	399687	broad.mit.edu	37	17	27437499	27437499	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27437499C>T	ENST00000527372.1	-	18	3222	c.3042G>A	c.(3040-3042)gcG>gcA	p.A1014A	MYO18A_ENST00000531253.1_Silent_p.A1014A|MYO18A_ENST00000354329.4_Silent_p.A1014A|MYO18A_ENST00000533112.1_Silent_p.A1014A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1014	Myosin motor.			A -> V (in Ref. 1; BAD66838). {ECO:0000305}.	actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTTTGACAGCCGCCATGCCTG	0.647																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(3040-3042)gcG>gcA		myosin XVIIIA							26.0	27.0	27.0					17																	27437499		1994	4164	6158	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27437499C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3042G>A	17.37:g.27437499C>T						MYO18A_ENST00000354329.4_Silent_p.A1014A|MYO18A_ENST00000533112.1_Silent_p.A1014A|MYO18A_ENST00000531253.1_Silent_p.A1014A	p.A1014A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		18	3222	-			1014	A -> V (in Ref. 1; BAD66838).		Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.3042G>A	CCDS45642.1																																																																																				0.647	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	11	0	0	0	1	0	3	11				
PTBP1	5725	broad.mit.edu	37	19	803588	803588	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:803588T>C	ENST00000349038.4	+	3	140	c.67T>C	c.(67-69)Tgt>Cgt	p.C23R	MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.C23R|PTBP1_ENST00000356948.6_Missense_Mutation_p.C23R	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	23					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TTTCTCTACTTGTGTCACTAA	0.612																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(67-69)Tgt>Cgt		polypyrimidine tract binding protein 1							128.0	120.0	123.0					19																	803588		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:803588T>C	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.67T>C	19.37:g.803588T>C	ENSP00000014112:p.Cys23Arg					PTBP1_ENST00000394601.4_Missense_Mutation_p.C23R|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.C23R	p.C23R	NM_002819.4	NP_002810.1	P26599	PTBP1_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	490	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	23					Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.67T>C	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	T	7.323	0.617400	0.14129	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.42900	0.96;0.97;1.26	4.37	2.21	0.28008	.	0.113495	0.64402	D	0.000009	T	0.36580	0.0972	L	0.44542	1.39	0.80722	D	1	B;P;P	0.36909	0.009;0.573;0.57	B;B;B	0.42771	0.011;0.397;0.317	T	0.10870	-1.0611	10	0.59425	D	0.04	-18.9895	6.2047	0.20595	0.0:0.0881:0.1616:0.7503	.	23;23;23	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	R	23	ENSP00000349428:C23R;ENSP00000408096:C23R;ENSP00000014112:C23R	ENSP00000014112:C23R	C	+	1	0	PTBP1	754588	1.000000	0.71417	0.165000	0.22776	0.104000	0.19210	3.450000	0.52957	0.169000	0.19679	-0.379000	0.06801	TGT		0.612	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			24	135	0	0	0	1	0	24	135				
NFATC2	4773	broad.mit.edu	37	20	50048649	50048649	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50048649T>C	ENST00000396009.3	-	9	2896	c.2677A>G	c.(2677-2679)Acc>Gcc	p.T893A	NFATC2_ENST00000610033.1_Missense_Mutation_p.T674A|NFATC2_ENST00000371564.3_Missense_Mutation_p.T893A|NFATC2_ENST00000609943.1_Missense_Mutation_p.T873A|NFATC2_ENST00000609507.1_Missense_Mutation_p.T674A|NFATC2_ENST00000414705.1_Missense_Mutation_p.T873A	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	893					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTTTAATGGTCACCCCCGCA	0.522																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2677-2679)Acc>Gcc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							181.0	158.0	166.0					20																	50048649		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048649T>C	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2677A>G	20.37:g.50048649T>C	ENSP00000379330:p.Thr893Ala					NFATC2_ENST00000396009.3_Missense_Mutation_p.T893A|NFATC2_ENST00000414705.1_Missense_Mutation_p.T873A	p.T893A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2896	-	Hepatocellular(150;0.248)		893					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2677A>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762710	0.49574	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.20463	2.07;2.17;2.1	5.42	5.42	0.78866	.	0.080877	0.53938	D	0.000058	T	0.25269	0.0614	L	0.61218	1.895	0.52099	D	0.999944	B;B;B;B	0.29835	0.011;0.258;0.084;0.04	B;B;B;B	0.24701	0.019;0.055;0.03;0.035	T	0.04029	-1.0983	10	0.87932	D	0	-5.0977	15.4755	0.75474	0.0:0.0:0.0:1.0	.	873;873;893;893	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	A	893;893;873	ENSP00000360619:T893A;ENSP00000379330:T893A;ENSP00000396471:T873A	ENSP00000360619:T893A	T	-	1	0	NFATC2	49482056	1.000000	0.71417	0.990000	0.47175	0.558000	0.35554	5.937000	0.70162	2.050000	0.60909	0.482000	0.46254	ACC		0.522	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		7	213	0	0	0	1	0	7	213				
CRABP2	1382	broad.mit.edu	37	1	156670351	156670351	+	Missense_Mutation	SNP	C	C	T	rs146571038	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156670351C>T	ENST00000368222.3	-	3	503	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	117					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	AGTTCCCCATCGTTGGTCAGT	0.547																																						ENST00000368222.3																			0				endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6						c.(349-351)Gat>Aat		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)	C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	120.0	106.0	110.0		349,349	5.0	1.0	1	dbSNP_134	110	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	CRABP2	NM_001199723.1,NM_001878.3	23,23	0,9,6494	TT,TC,CC		0.1047,0.0,0.0692	benign,benign	117/139,117/139	156670351	9,12997	2203	4300	6503	SO:0001583	missense	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670351C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.349G>A	1.37:g.156670351C>T	ENSP00000357205:p.Asp117Asn					CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N	p.D117N	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN			3	503	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		117					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Missense_Mutation	SNP	ENST00000368222.3	37	c.349G>A	CCDS1152.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002117	0.74932	0.0	0.001047	ENSG00000143320	ENST00000368222;ENST00000368221	T;T	0.08282	3.11;3.11	4.98	4.98	0.66077	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.048651	0.85682	D	0.000000	T	0.05823	0.0152	L	0.52573	1.65	0.80722	D	1	P	0.38582	0.638	B	0.37508	0.252	T	0.12553	-1.0543	10	0.62326	D	0.03	.	15.7613	0.78082	0.0:1.0:0.0:0.0	.	117	P29373	RABP2_HUMAN	N	117	ENSP00000357205:D117N;ENSP00000357204:D117N	ENSP00000357204:D117N	D	-	1	0	CRABP2	154936975	1.000000	0.71417	0.965000	0.40720	0.955000	0.61496	5.641000	0.67881	2.319000	0.78375	0.561000	0.74099	GAT		0.547	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		4	69	0	0	0	1	0	4	69				
AKNA	80709	broad.mit.edu	37	9	117103926	117103926	+	Silent	SNP	C	C	T	rs367770613		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117103926C>T	ENST00000307564.4	-	21	4115	c.3954G>A	c.(3952-3954)tcG>tcA	p.S1318S	AKNA_ENST00000223791.3_Silent_p.S778S|AKNA_ENST00000374088.3_Silent_p.S1318S|AKNA_ENST00000374075.5_Silent_p.S1237S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.S263S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1318					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGGCGTGGCGACGACCCCG	0.627																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(3952-3954)tcG>tcA		AT-hook transcription factor		C		0,4406		0,0,2203	63.0	64.0	64.0		3954	-10.3	0.0	9		64	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	AKNA	NM_030767.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1318/1440	117103926	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117103926C>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3954G>A	9.37:g.117103926C>T						AKNA_ENST00000374075.5_Silent_p.S1237S|AKNA_ENST00000374088.3_Silent_p.S1318S|AKNA_ENST00000223791.3_Silent_p.S778S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Silent_p.S263S	p.S1318S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			21	4115	-			1318					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.3954G>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	0.253	-1.004757	0.02112	0.0	3.49E-4	ENSG00000106948	ENST00000320310	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.30823	0.0777	.	.	.	0.24107	N	0.995857	.	.	.	.	.	.	T	0.46965	-0.9153	5	0.52906	T	0.07	-11.0105	6.8794	0.24164	0.0832:0.1059:0.1993:0.6116	.	.	.	.	H	329	.	ENSP00000314538:R329H	R	-	2	0	AKNA	116143747	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.876000	0.00175	-2.592000	0.00456	-1.340000	0.01251	CGC		0.627	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		32	106	0	0	0	1	0	32	106				
SUMO3	6612	broad.mit.edu	37	21	46233779	46233779	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46233779C>T	ENST00000411651.2	-	2	374	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397893.3_Intron					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GAGGGCACCTCGGGCAGCTGC	0.642																																						ENST00000411651.2																			0				prostate(1)	1						c.(262-264)Gag>Aag		small ubiquitin-like modifier 3																																				SO:0001583	missense	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233779C>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000411651.2:c.262G>A	21.37:g.46233779C>T	ENSP00000409666:p.Glu88Lys					SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000397898.3_Intron	p.E88K			P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	374	-			50			Ubiquitin-like.			Missense_Mutation	SNP	ENST00000411651.2	37	c.262G>A		.	.	.	.	.	.	.	.	.	.	C	0.057	-1.233984	0.01505	.	.	ENSG00000184900	ENST00000411651	T	0.27557	1.66	0.962	-0.113	0.13568	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	P	0.35908	0.527	B	0.17098	0.017	T	0.24977	-1.0145	8	0.15066	T	0.55	.	5.4419	0.16513	0.3277:0.6723:0.0:0.0	.	88	B4DUW4	.	K	88	ENSP00000409666:E88K	ENSP00000409666:E88K	E	-	1	0	SUMO3	45058207	0.016000	0.18221	0.000000	0.03702	0.004000	0.04260	0.173000	0.16724	-0.047000	0.13423	0.555000	0.69702	GAG		0.642	SUMO3-201	KNOWN	basic	protein_coding	protein_coding				4	14	0	0	0	1	0	4	14				
CCDC180	100499483	broad.mit.edu	37	9	100082480	100082480	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:100082480G>A	ENST00000357054.1	+	25	2636	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.K425K|CCDC180_ENST00000375202.2_Silent_p.K428K|CCDC180_ENST00000529487.1_Silent_p.K428K|CCDC180_ENST00000395220.1_Silent_p.K527K|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	567						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCCTGAACAAGGAGCTAGGTG	0.527																																						ENST00000375202.2																			0											c.(1282-1284)aaG>aaA		coiled-coil domain containing 180							208.0	191.0	197.0					9																	100082480		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100082480G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1701G>A	9.37:g.100082480G>A						CCDC180_ENST00000411667.2_Silent_p.K425K|CCDC180_ENST00000395220.1_Silent_p.K527K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.K567K|CCDC180_ENST00000529487.1_Silent_p.K428K|CCDC180_ENST00000460482.2_3'UTR	p.K428K							25	2636	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.1284G>A																																																																																					0.527	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		53	135	0	0	0	1	0	53	135				
TXLNB	167838	broad.mit.edu	37	6	139609729	139609729	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:139609729T>G	ENST00000358430.3	-	2	540	c.308A>C	c.(307-309)gAg>gCg	p.E103A	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	103						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGTTGTTTCCTCACAGTCCCC	0.532																																						ENST00000358430.3																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37						c.(307-309)gAg>gCg		taxilin beta							115.0	113.0	113.0					6																	139609729		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139609729T>G		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.308A>C	6.37:g.139609729T>G	ENSP00000351206:p.Glu103Ala						p.E103A	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	2	540	-			103					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.308A>C	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.100169	0.56183	.	.	ENSG00000164440	ENST00000358430	T	0.18657	2.2	5.96	5.96	0.96718	.	0.387640	0.29684	N	0.011472	T	0.12305	0.0299	L	0.55481	1.735	0.49798	D	0.999822	P	0.48694	0.914	B	0.37731	0.257	T	0.03221	-1.1059	9	.	.	.	-8.9794	16.4139	0.83728	0.0:0.0:0.0:1.0	.	103	Q8N3L3	TXLNB_HUMAN	A	103	ENSP00000351206:E103A	.	E	-	2	0	TXLNB	139651422	0.998000	0.40836	0.142000	0.22268	0.258000	0.26162	5.405000	0.66351	2.279000	0.76181	0.528000	0.53228	GAG		0.532	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		5	116	0	0	0	1	0	5	116				
YIF1B	90522	broad.mit.edu	37	19	38798088	38798088	+	Missense_Mutation	SNP	C	C	T	rs370851309		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38798088C>T	ENST00000339413.6	-	7	814	c.769G>A	c.(769-771)Gta>Ata	p.V257I	YIF1B_ENST00000592246.1_Missense_Mutation_p.V191I|YIF1B_ENST00000591784.1_Missense_Mutation_p.V226I|YIF1B_ENST00000337679.8_Missense_Mutation_p.V254I|YIF1B_ENST00000392124.3_Missense_Mutation_p.V226I|YIF1B_ENST00000592694.1_Missense_Mutation_p.V226I|YIF1B_ENST00000591755.1_Missense_Mutation_p.V254I|YIF1B_ENST00000587361.1_5'Flank|YIF1B_ENST00000329420.8_Missense_Mutation_p.V242I	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	257						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGGCTACGCAGCACCAG	0.622																																						ENST00000392124.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10						c.(676-678)Gta>Ata		Yip1 interacting factor homolog B (S. cerevisiae)		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	85.0	74.0	78.0		724,769,760,718,676,760,676	-0.6	0.2	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	YIF1B	NM_001039671.2,NM_001039672.2,NM_001039673.2,NM_001145461.1,NM_001145462.1,NM_001145463.1,NM_033557.3	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	242/300,257/315,254/312,240/298,226/284,254/292,226/284	38798088	1,13005	2203	4300	6503	SO:0001583	missense	90522					integral to membrane		g.chr19:38798088C>T	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.769G>A	19.37:g.38798088C>T	ENSP00000343435:p.Val257Ile					YIF1B_ENST00000339413.6_Missense_Mutation_p.V257I|YIF1B_ENST00000591755.1_Missense_Mutation_p.V254I|YIF1B_ENST00000329420.8_Missense_Mutation_p.V242I|YIF1B_ENST00000592694.1_Missense_Mutation_p.V226I|YIF1B_ENST00000591784.1_Missense_Mutation_p.V226I|YIF1B_ENST00000592246.1_Missense_Mutation_p.V191I|YIF1B_ENST00000337679.8_Missense_Mutation_p.V254I	p.V226I	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	990	-	all_cancers(60;1.07e-06)		257					H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Missense_Mutation	SNP	ENST00000339413.6	37	c.676G>A	CCDS33010.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373271	0.11409	0.0	1.16E-4	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	5.66	-0.566	0.11767	.	0.271749	0.35838	N	0.002953	T	0.49218	0.1544	N	0.02765	-0.5	0.09310	N	1	B;B;B;B;B	0.19706	0.003;0.038;0.024;0.001;0.0	B;B;B;B;B	0.12837	0.002;0.004;0.008;0.007;0.001	T	0.40757	-0.9546	10	0.12766	T	0.61	-14.684	5.5783	0.17235	0.0:0.4878:0.1321:0.3801	.	226;254;254;257;254	Q5BJH7-2;Q5BJH7-5;Q5BJH7-4;Q5BJH7;Q5BJH7-3	.;.;.;YIF1B_HUMAN;.	I	257;242;226;254	ENSP00000343435:V257I;ENSP00000329559:V242I;ENSP00000375971:V226I;ENSP00000337411:V254I	ENSP00000329559:V242I	V	-	1	0	YIF1B	43489928	0.000000	0.05858	0.207000	0.23584	0.506000	0.33950	-0.231000	0.09069	-0.184000	0.10567	0.555000	0.69702	GTA		0.622	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		8	31	0	0	0	1	0	8	31				
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			2	Substitution - Missense(2)	p.R794C(1)|p.R1323C(1)	prostate(2)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3967-3969)Cgc>Tgc		protein tyrosine phosphatase, receptor type, D							352.0	317.0	329.0					9																	8449746		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8449746G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3967C>T	9.37:g.8449746G>A	ENSP00000370593:p.Arg1323Cys	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C	p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4510	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1323					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3967C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113135	0.77210	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.47;0.47;0.51;0.56;0.63;0.74;0.5;0.41;0.47;0.62;0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.014;0.999;1.0	D;D;D;D;D;D;B;P;D	0.83275	0.973;0.973;0.973;0.973;0.996;0.988;0.004;0.794;0.953	T	0.79813	-0.1645	9	.	.	.	.	14.7505	0.69522	0.0:0.0:0.8554:0.1446	.	902;907;916;917;913;913;1310;1323;1323	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1323;1323;1310;1301;917;902;913;913;794;1323;916;902	ENSP00000370593:R1323C;ENSP00000348812:R1323C;ENSP00000353187:R1310C;ENSP00000351293:R1301C;ENSP00000347373:R917C;ENSP00000380741:R902C;ENSP00000380735:R913C;ENSP00000440515:R913C;ENSP00000438164:R1323C;ENSP00000417093:R916C;ENSP00000380731:R902C	.	R	-	1	0	PTPRD	8439746	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.797000	0.69087	2.788000	0.95919	0.650000	0.86243	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			26	117	0	0	0	1	0	26	117				
SLC27A1	376497	broad.mit.edu	37	19	17608233	17608233	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17608233C>T	ENST00000252595.7	+	7	1263	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A389V|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A210V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	389	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTACGGCGCCACCGAGTGC	0.667																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1165-1167)gCc>gTc		solute carrier family 27 (fatty acid transporter), member 1							42.0	37.0	39.0					19																	17608233		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17608233C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1166C>T	19.37:g.17608233C>T	ENSP00000252595:p.Ala389Val					SLC27A1_ENST00000598424.1_Missense_Mutation_p.A210V|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A389V|CTD-3131K8.2_ENST00000596643.1_lincRNA	p.A389V	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			7	1263	+			389			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1166C>T	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121438	0.94385	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.40756	1.02;1.02	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.058451	0.64402	D	0.000002	T	0.69797	0.3151	M	0.90542	3.125	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.75484	0.986;0.973;0.973	T	0.77978	-0.2384	10	0.87932	D	0	-12.1424	14.8201	0.70065	0.0:1.0:0.0:0.0	.	210;389;389	B7Z662;Q6PCB7;B7Z3U1	.;S27A1_HUMAN;.	V	389	ENSP00000413424:A389V;ENSP00000252595:A389V	ENSP00000252595:A389V	A	+	2	0	SLC27A1	17469233	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.234000	0.78134	2.136000	0.66102	0.456000	0.33151	GCC		0.667	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		16	20	0	0	0	1	0	16	20				
OVCH1	341350	broad.mit.edu	37	12	29630469	29630469	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:29630469C>T	ENST00000318184.5	-	10	1111	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	371	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAAACTTACACGTTTGTTTTG	0.368																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.e10+1		ovochymase 1							98.0	95.0	96.0					12																	29630469		1863	4098	5961	SO:0001630	splice_region_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630469C>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1113+1G>A	12.37:g.29630469C>T						OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	p.R371_splice	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			10	1111	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		371			CUB 1.			Splice_Site	SNP	ENST00000318184.5	37	c.1113_splice		.	.	.	.	.	.	.	.	.	.	C	6.018	0.371637	0.11409	.	.	ENSG00000187950	ENST00000318184	T	0.23950	1.88	2.31	-3.79	0.04320	CUB (3);	.	.	.	.	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.22556	-1.0213	9	0.54805	T	0.06	.	3.7116	0.08421	0.1807:0.31:0.0:0.5093	.	371	Q7RTY7	OVCH1_HUMAN	H	371	ENSP00000326708:R371H	ENSP00000326708:R371H	R	-	2	0	OVCH1	29521736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.150000	0.10189	-1.139000	0.02881	-0.793000	0.03317	CGT		0.368	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	Missense_Mutation	15	42	0	0	0	1	0	15	42				
BAHCC1	57597	broad.mit.edu	37	17	79426159	79426159	+	Silent	SNP	C	C	T	rs373391006		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79426159C>T	ENST00000307745.7	+	25	5685	c.5685C>T	c.(5683-5685)taC>taT	p.Y1895Y	RP11-1055B8.8_ENST00000572590.1_RNA																							GCCTGCTGTACGCGGGCAGCG	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		15333	0.0		0.0	False		,,,				2504	0.001					ENST00000307745.7																			0											c.(5683-5685)taC>taT				C		3,4143		0,3,2070	17.0	23.0	21.0		5514	-4.7	1.0	17		21	0,8398		0,0,4199	no	coding-synonymous	BAHCC1	NM_001080519.2		0,3,6269	TT,TC,CC		0.0,0.0724,0.0239		1838/2552	79426159	3,12541	2073	4199	6272	SO:0001819	synonymous_variant	0							g.chr17:79426159C>T																												ENST00000307745.7:c.5685C>T	17.37:g.79426159C>T							p.Y1895Y							25	5685	+									Silent	SNP	ENST00000307745.7	37	c.5685C>T																																																																																					0.687	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				8	14	0	0	0	1	0	8	14				
PRKDC	5591	broad.mit.edu	37	8	48744475	48744475	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:48744475C>T	ENST00000314191.2	-	61	8218	c.8162G>A	c.(8161-8163)cGg>cAg	p.R2721Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2721Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2722	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAGGTCCGTCCGGCCGGCCGC	0.567								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8161-8163)cGg>cAg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							137.0	141.0	140.0					8																	48744475		1962	4151	6113	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48744475C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8162G>A	8.37:g.48744475C>T	ENSP00000313420:p.Arg2721Gln					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2721Q	p.R2721Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			61	8218	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2722			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8162G>A		.	.	.	.	.	.	.	.	.	.	C	10.55	1.382937	0.25031	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02812	4.22;4.15	5.41	3.58	0.41010	.	0.217678	0.39759	N	0.001273	T	0.02455	0.0075	L	0.33189	0.99	0.36949	D	0.89278	B;B	0.32396	0.369;0.202	B;B	0.19391	0.025;0.025	T	0.56232	-0.8013	10	0.27785	T	0.31	.	11.6941	0.51534	0.0:0.8529:0.0:0.1471	.	2721;2722	E7EUY0;P78527	.;PRKDC_HUMAN	Q	2721	ENSP00000313420:R2721Q;ENSP00000345182:R2721Q	ENSP00000313420:R2721Q	R	-	2	0	PRKDC	48907028	0.974000	0.33945	0.011000	0.14972	0.001000	0.01503	3.366000	0.52343	0.744000	0.32741	0.655000	0.94253	CGG		0.567	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	208	0	0	0	1	0	7	208				
ABL1	25	broad.mit.edu	37	9	133738400	133738400	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133738400C>T	ENST00000318560.5	+	4	1181	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TACAGCCTGACGGTGGCCGTG	0.622			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(799-801)aCg>aTg		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						77.0	80.0	79.0					9																	133738400		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133738400C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.800C>T	9.37:g.133738400C>T	ENSP00000323315:p.Thr267Met						p.T267M	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	4	1181	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	267			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.800C>T	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392884	0.96009	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.83250	-1.7;-1.7	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87370	0.6160	L	0.28649	0.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.88001	0.2756	10	0.87932	D	0	.	19.6124	0.95613	0.0:1.0:0.0:0.0	.	267;304	P00519;Q59FK4	ABL1_HUMAN;.	M	82;286;267	ENSP00000361423:T286M;ENSP00000323315:T267M	ENSP00000323315:T267M	T	+	2	0	ABL1	132728221	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	7.775000	0.85489	2.880000	0.98712	0.650000	0.86243	ACG		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		11	29	0	0	0	1	0	11	29				
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	512					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1534-1536)ttC>ttT		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							207.0	201.0	203.0					8																	53073993		2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073993G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1536C>T	8.37:g.53073993G>A							p.F512F	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			14	2219	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	512					Q17RY1	Silent	SNP	ENST00000276480.7	37	c.1536C>T	CCDS6149.1																																																																																				0.438	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			9	147	0	0	0	1	0	9	147				
KLHDC10	23008	broad.mit.edu	37	7	129756485	129756485	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129756485C>T	ENST00000335420.5	+	3	588	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	152						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R152R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CTACATGCCCCGGGAATTGGC	0.468																																						ENST00000335420.5																			1	Substitution - coding silent(1)	p.R152R(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						c.(454-456)Cgg>Tgg		kelch domain containing 10							129.0	114.0	119.0					7																	129756485		2203	4300	6503	SO:0001583	missense	23008							g.chr7:129756485C>T		CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"""scruin like at the midline homolog (Drosophila)"""	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.454C>T	7.37:g.129756485C>T	ENSP00000334140:p.Arg152Trp					KLHDC10_ENST00000495724.1_3'UTR	p.R152W	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN			3	588	+			152					Q86Y99|Q92554	Missense_Mutation	SNP	ENST00000335420.5	37	c.454C>T	CCDS5815.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.381045	0.82792	.	.	ENSG00000128607	ENST00000335420;ENST00000463413;ENST00000468226	T;D;T	0.94576	-0.24;-3.46;-0.24	5.68	3.67	0.42095	Galactose oxidase, beta-propeller (1);	0.097596	0.64402	D	0.000002	D	0.93132	0.7813	L	0.29908	0.895	0.52501	D	0.999955	D;D	0.76494	0.987;0.999	B;D	0.63192	0.436;0.912	D	0.91042	0.4872	10	0.37606	T	0.19	-14.8784	7.6416	0.28296	0.3602:0.5197:0.1201:0.0	.	9;152	Q6PID8-2;Q6PID8	.;KLD10_HUMAN	W	152;123;9	ENSP00000334140:R152W;ENSP00000420083:R123W;ENSP00000420034:R9W	ENSP00000334140:R152W	R	+	1	2	KLHDC10	129543721	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.599000	0.67592	1.353000	0.45828	0.650000	0.86243	CGG		0.468	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349347.2			42	99	0	0	0	1	0	42	99				
FLG	2312	broad.mit.edu	37	1	152278093	152278093	+	Missense_Mutation	SNP	C	C	T	rs553781249	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152278093C>T	ENST00000368799.1	-	3	9304	c.9269G>A	c.(9268-9270)cGc>cAc	p.R3090H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3090	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCATGGCGGGATCCTTG	0.582									Ichthyosis				c|||	13	0.00259585	0.0091	0.0	5008	,	,		16620	0.0		0.0	False		,,,				2504	0.001					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9268-9270)cGc>cAc		filaggrin																																				SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278093C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9269G>A	1.37:g.152278093C>T	ENSP00000357789:p.Arg3090His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R3090H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9304	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3090			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9269G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	5.948	0.358913	0.11239	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.1	-3.68	0.04463	.	.	.	.	.	T	0.00271	0.0008	N	0.04636	-0.2	0.09310	N	1	P	0.35155	0.487	B	0.24541	0.054	T	0.45614	-0.9249	9	0.44086	T	0.13	.	4.4892	0.11805	0.0:0.3239:0.3493:0.3268	.	3090	P20930	FILA_HUMAN	H	3090	ENSP00000357789:R3090H	ENSP00000357789:R3090H	R	-	2	0	FLG	150544717	0.960000	0.32886	0.000000	0.03702	0.097000	0.18754	-0.243000	0.08915	-0.962000	0.03604	-0.384000	0.06662	CGC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		114	235	0	0	0	1	0	114	235				
NALCN	259232	broad.mit.edu	37	13	101717893	101717893	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101717893G>A	ENST00000251127.6	-	40	4548	c.4467C>T	c.(4465-4467)cgC>cgT	p.R1489R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1489					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACTTGACGCGGAACGTGG	0.532																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(4465-4467)cgC>cgT		sodium leak channel, non-selective							80.0	67.0	72.0					13																	101717893		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101717893G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4467C>T	13.37:g.101717893G>A							p.R1489R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			40	4548	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1489					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.4467C>T	CCDS9498.1																																																																																				0.532	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	88	0	0	0	1	0	4	88				
COL16A1	1307	broad.mit.edu	37	1	32130816	32130816	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32130816C>A	ENST00000373672.3	-	56	4028	c.3512G>T	c.(3511-3513)gGc>gTc	p.G1171V	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1171V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1171	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAACTTTGCCTGGGAATCC	0.577																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3511-3513)gGc>gTc		collagen, type XVI, alpha 1							114.0	114.0	114.0					1																	32130816		1933	4118	6051	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32130816C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3512G>T	1.37:g.32130816C>A	ENSP00000362776:p.Gly1171Val					COL16A1_ENST00000271069.6_Missense_Mutation_p.G1171V	p.G1171V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	56	4028	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1171			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3512G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051504	0.55218	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.99637	-6.29;-6.29;-6.29	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96840	0.9617	10	0.87932	D	0	.	15.2827	0.73801	0.0:1.0:0.0:0.0	.	1171;1169	Q07092;Q07092-2	COGA1_HUMAN;.	V	1171;1171;52	ENSP00000362776:G1171V;ENSP00000271069:G1171V;ENSP00000390281:G52V	ENSP00000271069:G1171V	G	-	2	0	COL16A1	31903403	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.152000	0.64882	2.389000	0.81357	0.563000	0.77884	GGC		0.577	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		10	120	1	0	4.68919e-08	1	4.84132e-08	10	120				
PSAP	5660	broad.mit.edu	37	10	73575024	73575024	+	IGR	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:73575024A>T	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.T1112S|CDH23_ENST00000224721.6_Missense_Mutation_p.T3357S|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTGGAGATCACAGAGCTGTG	0.647																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(10069-10071)Aca>Tca		cadherin-related 23							19.0	22.0	21.0					10																	73575024		1995	4107	6102	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73575024A>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73575024A>T						CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T1112S	p.T3357S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			69	10074	+			3352					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.10069A>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194746	0.94960	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.65364	-0.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.99;0.997;0.997	D;D;D;D	0.72982	0.921;0.979;0.97;0.97	T	0.76490	-0.2940	10	0.87932	D	0	.	15.4614	0.75359	1.0:0.0:0.0:0.0	.	214;249;3317;3352	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	S	3357;3317;3355;1112	ENSP00000381768:T1112S	ENSP00000224721:T3357S	T	+	1	0	CDH23	73245030	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.580000	0.90784	2.065000	0.61736	0.533000	0.62120	ACA		0.647	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		8	11	0	0	0	1	0	8	11				
CEACAM16	388551	broad.mit.edu	37	19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211162G>A	ENST00000405314.2	+	5	1067	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.V324M			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	324					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GATCGTGCCCGTGCCCACCAA	0.652																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(970-972)Gtg>Atg		carcinoembryonic antigen-related cell adhesion molecule 16							15.0	17.0	16.0					19																	45211162		2165	4248	6413	SO:0001583	missense	388551							g.chr19:45211162G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.970G>A	19.37:g.45211162G>A	ENSP00000385576:p.Val324Met					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.V324M	p.V324M	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			6	1185	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	324					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.970G>A	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273076	0.40194	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.01665	4.7	5.87	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01695	0.0054	L	0.41236	1.265	0.28400	N	0.918674	P	0.43662	0.814	B	0.33339	0.162	T	0.46527	-0.9185	9	0.49607	T	0.09	-23.7722	7.4779	0.27387	0.1992:0.0:0.8008:0.0	.	383	Q2WEN9	CEA16_HUMAN	M	389;324	ENSP00000385576:V324M	ENSP00000379974:V389M	V	+	1	0	CEACAM16	49903002	0.973000	0.33851	0.843000	0.33291	0.928000	0.56348	1.724000	0.38064	1.404000	0.46819	-0.355000	0.07637	GTG		0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		5	15	0	0	0	1	0	5	15				
MLC1	23209	broad.mit.edu	37	22	50502485	50502485	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50502485G>A	ENST00000311597.5	-	11	1643	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	MLC1_ENST00000535444.1_Missense_Mutation_p.P267L|MLC1_ENST00000395876.2_Missense_Mutation_p.P346L|MLC1_ENST00000450140.2_Missense_Mutation_p.P294L|MLC1_ENST00000431262.2_Missense_Mutation_p.P316L|MLC1_ENST00000538737.1_Missense_Mutation_p.P312L|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	346					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCGCTCCTGCGGGCCGTTCTG	0.706																																						ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1036-1038)cCg>cTg		megalencephalic leukoencephalopathy with subcortical cysts 1							33.0	31.0	31.0					22																	50502485		2201	4300	6501	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502485G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1037C>T	22.37:g.50502485G>A	ENSP00000310375:p.Pro346Leu					MLC1_ENST00000431262.2_Missense_Mutation_p.P316L|MLC1_ENST00000535444.1_Missense_Mutation_p.P267L|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000538737.1_Missense_Mutation_p.P312L|MLC1_ENST00000395876.2_Missense_Mutation_p.P346L|MLC1_ENST00000450140.2_Missense_Mutation_p.P294L	p.P346L	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1643	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	346					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.1037C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.513143	0.27123	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11;-4.11	3.83	-4.51	0.03483	.	0.744092	0.13000	N	0.421717	D	0.90597	0.7052	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.12630	0.006;0.006;0.004;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.80256	-0.1458	10	0.62326	D	0.03	-13.4814	2.4472	0.04509	0.1063:0.1385:0.2893:0.4658	.	312;316;294;346	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	L	346;346;312;316;267;294	ENSP00000379216:P346L;ENSP00000310375:P346L;ENSP00000445805:P312L;ENSP00000415877:P316L;ENSP00000438910:P267L;ENSP00000412448:P294L	ENSP00000310375:P346L	P	-	2	0	MLC1	48844612	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-2.373000	0.01072	-0.755000	0.04709	0.550000	0.68814	CCG		0.706	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		6	35	0	0	0	1	0	6	35				
GNB4	59345	broad.mit.edu	37	3	179131318	179131318	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:179131318G>T	ENST00000232564.3	-	8	867	c.581C>A	c.(580-582)cCt>cAt	p.P194H	GNB4_ENST00000468623.1_Missense_Mutation_p.P194H|GNB4_ENST00000465153.1_5'UTR	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	194					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCATGTCAGGACTCAAAGA	0.433																																					Melanoma(105;1405 1491 7265 20440 33721)	ENST00000232564.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.(580-582)cCt>cAt		guanine nucleotide binding protein (G protein), beta polypeptide 4							150.0	144.0	146.0					3																	179131318		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179131318G>T	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.581C>A	3.37:g.179131318G>T	ENSP00000232564:p.Pro194His					GNB4_ENST00000465153.1_5'UTR|GNB4_ENST00000468623.1_Missense_Mutation_p.P194H	p.P194H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		8	867	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		194					B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.581C>A	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110115	0.94292	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.70516	-0.49;-0.49	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84982	0.5593	M	0.81179	2.53	0.80722	D	1	P;D	0.57257	0.841;0.979	P;D	0.65010	0.791;0.931	D	0.86321	0.1692	10	0.87932	D	0	-28.7483	19.7652	0.96335	0.0:0.0:1.0:0.0	.	194;194	Q9HAV0;A8K3F6	GBB4_HUMAN;.	H	194	ENSP00000232564:P194H;ENSP00000419693:P194H	ENSP00000232564:P194H	P	-	2	0	GNB4	180614012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.707000	0.98725	2.668000	0.90789	0.650000	0.86243	CCT		0.433	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		26	63	1	0	1.17739e-12	1	1.2273e-12	26	63				
DDHD1	80821	broad.mit.edu	37	14	53518597	53518597	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:53518597G>A	ENST00000323669.5	-	12	2485	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L	DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	829	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TACATTTTCCGGAAAAAGAAG	0.338																																						ENST00000323669.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2485-2487)cCg>cTg		DDHD domain containing 1							76.0	66.0	69.0					14																	53518597		1564	3580	5144	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518597G>A	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2486C>T	14.37:g.53518597G>A	ENSP00000327104:p.Pro829Leu					DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000357758.3_Intron	p.P829L	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN			12	2485	-	Breast(41;0.037)		829			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2486C>T	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571394	0.86542	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	6.07	0.98685	DDHD (2);	0.228602	0.35838	N	0.002945	T	0.59702	0.2213	N	0.12182	0.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57985	-0.7716	9	0.26408	T	0.33	-13.6586	16.1594	0.81686	0.0:0.0:1.0:0.0	.	829	Q8NEL9	DDHD1_HUMAN	L	829;700	.	ENSP00000327104:P829L	P	-	2	0	DDHD1	52588347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.904000	0.48719	2.885000	0.99019	0.655000	0.94253	CCG		0.338	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			5	11	0	0	0	1	0	5	11				
SCN8A	6334	broad.mit.edu	37	12	52184185	52184185	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52184185G>A	ENST00000354534.6	+	25	4601	c.4423G>A	c.(4423-4425)Gga>Aga	p.G1475R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1434R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1475					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTTTACTTCGGAGGTCAGGA	0.463																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(4423-4425)Gga>Aga		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						48.0	49.0	48.0					12																	52184185		2020	4206	6226	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52184185G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4423G>A	12.37:g.52184185G>A	ENSP00000346534:p.Gly1475Arg					SCN8A_ENST00000545061.1_Missense_Mutation_p.G1434R	p.G1475R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	25	4601	+			1475					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4423G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724295	0.68959	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.96396	-4.0;-3.92;-3.74	4.68	4.68	0.58851	.	0.147720	0.44902	U	0.000409	D	0.95884	0.8660	M	0.82193	2.58	0.80722	D	1	P	0.41214	0.742	B	0.36504	0.226	D	0.96696	0.9514	10	0.59425	D	0.04	.	18.1713	0.89746	0.0:0.0:1.0:0.0	.	1475	Q9UQD0	SCN8A_HUMAN	R	1475;1434;1434	ENSP00000346534:G1475R;ENSP00000440360:G1434R;ENSP00000347255:G1434R	ENSP00000346534:G1475R	G	+	1	0	SCN8A	50470452	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.657000	0.98554	2.591000	0.87537	0.650000	0.86243	GGA		0.463	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		5	14	0	0	0	1	0	5	14				
ATP9A	10079	broad.mit.edu	37	20	50235572	50235572	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50235572C>T	ENST00000338821.5	-	20	2390	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ATP9A_ENST00000311637.5_Missense_Mutation_p.R573H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R588H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	709					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCCTCCCCGCGGTTGGTCAC	0.587																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2125-2127)cGc>cAc		ATPase, class II, type 9A							52.0	49.0	50.0					20																	50235572		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50235572C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2126G>A	20.37:g.50235572C>T	ENSP00000342481:p.Arg709His					ATP9A_ENST00000311637.5_Missense_Mutation_p.R573H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R588H	p.R709H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			20	2390	-			709					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2126G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616244	0.87359	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.64438	-0.1;-0.1;-0.1	5.07	4.13	0.48395	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81259	0.4785	M	0.89353	3.025	0.80722	D	1	B;D	0.89917	0.022;1.0	B;D	0.83275	0.004;0.996	D	0.84655	0.0703	10	0.87932	D	0	-28.4275	13.2174	0.59867	0.0:0.9225:0.0:0.0775	.	588;709	O75110-2;O75110	.;ATP9A_HUMAN	H	573;709;588	ENSP00000309086:R573H;ENSP00000342481:R709H;ENSP00000385875:R588H	ENSP00000309086:R573H	R	-	2	0	ATP9A	49668979	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.480000	0.81109	1.121000	0.41925	0.462000	0.41574	CGC		0.587	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		16	35	0	0	0	1	0	16	35				
KRTAP4-11	653240	broad.mit.edu	37	17	39274020	39274020	+	Missense_Mutation	SNP	C	C	G	rs80129796	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39274020C>G	ENST00000391413.2	-	1	586	c.548G>C	c.(547-549)aGc>aCc	p.S183T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	183						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCGGGGGCAGCTGGAGATGAC	0.622													N|||	112	0.0223642	0.0492	0.0216	5008	,	,		20175	0.006		0.0169	False		,,,				2504	0.0092					ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(547-549)aGc>aCc		keratin associated protein 4-11							65.0	73.0	70.0					17																	39274020		692	1590	2282	SO:0001583	missense	653240					keratin filament		g.chr17:39274020C>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.548G>C	17.37:g.39274020C>G	ENSP00000375232:p.Ser183Thr						p.S183T	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	586	-		Breast(137;0.000496)	183					A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.548G>C	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	3.150	-0.174494	0.06421	.	.	ENSG00000212721	ENST00000391413	T	0.00605	6.27	3.72	3.72	0.42706	.	.	.	.	.	T	0.00271	0.0008	N	0.01410	-0.885	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32079	-0.9920	9	0.05833	T	0.94	.	11.2537	0.49041	0.0:0.1875:0.8125:0.0	.	183	Q9BYQ6	KR411_HUMAN	T	183	ENSP00000375232:S183T	ENSP00000375232:S183T	S	-	2	0	KRTAP4-11	36527546	0.990000	0.36364	1.000000	0.80357	0.691000	0.40173	-0.001000	0.12947	0.918000	0.36919	-0.281000	0.10026	AGC		0.622	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	15	0	0	0	1	0	3	15				
MYBPC2	4606	broad.mit.edu	37	19	50944328	50944328	+	Missense_Mutation	SNP	G	G	A	rs377503167		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50944328G>A	ENST00000357701.5	+	8	815	c.764G>A	c.(763-765)aGt>aAt	p.S255N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	255	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCAAGAAGAGTGCAGGTCAG	0.567																																						ENST00000357701.5																			0				breast(1)	1						c.(763-765)aGt>aAt		myosin binding protein C, fast type							25.0	26.0	26.0					19																	50944328		2056	4218	6274	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944328G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.764G>A	19.37:g.50944328G>A	ENSP00000350332:p.Ser255Asn						p.S255N	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	815	+		all_neural(266;0.057)	255			Ig-like C2-type 2.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.764G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.101543	0.76983	.	.	ENSG00000086967	ENST00000357701	T	0.57907	0.37	3.33	3.33	0.38152	.	0.000000	0.41097	U	0.000950	T	0.73001	0.3531	M	0.87456	2.885	0.44976	D	0.997997	D	0.76494	0.999	D	0.77557	0.99	T	0.74411	-0.3674	10	0.27082	T	0.32	.	14.617	0.68556	0.0:0.0:1.0:0.0	.	255	Q14324	MYPC2_HUMAN	N	255	ENSP00000350332:S255N	ENSP00000350332:S255N	S	+	2	0	MYBPC2	55636140	1.000000	0.71417	0.994000	0.49952	0.849000	0.48306	8.865000	0.92300	2.176000	0.68965	0.298000	0.19748	AGT		0.567	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	6	0	0	0	1	0	5	6				
ZBED9	114821	broad.mit.edu	37	6	28554157	28554157	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:28554157C>T	ENST00000452236.2	-	1	955	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(337-339)cGg>cAg		SCAN domain containing 3							123.0	130.0	128.0					6																	28554157		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554157C>T																												ENST00000452236.2:c.338G>A	6.37:g.28554157C>T	ENSP00000395259:p.Arg113Gln					SCAND3_ENST00000530247.1_Intron	p.R113Q	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	955	-			113			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.338G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999106	0.35226	.	.	ENSG00000232040	ENST00000452236	T	0.04049	3.72	3.46	1.66	0.24008	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.01287	0.0042	N	0.20304	0.555	0.23174	N	0.99817	P	0.48911	0.917	P	0.45881	0.496	T	0.48340	-0.9044	9	0.26408	T	0.33	.	5.6758	0.17747	0.0:0.6443:0.0:0.3557	.	113	Q6R2W3	SCND3_HUMAN	Q	113	ENSP00000395259:R113Q	ENSP00000395259:R113Q	R	-	2	0	SCAND3	28662136	0.000000	0.05858	0.683000	0.30040	0.759000	0.43091	-0.482000	0.06544	0.291000	0.22468	0.655000	0.94253	CGG		0.527	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			7	230	0	0	0	1	0	7	230				
CTNNAL1	8727	broad.mit.edu	37	9	111741628	111741628	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:111741628C>T	ENST00000325551.4	-	7	1120	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R345H|CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R345H	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	345					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCCAAGATGCGTTCTCTGTG	0.413																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1033-1035)cGc>cAc		catenin (cadherin-associated protein), alpha-like 1							150.0	136.0	141.0					9																	111741628		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111741628C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1034G>A	9.37:g.111741628C>T	ENSP00000320434:p.Arg345His					CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R345H|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.R345H	p.R345H			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	7	1113	-			345					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1034G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618144	0.46736	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.38401	1.14;1.14;1.45	5.91	5.0	0.66597	.	0.542711	0.20915	N	0.083392	T	0.18257	0.0438	N	0.10874	0.06	0.27360	N	0.955999	B;B;B;B	0.28350	0.013;0.208;0.011;0.013	B;B;B;B	0.19148	0.007;0.024;0.005;0.007	T	0.06954	-1.0798	10	0.38643	T	0.18	-6.8114	9.4908	0.38958	0.0:0.8413:0.0:0.1587	.	345;345;345;345	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	H	345	ENSP00000363723:R345H;ENSP00000320434:R345H;ENSP00000323351:R345H	ENSP00000320434:R345H	R	-	2	0	CTNNAL1	110781449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.208000	0.32345	2.793000	0.96121	0.655000	0.94253	CGC		0.413	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		20	43	0	0	0	1	0	20	43				
PCLO	27445	broad.mit.edu	37	7	82581482	82581482	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82581482G>A	ENST00000333891.9	-	5	9124	c.8787C>T	c.(8785-8787)ccC>ccT	p.P2929P	PCLO_ENST00000423517.2_Silent_p.P2929P|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAAATCAACGGGTTTTTCAT	0.428																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8785-8787)ccC>ccT		piccolo presynaptic cytomatrix protein							121.0	121.0	121.0					7																	82581482		1903	4122	6025	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581482G>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.8787C>T	7.37:g.82581482G>A						PCLO_ENST00000333891.8_Silent_p.P2929P	p.P2929P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9124	-			2860						Silent	SNP	ENST00000333891.9	37	c.8787C>T	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	121	0	0	0	1	0	13	121				
HORMAD1	84072	broad.mit.edu	37	1	150689638	150689638	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150689638C>T	ENST00000361824.2	-	3	259	c.154G>A	c.(154-156)Gct>Act	p.A52T	HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.A52T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.A52T|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2H	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	52	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCATAAGCGCATTCTGGG	0.318																																						ENST00000368993.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16						c.(154-156)Gct>Act		HORMA domain containing 1							87.0	86.0	86.0					1																	150689638		2203	4300	6503	SO:0001583	missense	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150689638C>T	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.154G>A	1.37:g.150689638C>T	ENSP00000355167:p.Ala52Thr					HORMAD1_ENST00000322343.7_Missense_Mutation_p.A52T|HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2H|HORMAD1_ENST00000361824.2_Missense_Mutation_p.A52T	p.A52T			Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	259	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		52			HORMA.		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	c.154G>A	CCDS967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.151574|5.151574	0.94645|0.94645	.|.	.|.	ENSG00000143452|ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824|ENST00000368995;ENST00000368992;ENST00000540570;ENST00000368987;ENST00000442853	T;T;T|T	0.35973|0.46451	1.33;1.28;1.33|0.87	5.46|5.46	5.46|5.46	0.80206|0.80206	DNA-binding HORMA (4);|.	0.049440|.	0.85682|.	D|.	0.000000|.	T|T	0.42108|0.42108	0.1188|0.1188	M|M	0.85041|0.85041	2.73|2.73	0.58432|0.58432	D|D	0.999999|0.999999	D;D|P	0.89917|0.49447	1.0;1.0|0.924	D;D|B	0.83275|0.40782	0.996;0.994|0.34	T|T	0.57900|0.57900	-0.7731|-0.7731	10|9	0.32370|0.66056	T|D	0.25|0.02	-17.3337|-17.3337	17.8768|17.8768	0.88827|0.88827	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	52;52|2	Q86X24-2;Q86X24|Q86X24-4	.;HORM1_HUMAN|.	T|H	52|2	ENSP00000357989:A52T;ENSP00000326489:A52T;ENSP00000355167:A52T|ENSP00000357991:R2H	ENSP00000326489:A52T|ENSP00000357983:R2H	A|R	-|-	1|2	0|0	HORMAD1|HORMAD1	148956262|148956262	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.100000|7.100000	0.76989|0.76989	2.554000|2.554000	0.86153|0.86153	0.460000|0.460000	0.39030|0.39030	GCT|CGC		0.318	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132		5	98	0	0	0	1	0	5	98				
NTNG2	84628	broad.mit.edu	37	9	135073796	135073796	+	Silent	SNP	C	C	T	rs562591810	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135073796C>T	ENST00000393229.3	+	3	1433	c.657C>T	c.(655-657)ttC>ttT	p.F219F	NTNG2_ENST00000372179.3_Silent_p.F219F|NTNG2_ENST00000393228.4_Silent_p.F219F|NTNG2_ENST00000360670.3_Silent_p.F219F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	219	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGACCGCTTCGCCATCTTTG	0.657													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18057	0.0		0.0	False		,,,				2504	0.0					ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(655-657)ttC>ttT		netrin G2							50.0	45.0	47.0					9																	135073796		2203	4299	6502	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073796C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.657C>T	9.37:g.135073796C>T						NTNG2_ENST00000372179.3_Silent_p.F219F|NTNG2_ENST00000360670.3_Silent_p.F219F|NTNG2_ENST00000393228.4_Silent_p.F219F	p.F219F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1433	+			219			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.657C>T	CCDS6946.1																																																																																				0.657	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		25	69	0	0	0	1	0	25	69				
PPL	5493	broad.mit.edu	37	16	4934404	4934404	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4934404G>A	ENST00000345988.2	-	22	4341	c.4252C>T	c.(4252-4254)Cgc>Tgc	p.R1418C	PPL_ENST00000590782.2_Missense_Mutation_p.R1416C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1418					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTACCTCGCGCTCGGCCTCC	0.701																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4252-4254)Cgc>Tgc		periplakin							33.0	36.0	35.0					16																	4934404		2099	4193	6292	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934404G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4252C>T	16.37:g.4934404G>A	ENSP00000340510:p.Arg1418Cys					PPL_ENST00000590782.2_Missense_Mutation_p.R1416C	p.R1418C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4341	-			1418					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4252C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543465	0.45280	.	.	ENSG00000118898	ENST00000345988	T	0.41758	0.99	5.44	5.44	0.79542	.	0.251074	0.33515	N	0.004830	T	0.26774	0.0655	N	0.08118	0	0.36987	D	0.894612	P	0.47762	0.9	B	0.37650	0.255	T	0.40869	-0.9540	10	0.72032	D	0.01	.	19.247	0.93906	0.0:0.0:1.0:0.0	.	1418	O60437	PEPL_HUMAN	C	1418	ENSP00000340510:R1418C	ENSP00000340510:R1418C	R	-	1	0	PPL	4874405	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.678000	0.61641	2.564000	0.86499	0.591000	0.81541	CGC		0.701	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	86	0	0	0	1	0	24	86				
FGF9	2254	broad.mit.edu	37	13	22246272	22246272	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22246272T>C	ENST00000382353.5	+	1	751	c.221T>C	c.(220-222)tTa>tCa	p.L74S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	74					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGATTTCACTTAGAAATCTTC	0.507																																					Melanoma(195;1939 2127 12623 13963 52730)	ENST00000382353.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9						c.(220-222)tTa>tCa		fibroblast growth factor 9							76.0	78.0	77.0					13																	22246272		2203	4300	6503	SO:0001583	missense	2254				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding	g.chr13:22246272T>C	D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.221T>C	13.37:g.22246272T>C	ENSP00000371790:p.Leu74Ser						p.L74S	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)	1	751	+		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)	74					A8K427|Q3SY32	Missense_Mutation	SNP	ENST00000382353.5	37	c.221T>C	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546770	0.65198	.	.	ENSG00000102678	ENST00000382353	D	0.81821	-1.54	5.24	5.24	0.73138	.	0.105596	0.39210	N	0.001421	D	0.92932	0.7751	H	0.97103	3.94	0.58432	D	0.999995	D	0.58620	0.983	D	0.70227	0.968	D	0.95186	0.8304	10	0.87932	D	0	.	15.1951	0.73081	0.0:0.0:0.0:1.0	.	74	P31371	FGF9_HUMAN	S	74	ENSP00000371790:L74S	ENSP00000371790:L74S	L	+	2	0	FGF9	21144272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.602000	0.82796	2.005000	0.58758	0.454000	0.30748	TTA		0.507	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2			40	56	0	0	0	1	0	40	56				
TTC17	55761	broad.mit.edu	37	11	43465702	43465702	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:43465702C>T	ENST00000039989.4	+	18	2622	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	TTC17_ENST00000299240.6_Missense_Mutation_p.R927C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	870					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R870C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAATGGACATCGTTACCAAGC	0.408																																						ENST00000039989.4																			1	Substitution - Missense(1)	p.R870C(1)	skin(1)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2608-2610)Cgt>Tgt		tetratricopeptide repeat domain 17							84.0	82.0	83.0					11																	43465702		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43465702C>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2608C>T	11.37:g.43465702C>T	ENSP00000039989:p.Arg870Cys					TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R927C	p.R870C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			18	2622	+			870					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2608C>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481735	0.44147	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.32515	1.45;1.45	6.05	4.16	0.48862	.	0.367696	0.31963	N	0.006784	T	0.22936	0.0554	N	0.14661	0.345	0.09310	N	1	D;P;D	0.67145	0.994;0.937;0.996	P;B;P	0.53549	0.54;0.27;0.729	T	0.05920	-1.0856	10	0.37606	T	0.19	-4.0673	3.351	0.07153	0.1271:0.5284:0.2007:0.1437	.	927;870;927	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	C	927;870	ENSP00000299240:R927C;ENSP00000039989:R870C	ENSP00000039989:R870C	R	+	1	0	TTC17	43422278	0.001000	0.12720	0.643000	0.29450	0.951000	0.60555	0.977000	0.29475	0.860000	0.35481	0.650000	0.86243	CGT		0.408	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		17	39	0	0	0	1	0	17	39				
PSMD1	5707	broad.mit.edu	37	2	231927025	231927025	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231927025G>A	ENST00000308696.6	+	3	286	c.124G>A	c.(124-126)Gta>Ata	p.V42I	PSMD1_ENST00000409643.1_Missense_Mutation_p.V42I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V42I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V42fs*1(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCCGAGTCCGTAGACAAAAT	0.303																																						ENST00000308696.6																			1	Deletion - Frameshift(1)	p.V42fs*1(1)	breast(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(124-126)Gta>Ata		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						42.0	44.0	43.0					2																	231927025		2202	4296	6498	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231927025G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.124G>A	2.37:g.231927025G>A	ENSP00000309474:p.Val42Ile					PSMD1_ENST00000409643.1_Missense_Mutation_p.V42I|PSMD1_ENST00000373635.4_Missense_Mutation_p.V42I	p.V42I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	3	286	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	42					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.124G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680052	0.29783	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.32515	1.45;1.45;1.45	5.96	5.96	0.96718	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.05177	-0.1	0.80722	D	1	B;B	0.15141	0.004;0.012	B;B	0.09377	0.002;0.004	T	0.14924	-1.0455	10	0.02654	T	1	-0.065	20.422	0.99049	0.0:0.0:1.0:0.0	.	42;42	Q99460;Q99460-2	PSMD1_HUMAN;.	I	42	ENSP00000309474:V42I;ENSP00000362738:V42I;ENSP00000386932:V42I	ENSP00000309474:V42I	V	+	1	0	PSMD1	231635269	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.750000	0.98875	2.832000	0.97577	0.655000	0.94253	GTA		0.303	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			9	16	0	0	0	1	0	9	16				
MAP3K10	4294	broad.mit.edu	37	19	40711065	40711065	+	Silent	SNP	C	C	T	rs375223270	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40711065C>T	ENST00000253055.3	+	4	1338	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCCAGATTTCGGTAGCATCT	0.597													C|||	3	0.000599042	0.0	0.0	5008	,	,		17061	0.0		0.0	False		,,,				2504	0.0031					ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1048-1050)ttC>ttT		mitogen-activated protein kinase kinase kinase 10							83.0	87.0	86.0					19																	40711065		2203	4300	6503	SO:0001819	synonymous_variant	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40711065C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1050C>T	19.37:g.40711065C>T							p.F350F	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			4	1338	+			350			Protein kinase.		Q12761|Q14871	Silent	SNP	ENST00000253055.3	37	c.1050C>T	CCDS12549.1																																																																																				0.597	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		14	153	0	0	0	1	0	14	153				
MUC5B	727897	broad.mit.edu	37	11	1262500	1262500	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1262500G>A	ENST00000529681.1	+	31	4448	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.E1467K	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1464	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAGCAACCGAAAAGACCAC	0.706																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(4399-4401)Gaa>Aaa		mucin 5B, oligomeric mucus/gel-forming							47.0	56.0	53.0					11																	1262500		2009	4144	6153	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1262500G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4390G>A	11.37:g.1262500G>A	ENSP00000436812:p.Glu1464Lys					MUC5B_ENST00000529681.1_Missense_Mutation_p.E1464K	p.E1467K			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	4457	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1464			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4399G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	12.08	1.830130	0.32329	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16897	2.31;2.49	3.81	-7.62	0.01294	.	.	.	.	.	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	B;B	0.18968	0.032;0.032	B;B	0.06405	0.002;0.002	T	0.41142	-0.9525	9	0.87932	D	0	.	4.9526	0.14023	0.2381:0.5079:0.1529:0.101	.	2157;1467	A7Y9J9;E9PBJ0	.;.	K	1464;1467;1465;1534	ENSP00000436812:E1464K;ENSP00000415793:E1467K	ENSP00000343037:E1465K	E	+	1	0	MUC5B	1219076	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-0.244000	0.08903	-1.021000	0.03350	0.306000	0.20318	GAA		0.706	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		5	7	0	0	0	1	0	5	7				
DAB2IP	153090	broad.mit.edu	37	9	124535156	124535156	+	Silent	SNP	C	C	T	rs377593194		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:124535156C>T	ENST00000408936.3	+	12	2531	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	DAB2IP_ENST00000259371.2_Silent_p.A755A|DAB2IP_ENST00000309989.1_Silent_p.A659A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	783	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2347-2349)gcC>gcT		DAB2 interacting protein		C	,	1,4183		0,1,2091	7.0	9.0	9.0		2265,1977	-5.6	1.0	9		9	2,8182		0,2,4090	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,3,6181	TT,TC,CC		0.0244,0.0239,0.0243	,	755/1133,659/1066	124535156	3,12365	2092	4092	6184	SO:0001819	synonymous_variant	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535156C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2349C>T	9.37:g.124535156C>T						DAB2IP_ENST00000309989.1_Silent_p.A659A|DAB2IP_ENST00000259371.2_Silent_p.A755A	p.A783A			Q5VWQ8	DAB2P_HUMAN			12	2531	+			783					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	ENST00000408936.3	37	c.2349C>T																																																																																					0.756	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		9	20	0	0	0	1	0	9	20				
METTL24	728464	broad.mit.edu	37	6	110636575	110636575	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:110636575C>T	ENST00000338882.4	-	3	526	c.527G>A	c.(526-528)cGc>cAc	p.R176H		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	176						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										CTGCTTGTTGCGGATTTGATG	0.458																																						ENST00000338882.4																			0											c.(526-528)cGc>cAc		methyltransferase like 24							171.0	151.0	157.0					6																	110636575		1568	3582	5150	SO:0001583	missense	728464					extracellular region		g.chr6:110636575C>T		CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.527G>A	6.37:g.110636575C>T	ENSP00000344071:p.Arg176His						p.R176H	NM_001123364.1	NP_001116836.1	Q5JXM2	CF186_HUMAN			3	526	-			176					Q6ZSU5	Missense_Mutation	SNP	ENST00000338882.4	37	c.527G>A	CCDS43489.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668425	0.29604	.	.	ENSG00000053328	ENST00000338882	T	0.44881	0.91	5.42	-1.08	0.09936	.	0.442766	0.23949	N	0.042967	T	0.14787	0.0357	L	0.35854	1.095	0.36832	D	0.88692	B	0.14012	0.009	B	0.12837	0.008	T	0.08659	-1.0711	10	0.51188	T	0.08	-3.9002	10.2843	0.43558	0.0:0.4182:0.0:0.5818	.	176	Q5JXM2	CF186_HUMAN	H	176	ENSP00000344071:R176H	ENSP00000344071:R176H	R	-	2	0	C6orf186	110743268	0.251000	0.23961	0.210000	0.23637	0.910000	0.53928	0.027000	0.13621	-0.171000	0.10797	-0.793000	0.03317	CGC		0.458	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041794.1	NM_001123364		6	133	0	0	0	1	0	6	133				
PHLPP2	23035	broad.mit.edu	37	16	71748731	71748731	+	Intron	SNP	G	G	A	rs369341062		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:71748731G>A	ENST00000568954.1	-	2	373				PHLPP2_ENST00000356272.3_5'Flank|PHLPP2_ENST00000567016.1_Intron|PHLPP2_ENST00000393524.2_De_novo_Start_OutOfFrame|PHLPP2_ENST00000360429.3_5'Flank			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAAAGAAATCGTTAGCTAGAA	0.388																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37								PH domain and leucine rich repeat protein phosphatase 2		G		0,4396		0,0,2198	37.0	36.0	36.0			2.0	0.2	16		36	1,8599	1.2+/-3.3	0,1,4299	no	near-gene-5				0,1,6497	AA,AG,GG		0.0116,0.0,0.0077			71748731	1,12995	2198	4300	6498	SO:0001627	intron_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71748731G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.6-27C>T	16.37:g.71748731G>A						PHLPP2_ENST00000568954.1_Intron|PHLPP2_ENST00000567016.1_Intron				Q6ZVD8	PHLP2_HUMAN			0	701	-								A1L374|Q9NV17|Q9Y2E3	Translation_Start_Site	SNP	ENST00000568954.1	37		CCDS32479.1																																																																																				0.388	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		9	8	0	0	0	1	0	9	8				
CPB2	1361	broad.mit.edu	37	13	46629960	46629960	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:46629960G>A	ENST00000181383.4	-	10	1040	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R305C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	342					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCAATAGCACGAACTGCTTCA	0.343																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1024-1026)Cgt>Tgt		carboxypeptidase B2 (plasma)							92.0	92.0	92.0					13																	46629960		2203	4299	6502	SO:0001583	missense	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46629960G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.1024C>T	13.37:g.46629960G>A	ENSP00000181383:p.Arg342Cys					CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R305C|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.R342C	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	10	1040	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	342					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	ENST00000181383.4	37	c.1024C>T	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359635	0.61403	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.31769	1.48;2.78	5.44	1.41	0.22369	Peptidase M14, carboxypeptidase A (2);	0.917807	0.09507	N	0.792868	T	0.34629	0.0904	L	0.46157	1.445	0.31526	N	0.661749	D;D	0.76494	0.998;0.999	P;P	0.54346	0.711;0.749	T	0.44742	-0.9308	10	0.66056	D	0.02	.	3.0528	0.06174	0.1633:0.2754:0.4448:0.1165	.	305;342	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	C	342;305	ENSP00000181383:R342C;ENSP00000400714:R305C	ENSP00000181383:R342C	R	-	1	0	CPB2	45527961	0.001000	0.12720	0.648000	0.29521	0.880000	0.50808	0.126000	0.15769	0.679000	0.31345	0.561000	0.74099	CGT		0.343	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		18	54	0	0	0	1	0	18	54				
CNOT7	29883	broad.mit.edu	37	8	17102627	17102627	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:17102627A>C	ENST00000361272.4	-	2	333	c.35T>G	c.(34-36)aTt>aGt	p.I12S	VPS37A_ENST00000324849.4_5'Flank|VPS37A_ENST00000324815.3_5'Flank|VPS37A_ENST00000521829.1_5'Flank|CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Missense_Mutation_p.I12S|VPS37A_ENST00000521005.1_5'Flank	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	12					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AACTTCACAAATTCTTTGGCT	0.398																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(34-36)aTt>aGt		CCR4-NOT transcription complex, subunit 7							60.0	58.0	58.0					8																	17102627		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17102627A>C	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.35T>G	8.37:g.17102627A>C	ENSP00000355279:p.Ile12Ser					CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Missense_Mutation_p.I12S	p.I12S	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	2	333	-			12					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.35T>G	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395879	0.83011	.	.	ENSG00000198791	ENST00000361272;ENST00000523917;ENST00000524358;ENST00000520178	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.77	4.77	0.60923	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82944	-0.0206	10	0.87932	D	0	-12.3301	14.9907	0.71387	1.0:0.0:0.0:0.0	.	12;12	G3V108;Q9UIV1	.;CNOT7_HUMAN	S	12	ENSP00000355279:I12S;ENSP00000429093:I12S;ENSP00000430160:I12S;ENSP00000429079:I12S	ENSP00000355279:I12S	I	-	2	0	CNOT7	17146998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.086000	0.62901	0.528000	0.53228	ATT		0.398	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		14	29	0	0	0	1	0	14	29				
PCDHGA10	56106	broad.mit.edu	37	5	140792918	140792918	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140792918C>T	ENST00000398610.2	+	1	176	c.176C>T	c.(175-177)gCg>gTg	p.A59V	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	59	Cadherin 1. {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(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTCTGGCGCCCCGGGAG	0.607																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(175-177)gCg>gTg									56.0	69.0	65.0					5																	140792918		2057	4235	6292	SO:0001583	missense	0							g.chr5:140792918C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.176C>T	5.37:g.140792918C>T	ENSP00000381611:p.Ala59Val					PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron	p.A59V	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	176	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.176C>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	10.56	1.383806	0.25031	.	.	ENSG00000253846	ENST00000398610	T	0.27720	1.65	5.62	3.23	0.37069	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28167	0.0695	N	0.25485	0.75	0.23023	N	0.99842	B;B	0.31989	0.301;0.35	B;B	0.38655	0.119;0.278	T	0.26430	-1.0103	9	0.72032	D	0.01	.	12.9178	0.58214	0.7997:0.2003:0.0:0.0	.	59;59	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	59	ENSP00000381611:A59V	ENSP00000381611:A59V	A	+	2	0	PCDHGA10	140773102	0.998000	0.40836	0.998000	0.56505	0.111000	0.19643	3.062000	0.49971	0.410000	0.25675	-0.321000	0.08615	GCG		0.607	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		7	182	0	0	0	1	0	7	182				
FSTL5	56884	broad.mit.edu	37	4	162680660	162680660	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:162680660G>A	ENST00000306100.5	-	6	1066	c.630C>T	c.(628-630)ggC>ggT	p.G210G	FSTL5_ENST00000536695.1_Silent_p.G209G|FSTL5_ENST00000427802.2_Silent_p.G209G|FSTL5_ENST00000379164.4_Silent_p.G209G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	210	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGATCCTTGCCAAGTTCTT	0.284																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(628-630)ggC>ggT		follistatin-like 5							85.0	93.0	90.0					4																	162680660		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162680660G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.630C>T	4.37:g.162680660G>A						FSTL5_ENST00000427802.2_Silent_p.G209G|FSTL5_ENST00000379164.4_Silent_p.G209G|FSTL5_ENST00000536695.1_Silent_p.G209G	p.G210G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1066	-	all_hematologic(180;0.24)		210			EF-hand 1.		E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.630C>T	CCDS3802.1																																																																																				0.284	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		17	50	0	0	0	1	0	17	50				
ARHGEF15	22899	broad.mit.edu	37	17	8215392	8215392	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8215392C>T	ENST00000361926.3	+	2	145	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P12L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	12	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAACACCCCCCACGCAGAAG	0.637																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(34-36)cCc>cTc		Rho guanine nucleotide exchange factor (GEF) 15							67.0	72.0	70.0					17																	8215392		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215392C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.35C>T	17.37:g.8215392C>T	ENSP00000355026:p.Pro12Leu					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P12L	p.P12L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	145	+			12			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.35C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114810	0.37339	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81330	-1.48;-1.48	4.76	4.76	0.60689	.	0.000000	0.47093	D	0.000249	D	0.83198	0.5202	L	0.29908	0.895	0.40696	D	0.982444	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.85364	0.1109	10	0.87932	D	0	-12.5731	13.1962	0.59740	0.0:1.0:0.0:0.0	.	12;12	D3DTR7;O94989	.;ARHGF_HUMAN	L	12	ENSP00000355026:P12L;ENSP00000412505:P12L	ENSP00000355026:P12L	P	+	2	0	ARHGEF15	8156117	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	2.235000	0.43044	2.491000	0.84063	0.650000	0.86243	CCC		0.637	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		10	85	0	0	0	1	0	10	85				
RHBDF1	64285	broad.mit.edu	37	16	114720	114720	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:114720C>T	ENST00000262316.6	-	3	367	c.225G>A	c.(223-225)acG>acA	p.T75T	RHBDF1_ENST00000454039.2_Silent_p.T75T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	75					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTGTGATGGACGTCTGGCGTT	0.642																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(223-225)acG>acA		rhomboid 5 homolog 1 (Drosophila)							121.0	123.0	122.0					16																	114720		2203	4300	6503	SO:0001819	synonymous_variant	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:114720C>T	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.225G>A	16.37:g.114720C>T						RHBDF1_ENST00000454039.2_Silent_p.T75T	p.T75T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			3	367	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	75					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	c.225G>A	CCDS32344.1																																																																																				0.642	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		5	151	0	0	0	1	0	5	151				
PKD1	5310	broad.mit.edu	37	16	2160097	2160097	+	Missense_Mutation	SNP	C	C	T	rs552542784		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2160097C>T	ENST00000262304.4	-	15	5279	c.5071G>A	c.(5071-5073)Ggc>Agc	p.G1691S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1691S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1691	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGTAGGTGCCGGCCTCGAGC	0.687																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(5071-5073)Ggc>Agc		polycystic kidney disease 1 (autosomal dominant)							15.0	16.0	15.0					16																	2160097		2172	4283	6455	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160097C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5071G>A	16.37:g.2160097C>T	ENSP00000262304:p.Gly1691Ser					PKD1_ENST00000423118.1_Missense_Mutation_p.G1691S	p.G1691S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5279	-			1691			PKD 12.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.5071G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	10.52	1.373048	0.24857	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.78126	-1.15;-1.15	5.41	1.05	0.20165	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	0.169048	0.51477	N	0.000088	T	0.64170	0.2574	L	0.29908	0.895	0.32912	D	0.514591	B;P	0.43578	0.172;0.811	B;B	0.41466	0.047;0.358	T	0.66866	-0.5815	10	0.41790	T	0.15	.	8.6594	0.34084	0.0:0.6697:0.0:0.3303	.	1691;1691	P98161-3;P98161	.;PKD1_HUMAN	S	1691;1691;1223	ENSP00000262304:G1691S;ENSP00000399501:G1691S	ENSP00000262304:G1691S	G	-	1	0	PKD1	2100098	0.949000	0.32298	0.106000	0.21319	0.040000	0.13550	2.315000	0.43752	-0.043000	0.13513	-1.108000	0.02087	GGC		0.687	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			9	13	0	0	0	1	0	9	13				
TTLL12	23170	broad.mit.edu	37	22	43568521	43568521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43568521G>A	ENST00000216129.6	-	10	1444	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	461	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACGTCTTCTCGAAGGAACAAC	0.587																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(1381-1383)Cga>Tga		tubulin tyrosine ligase-like family, member 12							189.0	136.0	154.0					22																	43568521		2203	4300	6503	SO:0001587	stop_gained	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43568521G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1381C>T	22.37:g.43568521G>A	ENSP00000216129:p.Arg461*						p.R461*	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			10	1444	-		Ovarian(80;0.221)|Glioma(61;0.222)	461			TTL.		Q20WK5|Q9UGU3	Nonsense_Mutation	SNP	ENST00000216129.6	37	c.1381C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	37	6.354811	0.97498	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	.	.	.	5.31	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8756	15.2333	0.73407	0.0:0.0:0.8581:0.1419	.	.	.	.	X	461	.	ENSP00000216129:R461X	R	-	1	2	TTLL12	41898465	1.000000	0.71417	0.719000	0.30619	0.434000	0.31775	4.328000	0.59253	1.197000	0.43143	0.561000	0.74099	CGA		0.587	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		12	67	0	0	0	1	0	12	67				
DISP1	84976	broad.mit.edu	37	1	223178967	223178967	+	Missense_Mutation	SNP	G	G	A	rs148545972	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:223178967G>A	ENST00000284476.6	+	8	4392	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1410					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCGACCCCGAGAATAAACA	0.478													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20355	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(4228-4230)Gag>Aag		dispatched homolog 1 (Drosophila)							72.0	74.0	74.0					1																	223178967		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178967G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4228G>A	1.37:g.223178967G>A	ENSP00000284476:p.Glu1410Lys						p.E1410K	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4392	+			1410					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4228G>A	CCDS1536.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.20	3.054996	0.55325	.	.	ENSG00000154309	ENST00000284476	D	0.92048	-2.96	5.95	3.99	0.46301	.	0.533336	0.20503	N	0.091044	D	0.86272	0.5893	L	0.32530	0.975	0.29975	N	0.818233	B	0.14438	0.01	B	0.04013	0.001	T	0.81378	-0.0960	10	0.46703	T	0.11	-9.3824	10.064	0.42292	0.0719:0.1367:0.7914:0.0	.	1410	Q96F81	DISP1_HUMAN	K	1410	ENSP00000284476:E1410K	ENSP00000284476:E1410K	E	+	1	0	DISP1	221245590	0.031000	0.19500	0.054000	0.19295	0.100000	0.18952	1.656000	0.37355	1.524000	0.49035	0.655000	0.94253	GAG		0.478	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		30	59	0	0	0	1	0	30	59				
CINP	51550	broad.mit.edu	37	14	102816276	102816276	+	Missense_Mutation	SNP	G	G	A	rs374421517		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102816276G>A	ENST00000216756.6	-	4	456	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CINP_ENST00000560326.1_5'Flank|CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.T154M	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	139					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TGTAGGCCACGTGTGGAACAG	0.418																																						ENST00000216756.6																			0				large_intestine(2)|lung(2)	4						c.(415-417)aCg>aTg		cyclin-dependent kinase 2 interacting protein		G	MET/THR,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	117.0	116.0	116.0		461,,416	5.0	0.8	14		116	0,8600		0,0,4300	no	missense,intron,missense	CINP	NM_001177611.1,NM_001177612.1,NM_032630.2	81,,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,probably-damaging	154/228,,139/213	102816276	1,13005	2203	4300	6503	SO:0001583	missense	51550				cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding	g.chr14:102816276G>A	AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.416C>T	14.37:g.102816276G>A	ENSP00000216756:p.Thr139Met					CINP_ENST00000536961.2_Missense_Mutation_p.T154M|CINP_ENST00000541568.2_Intron	p.T139M	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN			4	456	-			139					F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	ENST00000216756.6	37	c.416C>T	CCDS9972.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783536	0.70222	2.27E-4	0.0	ENSG00000100865	ENST00000216756;ENST00000536961	T;T	0.63744	-0.01;-0.06	5.9	5.02	0.67125	.	0.052674	0.85682	D	0.000000	T	0.76097	0.3940	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	P	0.57548	0.823	T	0.79732	-0.1680	10	0.56958	D	0.05	-6.4792	14.9213	0.70841	0.0683:0.0:0.9317:0.0	.	139	Q9BW66	CINP_HUMAN	M	139;154	ENSP00000216756:T139M;ENSP00000442057:T154M	ENSP00000216756:T139M	T	-	2	0	CINP	101886029	1.000000	0.71417	0.849000	0.33467	0.626000	0.37791	5.706000	0.68362	1.517000	0.48917	0.655000	0.94253	ACG		0.418	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415055.1	NM_032630		15	47	0	0	0	1	0	15	47				
NMRAL1	57407	broad.mit.edu	37	16	4516290	4516290	+	Silent	SNP	G	G	A	rs145734906		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4516290G>A	ENST00000574733.1	-	4	1122	c.393C>T	c.(391-393)gaC>gaT	p.D131D	NMRAL1_ENST00000283429.6_Silent_p.D131D|NMRAL1_ENST00000574425.1_Silent_p.D131D|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000404295.3_Silent_p.D131D			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	131						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCCTTTGCCGTCAAAGTGCG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17262	0.001		0.0	False		,,,				2504	0.0					ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(391-393)gaC>gaT		NmrA-like family domain containing 1		G		0,4394		0,0,2197	66.0	63.0	64.0		393	-5.0	0.9	16	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NMRAL1	NM_020677.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		131/300	4516290	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4516290G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.393C>T	16.37:g.4516290G>A						NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000283429.6_Silent_p.D131D|NMRAL1_ENST00000574425.1_Silent_p.D131D|NMRAL1_ENST00000404295.3_Silent_p.D131D	p.D131D			Q9HBL8	NMRL1_HUMAN			4	1122	-			131						Silent	SNP	ENST00000574733.1	37	c.393C>T	CCDS10516.1																																																																																				0.592	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		13	39	0	0	0	1	0	13	39				
MRGPRX1	259249	broad.mit.edu	37	11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18956195G>A	ENST00000302797.3	-	1	361	c.137C>T	c.(136-138)gCa>gTa	p.A46V	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	46					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCACAACTGCGTTTCCTGT	0.582																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(136-138)gCa>gTa		MAS-related GPR, member X1							170.0	161.0	164.0					11																	18956195		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956195G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.137C>T	11.37:g.18956195G>A	ENSP00000305766:p.Ala46Val					MRGPRX1_ENST00000526914.1_5'UTR	p.A46V	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	361	-			46					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.137C>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.535966	0.45176	.	.	ENSG00000170255	ENST00000302797	T	0.09538	2.97	2.43	-0.891	0.10573	GPCR, rhodopsin-like superfamily (1);	0.959312	0.08638	N	0.915990	T	0.18299	0.0439	M	0.70842	2.15	0.09310	N	1	P	0.44344	0.833	P	0.49085	0.6	T	0.20974	-1.0259	10	0.59425	D	0.04	.	5.8184	0.18514	0.1241:0.3731:0.5028:0.0	.	46	Q96LB2	MRGX1_HUMAN	V	46	ENSP00000305766:A46V	ENSP00000305766:A46V	A	-	2	0	MRGPRX1	18912771	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-0.447000	0.06828	-0.196000	0.10366	0.491000	0.48974	GCA		0.582	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		73	357	0	0	0	1	0	73	357				
RFX7	64864	broad.mit.edu	37	15	56388644	56388644	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:56388644G>A	ENST00000559447.2	-	9	1262	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	RFX7_ENST00000423270.1_Missense_Mutation_p.R428C|RFX7_ENST00000317318.6_Missense_Mutation_p.R428C|RFX7_ENST00000422057.1_Missense_Mutation_p.R331C			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	331					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGGTAACGGTGCCGGGCA	0.532																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1282-1284)Cgt>Tgt		regulatory factor X, 7							136.0	137.0	136.0					15																	56388644		2050	4193	6243	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56388644G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.991C>T	15.37:g.56388644G>A	ENSP00000453281:p.Arg331Cys					RFX7_ENST00000422057.1_Missense_Mutation_p.R331C|RFX7_ENST00000559447.2_Missense_Mutation_p.R331C|RFX7_ENST00000317318.6_Missense_Mutation_p.R428C	p.R428C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			9	1281	-			331					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.1282C>T		.	.	.	.	.	.	.	.	.	.	G	23.2	4.386922	0.82902	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.66815	-0.21;-0.23;-0.21	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.73401	0.3582	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.76921	-0.2780	10	0.87932	D	0	-10.8319	18.5965	0.91231	0.0:0.0:1.0:0.0	.	331;331	Q2KHR2;C9JU50	RFX7_HUMAN;.	C	331;428;428	ENSP00000387504:R331C;ENSP00000313299:R428C;ENSP00000397644:R428C	ENSP00000313299:R428C	R	-	1	0	RFX7	54175936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.698000	0.92095	0.655000	0.94253	CGT		0.532	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		10	31	0	0	0	1	0	10	31				
DHX33	56919	broad.mit.edu	37	17	5365760	5365760	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:5365760C>T	ENST00000225296.3	-	3	757	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTATTTCCGAAGCAAAGA	0.458																																						ENST00000225296.3																			0				breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(556-558)cGg>cAg		DEAH (Asp-Glu-Ala-His) box polypeptide 33							111.0	100.0	104.0					17																	5365760		2203	4300	6503	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5365760C>T	AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.557G>A	17.37:g.5365760C>T	ENSP00000225296:p.Arg186Gln					DHX33_ENST00000433302.3_Intron	p.R186Q	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			3	757	-			186			Helicase ATP-binding.		B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.557G>A	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783746	0.49891	.	.	ENSG00000005100	ENST00000225296	T	0.02579	4.24	5.87	5.87	0.94306	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.116965	0.64402	D	0.000015	T	0.03053	0.0090	N	0.25890	0.77	0.80722	D	1	B	0.24823	0.112	B	0.22753	0.041	T	0.57700	-0.7766	10	0.30854	T	0.27	.	14.3963	0.67013	0.0:0.9277:0.0:0.0723	.	186	Q9H6R0	DHX33_HUMAN	Q	186	ENSP00000225296:R186Q	ENSP00000225296:R186Q	R	-	2	0	DHX33	5306484	0.991000	0.36638	1.000000	0.80357	0.719000	0.41307	2.009000	0.40903	2.778000	0.95560	0.650000	0.86243	CGG		0.458	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		29	75	0	0	0	1	0	29	75				
NUTM2F	54754	broad.mit.edu	37	9	97088128	97088128	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:97088128G>A	ENST00000253262.4	-	2	125	c.105C>T	c.(103-105)ccC>ccT	p.P35P	NUTM2F_ENST00000341207.4_Silent_p.P35P|NUTM2F_ENST00000335456.7_Silent_p.P35P	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	35																	GTGCTGGGCCGGGAGCGGGTG	0.667																																						ENST00000335456.7																			0											c.(103-105)ccC>ccT		NUT family member 2F							30.0	33.0	32.0					9																	97088128		1984	4144	6128	SO:0001819	synonymous_variant	54754							g.chr9:97088128G>A		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.105C>T	9.37:g.97088128G>A						NUTM2F_ENST00000341207.4_Silent_p.P35P|NUTM2F_ENST00000253262.4_Silent_p.P35P	p.P35P							2	125	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.105C>T	CCDS47994.1																																																																																				0.667	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		19	41	0	0	0	1	0	19	41				
ANKS6	203286	broad.mit.edu	37	9	101552591	101552591	+	Silent	SNP	G	G	A	rs374878706		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:101552591G>A	ENST00000353234.4	-	2	704	c.657C>T	c.(655-657)caC>caT	p.H219H	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Silent_p.H24H|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.H219H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	219						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCGGGCTGCGTGGTTGGGGT	0.692																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(655-657)caC>caT		ankyrin repeat and sterile alpha motif domain containing 6		G		1,4079		0,1,2039	36.0	40.0	39.0		657	-0.2	0.0	9		39	0,8344		0,0,4172	no	coding-synonymous	ANKS6	NM_173551.3		0,1,6211	AA,AG,GG		0.0,0.0245,0.0080		219/872	101552591	1,12423	2040	4172	6212	SO:0001819	synonymous_variant	203286							g.chr9:101552591G>A	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.657C>T	9.37:g.101552591G>A						ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.H219H|ANKS6_ENST00000540940.1_Silent_p.H24H|ANKS6_ENST00000471846.1_5'UTR	p.H219H			Q68DC2	ANKS6_HUMAN			2	704	-		Acute lymphoblastic leukemia(62;0.0527)	219					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.657C>T	CCDS43856.1																																																																																				0.692	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		4	87	0	0	0	1	0	4	87				
PFKFB4	5210	broad.mit.edu	37	3	48559455	48559455	+	Silent	SNP	G	G	A	rs368202893		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48559455G>A	ENST00000232375.3	-	13	1426	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	PFKFB4_ENST00000416568.1_Silent_p.N431N|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.N404N|PFKFB4_ENST00000383734.2_Silent_p.N403N|PFKFB4_ENST00000536104.1_Silent_p.N427N	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	438	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCAGCCACGTTCAGGAATA	0.557																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1312-1314)aaC>aaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							149.0	116.0	127.0					3																	48559455		2203	4300	6503	SO:0001819	synonymous_variant	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48559455G>A	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1314C>T	3.37:g.48559455G>A						PFKFB4_ENST00000383734.2_Silent_p.N403N|PFKFB4_ENST00000541519.1_Silent_p.N404N|PFKFB4_ENST00000536104.1_Silent_p.N427N|PFKFB4_ENST00000416568.1_Silent_p.N431N|PFKFB4_ENST00000490115.1_5'UTR	p.N438N	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	13	1426	-			438			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Silent	SNP	ENST00000232375.3	37	c.1314C>T	CCDS2771.1																																																																																				0.557	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		17	64	0	0	0	1	0	17	64				
USP36	57602	broad.mit.edu	37	17	76831511	76831511	+	Missense_Mutation	SNP	C	C	T	rs148226667		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:76831511C>T	ENST00000542802.3	-	4	769	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	USP36_ENST00000589424.1_Missense_Mutation_p.R109Q|USP36_ENST00000312010.6_Missense_Mutation_p.R109Q|USP36_ENST00000590546.2_Missense_Mutation_p.R109Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	109					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGAGACAGTCGCTCCGTGGG	0.582																																						ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(325-327)cGa>cAa		ubiquitin specific peptidase 36		C	GLN/ARG	0,4406		0,0,2203	106.0	77.0	87.0		326	1.2	0.2	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP36	NM_025090.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	109/1124	76831511	1,13005	2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76831511C>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.326G>A	17.37:g.76831511C>T	ENSP00000441214:p.Arg109Gln					USP36_ENST00000589424.1_Missense_Mutation_p.R109Q|USP36_ENST00000590546.2_Missense_Mutation_p.R109Q|USP36_ENST00000542802.2_Missense_Mutation_p.R109Q	p.R109Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		4	650	-			109					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.326G>A	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585844	0.28268	0.0	1.16E-4	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.07688	3.17;3.17	5.4	1.22	0.21188	.	0.182969	0.47455	N	0.000222	T	0.08626	0.0214	M	0.65975	2.015	0.80722	D	1	B;B	0.31859	0.343;0.28	B;B	0.20767	0.023;0.031	T	0.13388	-1.0511	10	0.51188	T	0.08	-13.1349	8.5095	0.33208	0.0:0.6214:0.0:0.3786	.	109;109	Q8IXW9;Q9P275-2	.;.	Q	109	ENSP00000310590:R109Q;ENSP00000441214:R109Q	ENSP00000310590:R109Q	R	-	2	0	USP36	74343106	0.045000	0.20229	0.214000	0.23707	0.053000	0.15095	0.438000	0.21559	0.021000	0.15133	0.561000	0.74099	CGA		0.582	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		9	30	0	0	0	1	0	9	30				
GRIK3	2899	broad.mit.edu	37	1	37316002	37316002	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:37316002G>A	ENST00000373091.3	-	9	1252	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	GRIK3_ENST00000373093.4_Silent_p.D412D|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	412					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGTTGAGCCCGTCGGCAGGAC	0.537																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1234-1236)gaC>gaT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						107.0	98.0	101.0					1																	37316002		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37316002G>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1236C>T	1.37:g.37316002G>A						GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.D412D	p.D412D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			9	1252	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	412					A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1236C>T	CCDS416.1																																																																																				0.537	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		23	36	0	0	0	1	0	23	36				
CAMSAP3	57662	broad.mit.edu	37	19	7677626	7677626	+	Silent	SNP	G	G	A	rs555103286		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7677626G>A	ENST00000160298.4	+	11	2348	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	CAMSAP3_ENST00000446248.2_Silent_p.T776T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	749	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGGCCCCACGACGGGGCCCA	0.766																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(2326-2328)acG>acA		calmodulin regulated spectrin-associated protein family, member 3							2.0	2.0	2.0					19																	7677626		1211	2901	4112	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677626G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.2247G>A	19.37:g.7677626G>A						CAMSAP3_ENST00000160298.4_Silent_p.T749T	p.T776T	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	2429	+			749			Pro-rich.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.2328G>A	CCDS42489.1																																																																																				0.766	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		5	5	0	0	0	1	0	5	5				
DNAH2	146754	broad.mit.edu	37	17	7700833	7700833	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7700833C>T	ENST00000572933.1	+	52	9525	c.8065C>T	c.(8065-8067)Cgt>Tgt	p.R2689C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2689C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2689					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCAAGCGTCCTCCTAT	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8065-8067)Cgt>Tgt		dynein, axonemal, heavy chain 2							137.0	140.0	139.0					17																	7700833		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700833C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8065C>T	17.37:g.7700833C>T	ENSP00000458355:p.Arg2689Cys					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2689C	p.R2689C			Q9P225	DYH2_HUMAN			52	9525	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2689					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8065C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183507	0.57800	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.26518	1.73	5.19	5.19	0.71726	.	0.082214	0.52532	D	0.000061	T	0.38506	0.1043	M	0.85630	2.765	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.37641	-0.9697	10	0.72032	D	0.01	.	17.6502	0.88161	0.0:1.0:0.0:0.0	.	2689	Q9P225	DYH2_HUMAN	C	2689	ENSP00000373825:R2689C	ENSP00000353818:R2689C	R	+	1	0	DNAH2	7641558	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	3.846000	0.55888	2.706000	0.92434	0.650000	0.86243	CGT		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	189	0	0	0	1	0	4	189				
LENG1	79165	broad.mit.edu	37	19	54663422	54663422	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54663422C>T	ENST00000222224.3	-	1	198	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	4										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTGGGCAAGATATTCA	0.627											OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000222224.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8						c.(10-12)ttG>ttA		leukocyte receptor cluster (LRC) member 1							38.0	30.0	33.0					19																	54663422		2203	4300	6503	SO:0001819	synonymous_variant	79165							g.chr19:54663422C>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.12G>A	19.37:g.54663422C>T			OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1002		p.L4L	NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN			1	198	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		4					Q9HCU7	Silent	SNP	ENST00000222224.3	37	c.12G>A	CCDS12881.1																																																																																				0.627	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		5	15	0	0	0	1	0	5	15				
SERPINE2	5270	broad.mit.edu	37	2	224849604	224849604	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:224849604C>T	ENST00000258405.4	-	5	991	c.749G>A	c.(748-750)aGc>aAc	p.S250N	SERPINE2_ENST00000409304.1_Missense_Mutation_p.S250N|SERPINE2_ENST00000447280.2_Missense_Mutation_p.S262N|SERPINE2_ENST00000409840.3_Missense_Mutation_p.S250N	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	250					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATGCTGATGCTTTCCCCGTG	0.502																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.(748-750)aGc>aAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							154.0	140.0	145.0					2																	224849604		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224849604C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.749G>A	2.37:g.224849604C>T	ENSP00000258405:p.Ser250Asn					SERPINE2_ENST00000447280.2_Missense_Mutation_p.S262N|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S250N|SERPINE2_ENST00000258405.4_Missense_Mutation_p.S250N	p.S250N			P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1409	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	250					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.749G>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002890	0.74932	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.97	5.09	0.68999	Serpin domain (3);	0.172883	0.64402	D	0.000006	T	0.82144	0.4973	N	0.25286	0.73	0.44798	D	0.997801	D;D	0.60575	0.988;0.988	P;P	0.60173	0.87;0.82	T	0.82442	-0.0455	10	0.45353	T	0.12	.	11.5543	0.50739	0.1348:0.6317:0.2335:0.0	.	262;250	B4DIF2;P07093	.;GDN_HUMAN	N	250;250;250;262;250	ENSP00000386412:S250N;ENSP00000258405:S250N;ENSP00000386969:S250N;ENSP00000415786:S262N;ENSP00000408452:S250N	ENSP00000258405:S250N	S	-	2	0	SERPINE2	224557848	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	1.799000	0.38824	1.515000	0.48885	0.655000	0.94253	AGC		0.502	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		15	47	0	0	0	1	0	15	47				
RANBP17	64901	broad.mit.edu	37	5	170725811	170725811	+	Silent	SNP	G	G	A	rs148315082		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170725811G>A	ENST00000523189.1	+	28	3380	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1072					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCAGAGGCGTTGCGCAGTG	0.498			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3214-3216)gcG>gcA		RAN binding protein 17		G		1,4405	2.1+/-5.4	0,1,2202	129.0	110.0	116.0		3216	2.0	0.7	5	dbSNP_134	116	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RANBP17	NM_022897.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1072/1089	170725811	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170725811G>A	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3216G>A	5.37:g.170725811G>A						RANBP17_ENST00000521759.1_3'UTR	p.A1072A	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		28	3380	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1072					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.3216G>A	CCDS34287.1																																																																																				0.498	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		9	33	0	0	0	1	0	9	33				
HEG1	57493	broad.mit.edu	37	3	124739857	124739857	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124739857C>T	ENST00000311127.4	-	4	1098	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	344					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTCAAAGATCGCAGCGTTCT	0.527																																						ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(1030-1032)cGa>cAa		heart development protein with EGF-like domains 1							86.0	88.0	87.0					3																	124739857		2035	4198	6233	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124739857C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1031G>A	3.37:g.124739857C>T	ENSP00000311502:p.Arg344Gln						p.R344Q	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			4	1098	-			344					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.1031G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074672	0.08485	.	.	ENSG00000173706	ENST00000311127	T	0.40476	1.03	5.02	2.95	0.34219	.	.	.	.	.	T	0.15955	0.0384	N	0.02391	-0.57	0.09310	N	1	B;B	0.17667	0.013;0.023	B;B	0.11329	0.006;0.004	T	0.21280	-1.0250	9	0.25106	T	0.35	.	4.0522	0.09800	0.0:0.3139:0.0:0.6861	.	344;344	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	Q	344	ENSP00000311502:R344Q	ENSP00000311502:R344Q	R	-	2	0	HEG1	126222547	0.236000	0.23804	0.016000	0.15963	0.055000	0.15305	0.431000	0.21444	0.556000	0.29098	0.655000	0.94253	CGA		0.527	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		5	30	0	0	0	1	0	5	30				
GYPB	2994	broad.mit.edu	37	4	145038028	145038028	+	Intron	SNP	G	G	A	rs140442202		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:145038028G>A	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000360771.4_Silent_p.Y112Y|GYPA_ENST00000324022.10_Silent_p.Y79Y			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GGCGAATACCGTAAGAAATTA	0.368																																						ENST00000360771.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(334-336)taC>taT		glycophorin A (MNS blood group)		G		1,4405	2.1+/-5.4	0,1,2202	120.0	123.0	122.0		336	-3.0	0.0	4	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	GYPA	NM_002099.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		112/151	145038028	1,13005	2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145038028G>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23723C>T	4.37:g.145038028G>A						GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPA_ENST00000324022.10_Silent_p.Y79Y|GYPB_ENST00000283126.7_Intron	p.Y112Y	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN			5	451	-	all_hematologic(180;0.15)		112					B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Silent	SNP	ENST00000283126.7	37	c.336C>T																																																																																					0.368	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		38	90	0	0	0	1	0	38	90				
FBXW9	84261	broad.mit.edu	37	19	12800212	12800212	+	Nonsense_Mutation	SNP	G	G	A	rs146837377	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12800212G>A	ENST00000380339.3	-	9	1402	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	FBXW9_ENST00000587955.1_Nonsense_Mutation_p.R446*|FBXW9_ENST00000544494.1_Nonsense_Mutation_p.R164*|FBXW9_ENST00000393261.3_Nonsense_Mutation_p.R426*|CTD-2659N19.2_ENST00000585742.1_RNA|CTD-2192J16.26_ENST00000593554.1_lincRNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	456					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCATGCCTTCGGGTGCAAATG	0.622																																						ENST00000380339.3																			0				cervix(1)|lung(4)|ovary(1)|prostate(1)	7						c.(1366-1368)Cga>Tga		F-box and WD repeat domain containing 9		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	91.0	79.0	83.0		1276	4.9	0.9	19	dbSNP_134	83	0,8600		0,0,4300	yes	stop-gained	FBXW9	NM_032301.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		426/459	12800212	2,13004	2203	4300	6503	SO:0001587	stop_gained	84261						protein binding	g.chr19:12800212G>A	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1366C>T	19.37:g.12800212G>A	ENSP00000369696:p.Arg456*					FBXW9_ENST00000587955.1_Nonsense_Mutation_p.R446*|FBXW9_ENST00000544494.1_Nonsense_Mutation_p.R164*|FBXW9_ENST00000393261.3_Nonsense_Mutation_p.R426*	p.R456*			Q5XUX1	FBXW9_HUMAN			9	1402	-			456					B3KVP7|Q9BT89	Nonsense_Mutation	SNP	ENST00000380339.3	37	c.1366C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.526025	0.98339	4.54E-4	0.0	ENSG00000132004	ENST00000544494;ENST00000393261;ENST00000380339	.	.	.	4.93	4.93	0.64822	.	0.094954	0.43747	D	0.000522	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4983	15.037	0.71754	0.0:0.0:1.0:0.0	.	.	.	.	X	164;426;456	.	ENSP00000369696:R456X	R	-	1	2	FBXW9	12661212	0.955000	0.32602	0.923000	0.36655	0.583000	0.36354	3.342000	0.52159	2.282000	0.76494	0.591000	0.81541	CGA		0.622	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		11	28	0	0	0	1	0	11	28				
GPC1	2817	broad.mit.edu	37	2	241402907	241402907	+	Silent	SNP	C	C	T	rs555091554		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241402907C>T	ENST00000264039.2	+	4	1109	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	287					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCGACCTGGACGCCGAGTGGA	0.682																																						ENST00000264039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(859-861)gaC>gaT		glypican 1							56.0	57.0	57.0					2																	241402907		2202	4300	6502	SO:0001819	synonymous_variant	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241402907C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.861C>T	2.37:g.241402907C>T							p.D287D	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	4	1109	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	287					B3KTD1|Q53QM4	Silent	SNP	ENST00000264039.2	37	c.861C>T	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.297|9.297	1.052176|1.052176	0.19827|0.19827	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138;ENST00000455111|ENST00000425056	.|.	.|.	.|.	3.87|3.87	-1.31|-1.31	0.09230|0.09230	.|.	.|.	.|.	.|.	.|.	T|T	0.54919|0.54919	0.1888|0.1888	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48456|0.48456	-0.9034|-0.9034	4|4	.|.	.|.	.|.	-33.4304|-33.4304	9.5148|9.5148	0.39098|0.39098	0.0:0.6259:0.0:0.3741|0.0:0.6259:0.0:0.3741	.|.	.|.	.|.	.|.	C|M	327;32|283	.|.	.|.	R|T	+|+	1|2	0|0	GPC1|GPC1	241051580|241051580	0.010000|0.010000	0.17322|0.17322	0.989000|0.989000	0.46669|0.46669	0.812000|0.812000	0.45895|0.45895	0.187000|0.187000	0.16998|0.16998	-0.426000|-0.426000	0.07360|0.07360	-1.303000|-1.303000	0.01326|0.01326	CGC|ACG		0.682	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		22	55	0	0	0	1	0	22	55				
CCDC130	81576	broad.mit.edu	37	19	13868281	13868281	+	Missense_Mutation	SNP	G	G	A	rs202065091		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13868281G>A	ENST00000586600.1	+	6	693	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	CCDC130_ENST00000221554.8_Missense_Mutation_p.G64S			P13994	CC130_HUMAN	coiled-coil domain containing 130	64					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAACCACATCGGCATGGGTGA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17099	0.001		0.0	False		,,,				2504	0.0					ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(190-192)Ggc>Agc		coiled-coil domain containing 130							139.0	100.0	113.0					19																	13868281		2203	4300	6503	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13868281G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.190G>A	19.37:g.13868281G>A	ENSP00000465776:p.Gly64Ser					CCDC130_ENST00000221554.8_Missense_Mutation_p.G64S	p.G64S			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		6	693	+			64					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.190G>A	CCDS12296.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	34	5.392143	0.95988	.	.	ENSG00000104957	ENST00000540216;ENST00000221554	T	0.30981	1.51	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.74023	0.957;0.982	T	0.38628	-0.9652	10	0.15952	T	0.53	-29.379	15.3296	0.74196	0.0:0.0:1.0:0.0	.	64;64	B7Z1U2;P13994	.;CC130_HUMAN	S	64	ENSP00000221554:G64S	ENSP00000221554:G64S	G	+	1	0	CCDC130	13729281	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.638000	0.91019	2.197000	0.70478	0.655000	0.94253	GGC		0.557	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		9	18	0	0	0	1	0	9	18				
NEK9	91754	broad.mit.edu	37	14	75558141	75558141	+	Silent	SNP	G	G	A	rs376937236		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75558141G>A	ENST00000238616.5	-	19	2432	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	758	Interaction with NEK6.|Poly-Gly.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTTCACCACCGCCGCCCCCGC	0.522																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2272-2274)ggC>ggT		NIMA-related kinase 9		G		1,4405	2.1+/-5.4	0,1,2202	42.0	42.0	42.0		2274	-3.6	0.0	14		42	0,8600		0,0,4300	no	coding-synonymous	NEK9	NM_033116.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		758/980	75558141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75558141G>A	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2274C>T	14.37:g.75558141G>A							p.G758G	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	19	2432	-			758			Interaction with NEK6.|Poly-Gly.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	ENST00000238616.5	37	c.2274C>T	CCDS9839.1																																																																																				0.522	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		15	30	0	0	0	1	0	15	30				
BCL3	602	broad.mit.edu	37	19	45260309	45260309	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45260309G>A	ENST00000164227.5	+	4	799	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	185					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCACATTACCGTCTGTGGTCC	0.667			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(553-555)ccG>ccA		B-cell CLL/lymphoma 3							31.0	20.0	24.0					19																	45260309		2180	4243	6423	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45260309G>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.555G>A	19.37:g.45260309G>A							p.P185P	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			4	799	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	185						Silent	SNP	ENST00000164227.5	37	c.555G>A	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	G	9.826	1.187221	0.21870	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.82	-9.64	0.00541	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.47086	-0.9144	4	.	.	.	-11.9443	3.9722	0.09458	0.3678:0.3635:0.1891:0.0797	.	.	.	.	I	69	.	.	V	+	1	0	BCL3	49952149	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-4.209000	0.00273	-2.730000	0.00384	0.313000	0.20887	GTC		0.667	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		5	21	0	0	0	1	0	5	21				
PCDHGC5	56097	broad.mit.edu	37	5	140871074	140871074	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140871074C>T	ENST00000252087.1	+	1	2267	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	756					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGACGGCACGCTCAAGTAC	0.637																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(2266-2268)aCg>aTg									44.0	43.0	44.0					5																	140871074		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140871074C>T	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2267C>T	5.37:g.140871074C>T	ENSP00000252087:p.Thr756Met					PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron	p.T756M	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2267	+			756					Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.2267C>T	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754093	0.69648	.	.	ENSG00000240764	ENST00000252087	T	0.51325	0.71	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000090	T	0.63640	0.2528	L	0.61218	1.895	0.38722	D	0.953466	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.964	T	0.62572	-0.6826	10	0.31617	T	0.26	.	13.3138	0.60394	0.0:0.9178:0.0:0.0822	.	756;756	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	M	756	ENSP00000252087:T756M	ENSP00000252087:T756M	T	+	2	0	PCDHGC5	140851258	0.937000	0.31787	0.989000	0.46669	0.964000	0.63967	2.229000	0.42990	2.637000	0.89404	0.561000	0.74099	ACG		0.637	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		5	76	0	0	0	1	0	5	76				
PML	5371	broad.mit.edu	37	15	74327550	74327550	+	Intron	SNP	C	C	T	rs372539605		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74327550C>T	ENST00000268058.3	+	7	1806				PML_ENST00000563500.1_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569477.1_Silent_p.L596L|PML_ENST00000354026.6_Missense_Mutation_p.S535L|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000268059.6_Missense_Mutation_p.S583L|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCACAGTCCTCGCCAGCCCAC	0.642			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1747-1749)tCg>tTg		promyelocytic leukemia		C	,,LEU/SER,,,,,,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	97.0	113.0	108.0		,,1748,,,,,,1604	-1.6	0.0	15		108	0,8594		0,0,4297	no	intron,intron,missense,utr-3,utr-3,intron,intron,intron,missense	PML	NM_002675.3,NM_033238.2,NM_033239.2,NM_033240.2,NM_033244.3,NM_033246.2,NM_033247.2,NM_033249.2,NM_033250.2	,,145,,,,,,145	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,,,	,,583/830,,,,,,535/782	74327550	1,12989	2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74327550C>T	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+679C>T	15.37:g.74327550C>T						PML_ENST00000354026.6_Missense_Mutation_p.S535L|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000569477.1_Silent_p.L596L|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron	p.S583L	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	1844	+			583					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.1748C>T	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643160	0.47153	2.27E-4	0.0	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	2.77	-1.57	0.08506	.	.	.	.	.	T	0.14527	0.0351	N	0.08118	0	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.14578	0.011;0.011	T	0.21415	-1.0246	8	0.87932	D	0	.	0.3797	0.00393	0.1959:0.3195:0.2103:0.2744	.	535;583	P29590-13;P29590-8	.;.	L	583;535	.	ENSP00000268059:S583L	S	+	2	0	PML	72114603	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.218000	0.09240	-0.366000	0.08064	-0.391000	0.06502	TCG		0.642	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		83	213	0	0	0	1	0	83	213				
AGAP3	116988	broad.mit.edu	37	7	150839547	150839547	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839547G>A	ENST00000463381.1	+	14	1602	c.1106G>A	c.(1105-1107)tGc>tAc	p.C369Y	AGAP3_ENST00000397238.2_Missense_Mutation_p.C700Y	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	664	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGCATTGAGTGCTCAGGCATC	0.627																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2098-2100)tGc>tAc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							43.0	50.0	48.0					7																	150839547		2153	4274	6427	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839547G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1106G>A	7.37:g.150839547G>A	ENSP00000418016:p.Cys369Tyr					AGAP3_ENST00000463381.1_Missense_Mutation_p.C369Y	p.C700Y	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			16	2099	+			664			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2099G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.495896|4.495896	0.85069|0.85069	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|D;D	.|0.96011	.|-3.88;-3.88	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.049989	.|0.85682	.|D	.|0.000000	D|D	0.99055|0.99055	0.9676|0.9676	H|H	0.99919|0.99919	4.95|4.95	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.997	.|D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.996	D|D	0.98802|0.98802	1.0740|1.0740	5|10	.|0.87932	.|D	.|0	.|.	17.6819|17.6819	0.88246|0.88246	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|664;199;700;369	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	T|Y	193|369;199;700;664	.|ENSP00000418016:C369Y;ENSP00000380413:C700Y	.|ENSP00000334157:C664Y	A|C	+|+	1|2	0|0	AGAP3|AGAP3	150470480|150470480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.728000|9.728000	0.98792|0.98792	2.403000|2.403000	0.81681|0.81681	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		20	37	0	0	0	1	0	20	37				
BZRAP1	9256	broad.mit.edu	37	17	56385933	56385933	+	Missense_Mutation	SNP	G	G	A	rs143530655		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56385933G>A	ENST00000343736.4	-	22	4863	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1567V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1507V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1567						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGCCCGTCGCACTGCGGCC	0.711																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4699-4701)gCg>gTg		benzodiazapine receptor (peripheral) associated protein 1		G	VAL/ALA,VAL/ALA	0,4404		0,0,2202	41.0	44.0	43.0		4700,4520	4.2	1.0	17	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	64,64	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1567/1858,1507/1798	56385933	1,13001	2202	4299	6501	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56385933G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4700C>T	17.37:g.56385933G>A	ENSP00000345824:p.Ala1567Val					BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1567V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1507V	p.A1567V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	5570	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1567					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4700C>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150141	0.37923	0.0	1.16E-4	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04360	3.65;3.64;3.65	5.39	4.22	0.49857	.	1.110170	0.06600	N	0.753584	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	P;B;B	0.36768	0.569;0.021;0.021	B;B;B	0.25140	0.058;0.009;0.004	T	0.22208	-1.0223	10	0.17369	T	0.5	.	8.5365	0.33366	0.1551:0.0:0.8449:0.0	.	1567;1507;1567	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	V	1567;1567;1507	ENSP00000347929:A1567V;ENSP00000345824:A1567V;ENSP00000268893:A1507V	ENSP00000268893:A1507V	A	-	2	0	BZRAP1	53740932	0.000000	0.05858	0.996000	0.52242	0.948000	0.59901	-0.201000	0.09464	2.544000	0.85801	0.557000	0.71058	GCG		0.711	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		36	49	0	0	0	1	0	36	49				
JPH2	57158	broad.mit.edu	37	20	42788369	42788369	+	Missense_Mutation	SNP	C	C	T	rs200674068		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:42788369C>T	ENST00000372980.3	-	2	1930	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	353					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGCATGCGGCGCTTGGT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		12763	0.001		0.0	False		,,,				2504	0.0					ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1057-1059)cGc>cAc		junctophilin 2							55.0	45.0	49.0					20																	42788369		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788369C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1058G>A	20.37:g.42788369C>T	ENSP00000362071:p.Arg353His						p.R353H	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1930	-		Myeloproliferative disorder(115;0.0122)	353					E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1058G>A	CCDS13325.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	14.20	2.465766	0.43839	.	.	ENSG00000149596	ENST00000372980	T	0.60920	0.15	3.12	3.12	0.35913	.	0.118458	0.53938	U	0.000049	T	0.48978	0.1530	L	0.49350	1.555	0.80722	D	1	B	0.20671	0.047	B	0.12837	0.008	T	0.53085	-0.8488	10	0.56958	D	0.05	.	10.3856	0.44138	0.0:0.8966:0.0:0.1034	.	353	Q9BR39	JPH2_HUMAN	H	353	ENSP00000362071:R353H	ENSP00000362071:R353H	R	-	2	0	JPH2	42221783	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.446000	0.66600	1.550000	0.49438	0.306000	0.20318	CGC		0.657	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			4	39	0	0	0	1	0	4	39				
GPR68	8111	broad.mit.edu	37	14	91700524	91700524	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91700524C>T	ENST00000531499.2	-	2	1210	c.871G>A	c.(871-873)Gag>Aag	p.E291K	GPR68_ENST00000238699.3_Missense_Mutation_p.E301K|GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.E291K			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	291					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGTGGTCTCGCTGACGAAG	0.692																																						ENST00000531499.2																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(871-873)Gag>Aag		G protein-coupled receptor 68							14.0	17.0	16.0					14																	91700524		2167	4245	6412	SO:0001583	missense	0				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:91700524C>T	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.871G>A	14.37:g.91700524C>T	ENSP00000434045:p.Glu291Lys					GPR68_ENST00000535815.1_Missense_Mutation_p.E291K|GPR68_ENST00000238699.3_Missense_Mutation_p.E301K	p.E291K			Q15743	OGR1_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	1210	-		all_cancers(154;0.0555)	291					Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	ENST00000531499.2	37	c.871G>A	CCDS9894.2	.	.	.	.	.	.	.	.	.	.	C	34	5.309801	0.95629	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.989;0.993	T	0.39981	-0.9587	10	0.49607	T	0.09	.	18.8661	0.92293	0.0:1.0:0.0:0.0	.	291;291	Q6NWR5;Q15743	.;OGR1_HUMAN	K	291;301;291;291	ENSP00000434045:E291K;ENSP00000238699:E301K;ENSP00000440797:E291K;ENSP00000432740:E291K	ENSP00000238699:E301K	E	-	1	0	GPR68	90770277	1.000000	0.71417	0.989000	0.46669	0.921000	0.55340	7.813000	0.86123	2.457000	0.83068	0.555000	0.69702	GAG		0.692	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2			4	9	0	0	0	1	0	4	9				
CLVS2	134829	broad.mit.edu	37	6	123319048	123319048	+	Silent	SNP	G	G	A	rs560066128	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:123319048G>A	ENST00000275162.5	+	2	1461	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	42					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCACCAGGCCGGACATTGGCT	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18265	0.0		0.0	False		,,,				2504	0.0					ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(124-126)ccG>ccA		clavesin 2							183.0	147.0	159.0					6																	123319048		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319048G>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.126G>A	6.37:g.123319048G>A						CLVS2_ENST00000368438.1_Intron	p.P42P	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1461	+			42					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.126G>A	CCDS34525.1																																																																																				0.567	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		30	77	0	0	0	1	0	30	77				
HIPK2	28996	broad.mit.edu	37	7	139285281	139285281	+	Missense_Mutation	SNP	C	C	T	rs374685190		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139285281C>T	ENST00000406875.3	-	11	2411	c.2317G>A	c.(2317-2319)Ggt>Agt	p.G773S	HIPK2_ENST00000428878.2_Missense_Mutation_p.G746S|HIPK2_ENST00000342645.6_Missense_Mutation_p.G773S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	773	Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTCACATGACCGGTCAATAGT	0.552																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2317-2319)Ggt>Agt		homeodomain interacting protein kinase 2		C	SER/GLY,SER/GLY	1,4273		0,1,2136	109.0	114.0	112.0		1186,1267	4.8	1.0	7		112	0,8482		0,0,4241	no	missense,missense	HIPK2	NM_001113239.2,NM_022740.4	56,56	0,1,6377	TT,TC,CC		0.0,0.0234,0.0078	benign,benign	396/822,423/849	139285281	1,12755	2137	4241	6378	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285281C>T	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2317G>A	7.37:g.139285281C>T	ENSP00000385571:p.Gly773Ser					HIPK2_ENST00000342645.6_Missense_Mutation_p.G773S|HIPK2_ENST00000428878.2_Missense_Mutation_p.G746S	p.G773S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2411	-	Melanoma(164;0.205)		773			Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2317G>A		.	.	.	.	.	.	.	.	.	.	C	14.56	2.572097	0.45798	2.34E-4	0.0	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.21932	1.98;1.98;1.98	4.84	4.84	0.62591	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.41129	D	0.985878	B;B	0.13594	0.002;0.008	B;B	0.15052	0.003;0.012	T	0.11421	-1.0588	8	0.20519	T	0.43	.	9.5373	0.39231	0.0:0.8727:0.0:0.1273	.	773;746	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	S	773;746;773	ENSP00000385571:G773S;ENSP00000413724:G746S;ENSP00000343108:G773S	ENSP00000343108:G773S	G	-	1	0	HIPK2	138935821	0.967000	0.33354	0.996000	0.52242	0.985000	0.73830	2.163000	0.42377	2.675000	0.91044	0.650000	0.86243	GGT		0.552	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		7	99	0	0	0	1	0	7	99				
TNFRSF10B	8795	broad.mit.edu	37	8	22884792	22884792	+	Nonsense_Mutation	SNP	G	G	A	rs138183043		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22884792G>A	ENST00000276431.4	-	7	1074	c.790C>T	c.(790-792)Cga>Tga	p.R264*	TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.R235*|TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.R84*|TNFRSF10B_ENST00000519910.1_5'Flank	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	264					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GCCCCAGGTCGTTGTGAGCTC	0.567																																					GBM(94;1064 1342 1839 21060 42553)	ENST00000276431.4																			0				NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15						c.(790-792)Cga>Tga		tumor necrosis factor receptor superfamily, member 10b		G	stop/ARG,stop/ARG	0,4406		0,0,2203	68.0	66.0	67.0		790,703	-0.2	0.0	8	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	TNFRSF10B	NM_003842.4,NM_147187.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	264/441,235/412	22884792	1,13005	2203	4300	6503	SO:0001587	stop_gained	8795				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding	g.chr8:22884792G>A	AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.790C>T	8.37:g.22884792G>A	ENSP00000276431:p.Arg264*					TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.R84*|TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.R235*	p.R264*	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)	7	1074	-		Prostate(55;0.0421)|Breast(100;0.067)	264					O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Nonsense_Mutation	SNP	ENST00000276431.4	37	c.790C>T	CCDS6035.1	.	.	.	.	.	.	.	.	.	.	g	16.59	3.166475	0.57476	0.0	1.16E-4	ENSG00000120889	ENST00000276431;ENST00000347739;ENST00000542226	.	.	.	1.77	-0.235	0.13071	.	9.625390	0.01527	U	0.018637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.0633	0.06206	0.0:0.5031:0.2997:0.1973	.	.	.	.	X	264;235;84	.	ENSP00000276431:R264X	R	-	1	2	TNFRSF10B	22940737	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.181000	0.09740	-0.081000	0.12662	-0.226000	0.12346	CGA		0.567	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215099.2	NM_147187		7	70	0	0	0	1	0	7	70				
PPAP2B	8613	broad.mit.edu	37	1	56977736	56977736	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:56977736G>A	ENST00000371250.3	-	5	1273	c.722C>T	c.(721-723)aCg>aTg	p.T241M	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	241					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGACAGTCCCGTGTAGAAGGC	0.577																																						ENST00000371250.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(721-723)aCg>aTg		phosphatidic acid phosphatase type 2B							88.0	82.0	84.0					1																	56977736		2203	4300	6503	SO:0001583	missense	8613				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	g.chr1:56977736G>A	AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.722C>T	1.37:g.56977736G>A	ENSP00000360296:p.Thr241Met					PPAP2B_ENST00000459962.1_5'UTR	p.T241M	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN			5	1273	-			241					B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	c.722C>T	CCDS604.1	.	.	.	.	.	.	.	.	.	.	G	32	5.118311	0.94385	.	.	ENSG00000162407	ENST00000371250	T	0.73789	-0.78	6.04	6.04	0.98038	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.094876	0.64402	D	0.000001	D	0.84229	0.5426	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84162	0.0429	10	0.72032	D	0.01	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	241	O14495	LPP3_HUMAN	M	241	ENSP00000360296:T241M	ENSP00000360296:T241M	T	-	2	0	PPAP2B	56750324	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.873000	0.98535	0.563000	0.77884	ACG		0.577	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713		25	69	0	0	0	1	0	25	69				
OR12D2	26529	broad.mit.edu	37	6	29364665	29364665	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:29364665C>A	ENST00000383555.2	+	1	250	c.189C>A	c.(187-189)aaC>aaA	p.N63K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCTGGGAAACCTGTCCTACC	0.438																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(187-189)aaC>aaA		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							111.0	112.0	112.0					6																	29364665		1509	2708	4217	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364665C>A		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.189C>A	6.37:g.29364665C>A	ENSP00000373047:p.Asn63Lys					OR5V1_ENST00000377154.1_Intron	p.N63K	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	250	+			63					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.189C>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	7.158	0.585211	0.13749	.	.	ENSG00000168787	ENST00000383555	T	0.12879	2.64	4.07	-0.567	0.11763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.08891	0.0220	M	0.92122	3.275	0.30237	N	0.795386	B	0.34147	0.438	B	0.33339	0.162	T	0.03000	-1.1084	10	0.72032	D	0.01	.	4.9827	0.14175	0.1374:0.5763:0.0:0.2863	.	63	P58182	O12D2_HUMAN	K	63	ENSP00000373047:N63K	ENSP00000373047:N63K	N	+	3	2	OR12D2	29472644	0.000000	0.05858	0.051000	0.19133	0.004000	0.04260	-0.423000	0.07034	-0.395000	0.07715	-0.474000	0.04947	AAC		0.438	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			26	66	1	0	1.85244e-09	1	1.91803e-09	26	66				
CD160	11126	broad.mit.edu	37	1	145699022	145699022	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:145699022T>C	ENST00000369288.2	-	5	686	c.469A>G	c.(469-471)Act>Gct	p.T157A	CD160_ENST00000401557.3_Missense_Mutation_p.T157A|CD160_ENST00000235933.6_Missense_Mutation_p.T157A|CD160_ENST00000369290.1_Missense_Mutation_p.T48A	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	157					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAACTGAGAGTGCCTTCATTA	0.488																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369290.1																			0				endometrium(3)|large_intestine(2)|lung(2)	7						c.(142-144)Act>Gct		CD160 molecule							195.0	150.0	165.0					1																	145699022		2203	4300	6503	SO:0001583	missense	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145699022T>C	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.469A>G	1.37:g.145699022T>C	ENSP00000358294:p.Thr157Ala					CD160_ENST00000401557.3_Missense_Mutation_p.T157A|CD160_ENST00000369288.2_Missense_Mutation_p.T157A|CD160_ENST00000235933.6_Missense_Mutation_p.T157A	p.T48A			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		3	299	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		157			Ig-like V-type.			Missense_Mutation	SNP	ENST00000369288.2	37	c.142A>G	CCDS923.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276003	0.40294	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.43294	0.95;0.95;0.95	4.6	-9.14	0.00701	.	1.883810	0.03072	N	0.157333	T	0.07503	0.0189	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.001	T	0.10474	-1.0628	10	0.45353	T	0.12	1.6287	2.1304	0.03749	0.2226:0.1346:0.1113:0.5315	.	48;157	Q5T2V6;O95971	.;BY55_HUMAN	A	157;157;48;157	ENSP00000235933:T157A;ENSP00000358294:T157A;ENSP00000385199:T157A	ENSP00000235933:T157A	T	-	1	0	CD160	144410379	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-2.387000	0.01060	-1.438000	0.01965	0.533000	0.62120	ACT		0.488	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		5	70	0	0	0	1	0	5	70				
PPP6R2	9701	broad.mit.edu	37	22	50873400	50873400	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50873400C>T	ENST00000216061.5	+	14	1776	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	PPP6R2_ENST00000395741.3_Missense_Mutation_p.A470V|PPP6R2_ENST00000359139.3_Missense_Mutation_p.A469V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A469V			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	469						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TTCAGGGCAGCGGGTGGCATG	0.667																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(1405-1407)gCg>gTg		protein phosphatase 6, regulatory subunit 2							50.0	42.0	45.0					22																	50873400		2202	4300	6502	SO:0001583	missense	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50873400C>T	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1406C>T	22.37:g.50873400C>T	ENSP00000216061:p.Ala469Val					PPP6R2_ENST00000395741.3_Missense_Mutation_p.A470V|PPP6R2_ENST00000395744.3_Missense_Mutation_p.A469V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.A469V	p.A469V	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			13	1800	+			469					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	ENST00000216061.5	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	C	19.15	3.772467	0.69992	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.35421	1.33;1.33;1.33;1.31	4.59	2.08	0.27032	.	0.167993	0.50627	D	0.000106	T	0.50973	0.1647	M	0.62088	1.915	0.28719	N	0.903111	D;D;D;P;D;P	0.76494	0.999;0.983;0.995;0.861;0.983;0.861	D;P;P;P;P;P	0.69479	0.964;0.732;0.772;0.448;0.662;0.448	T	0.43829	-0.9367	10	0.62326	D	0.03	-16.7288	9.8142	0.40842	0.5551:0.4449:0.0:0.0	.	28;469;469;470;469;469	F2Z3M7;O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;.;PP6R2_HUMAN;.;.;.	V	469;470;469;469	ENSP00000352051:A469V;ENSP00000379090:A470V;ENSP00000379093:A469V;ENSP00000216061:A469V	ENSP00000216061:A469V	A	+	2	0	PPP6R2	49220266	0.999000	0.42202	0.511000	0.27724	0.689000	0.40095	4.141000	0.58038	1.029000	0.39812	0.563000	0.77884	GCG		0.667	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		9	30	0	0	0	1	0	9	30				
TRPM6	140803	broad.mit.edu	37	9	77442715	77442715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:77442715A>G	ENST00000360774.1	-	7	1057	c.820T>C	c.(820-822)Tct>Cct	p.S274P	TRPM6_ENST00000361255.3_Missense_Mutation_p.S269P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269P|TRPM6_ENST00000451710.3_Missense_Mutation_p.S274P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S274P|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274P|TRPM6_ENST00000483186.1_5'UTR	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	274					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTGCAGAGAGAGGTACTTC	0.512																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(820-822)Tct>Cct		transient receptor potential cation channel, subfamily M, member 6							131.0	120.0	124.0					9																	77442715		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77442715A>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.820T>C	9.37:g.77442715A>G	ENSP00000354006:p.Ser274Pro					TRPM6_ENST00000376864.4_Missense_Mutation_p.S274P|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S269P|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274P|TRPM6_ENST00000360774.1_Missense_Mutation_p.S274P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274P	p.S274P			Q9BX84	TRPM6_HUMAN			7	1057	-			274					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.820T>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615728	0.66672	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864;ENST00000359047	T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;3.01	5.19	4.01	0.46588	.	0.266592	0.44688	D	0.000422	T	0.81113	0.4755	M	0.90082	3.085	0.44061	D	0.996806	P;D;D;D;D;D	0.89917	0.581;0.958;0.958;0.999;0.997;1.0	B;P;P;D;D;D	0.74348	0.062;0.663;0.663;0.974;0.947;0.983	D	0.83892	0.0285	10	0.87932	D	0	.	12.1157	0.53863	0.8562:0.1438:0.0:0.0	.	274;274;274;274;274;269	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q96LV9;Q9BX84;Q9BX84-3	.;.;.;.;TRPM6_HUMAN;.	P	274;274;274;274;269;269;273;274;274	ENSP00000354006:S274P;ENSP00000407341:S274P;ENSP00000366068:S274P;ENSP00000366067:S274P;ENSP00000396672:S269P;ENSP00000354962:S269P;ENSP00000366060:S274P;ENSP00000351942:S274P	ENSP00000351942:S274P	S	-	1	0	TRPM6	76632535	0.077000	0.21312	0.919000	0.36401	0.975000	0.68041	0.832000	0.27490	0.868000	0.35678	0.482000	0.46254	TCT		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		21	67	0	0	0	1	0	21	67				
SULT1E1	6783	broad.mit.edu	37	4	70713451	70713451	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70713451G>A	ENST00000226444.3	-	6	668	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AATAGTACACGTGGACTCTTT	0.358																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(556-558)Cgt>Tgt		sulfotransferase family 1E, estrogen-preferring, member 1							100.0	100.0	100.0					4																	70713451		2203	4299	6502	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70713451G>A	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.556C>T	4.37:g.70713451G>A	ENSP00000226444:p.Arg186Cys						p.R186C	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			6	668	-			186					Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.556C>T	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	G	3.151	-0.174128	0.06421	.	.	ENSG00000109193	ENST00000226444	T	0.01933	4.55	4.21	2.36	0.29203	Sulfotransferase domain (1);	1.499550	0.03615	N	0.235386	T	0.06690	0.0171	M	0.82923	2.615	0.09310	N	0.999999	B	0.19331	0.035	B	0.15052	0.012	T	0.47355	-0.9124	10	0.59425	D	0.04	.	10.7734	0.46336	0.0:0.0:0.6177:0.3823	.	186	P49888	ST1E1_HUMAN	C	186	ENSP00000226444:R186C	ENSP00000226444:R186C	R	-	1	0	SULT1E1	70748040	0.003000	0.15002	0.028000	0.17463	0.004000	0.04260	1.268000	0.33062	0.641000	0.30601	0.650000	0.86243	CGT		0.358	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		16	52	0	0	0	1	0	16	52				
KIR3DL1	3811	broad.mit.edu	37	19	55284917	55284917	+	Intron	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55284917A>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.D68V|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D68V|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATGTTTAACGACACTTTGCGC	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(202-204)gAc>gTc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							100.0	88.0	92.0					19																	55284917		2174	4192	6366	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284917A>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44072A>T	19.37:g.55284917A>T						CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D68V|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	p.D68V	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	243	+			68			Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.203A>T		.	.	.	.	.	.	.	.	.	.	A	6.044	0.376454	0.11466	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.19938	2.11;2.11	1.24	-1.83	0.07833	.	.	.	.	.	T	0.18299	0.0439	M	0.69185	2.1	0.09310	N	1	P;B	0.38922	0.651;0.106	B;B	0.37091	0.241;0.053	T	0.16867	-1.0388	9	0.87932	D	0	.	2.2416	0.04021	0.4528:0.3145:0.2327:0.0	.	68;68	Q6IST4;Q6H2H3	.;.	V	68	ENSP00000336769:D68V;ENSP00000291633:D68V	ENSP00000291633:D68V	D	+	2	0	KIR2DL1	59976729	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.105000	0.15333	-0.584000	0.05913	0.327000	0.21459	GAC		0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		5	127	0	0	0	1	0	5	127				
ALMS1	7840	broad.mit.edu	37	2	73677817	73677817	+	Missense_Mutation	SNP	C	C	T	rs377354387		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73677817C>T	ENST00000264448.6	+	8	4271	c.4160C>T	c.(4159-4161)cCg>cTg	p.P1387L	ALMS1_ENST00000377715.1_Missense_Mutation_p.P1387L|ALMS1_ENST00000409009.1_Missense_Mutation_p.P1345L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1387	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGAGAAGCCGAGTATTTTC	0.473																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(4159-4161)cCg>cTg		Alstrom syndrome 1		C	LEU/PRO	0,3726		0,0,1863	85.0	88.0	87.0		4160	0.8	0.0	2		87	1,8201		0,1,4100	no	missense	ALMS1	NM_015120.4	98	0,1,5963	TT,TC,CC		0.0122,0.0,0.0084	benign	1387/4168	73677817	1,11927	1863	4101	5964	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677817C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4160C>T	2.37:g.73677817C>T	ENSP00000264448:p.Pro1387Leu					ALMS1_ENST00000409009.1_Missense_Mutation_p.P1345L|ALMS1_ENST00000377715.1_Missense_Mutation_p.P1387L	p.P1387L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	4271	+			1387			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.4160C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454697	0.26161	0.0	1.22E-4	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.26810	2.6;2.59;1.71	3.65	0.766	0.18476	.	.	.	.	.	T	0.18467	0.0443	L	0.57536	1.79	0.09310	N	1	P;P;P	0.42456	0.78;0.78;0.78	B;B;B	0.31547	0.132;0.132;0.132	T	0.16571	-1.0398	9	0.66056	D	0.02	.	4.6111	0.12402	0.363:0.528:0.0:0.1089	.	1387;1345;1387	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	1345;1387;1387	ENSP00000386627:P1345L;ENSP00000264448:P1387L;ENSP00000366944:P1387L	ENSP00000264448:P1387L	P	+	2	0	ALMS1	73531325	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.018000	0.12568	0.133000	0.18654	0.436000	0.28706	CCG		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		44	111	0	0	0	1	0	44	111				
AP3D1	8943	broad.mit.edu	37	19	2116221	2116221	+	Silent	SNP	C	C	T	rs373890557		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2116221C>T	ENST00000345016.5	-	18	2289	c.2058G>A	c.(2056-2058)tcG>tcA	p.S686S	AP3D1_ENST00000356926.4_Silent_p.S595S|AP3D1_ENST00000350812.6_Silent_p.S517S|AP3D1_ENST00000355272.6_Silent_p.S686S	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	686					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGATGGCGAGCTCTTGA	0.652																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2056-2058)tcG>tcA		adaptor-related protein complex 3, delta 1 subunit		C	,	1,4197		0,1,2098	99.0	113.0	108.0		1785,2058	-10.6	0.0	19		108	0,8430		0,0,4215	no	coding-synonymous,coding-synonymous	AP3D1	NM_001077523.1,NM_003938.5	,	0,1,6313	TT,TC,CC		0.0,0.0238,0.0079	,	595/1113,686/1154	2116221	1,12627	2099	4215	6314	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2116221C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2058G>A	19.37:g.2116221C>T						AP3D1_ENST00000345016.5_Silent_p.S686S|AP3D1_ENST00000356926.4_Silent_p.S595S|AP3D1_ENST00000350812.6_Silent_p.S517S	p.S686S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2264	-		Hepatocellular(1079;0.137)	686					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.2058G>A	CCDS42459.1																																																																																				0.652	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			8	18	0	0	0	1	0	8	18				
FKBP10	60681	broad.mit.edu	37	17	39973358	39973358	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39973358C>A	ENST00000321562.4	+	2	398	c.294C>A	c.(292-294)ctC>ctA	p.L98L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	98	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGGGGCGCCTCATCACTGGCA	0.627																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(292-294)ctC>ctA		FK506 binding protein 10, 65 kDa							131.0	100.0	111.0					17																	39973358		2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39973358C>A	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.294C>A	17.37:g.39973358C>A							p.L98L	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	2	398	+		Breast(137;0.00122)	98			PPIase FKBP-type 1.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.294C>A	CCDS11409.1																																																																																				0.627	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		4	90	1	0	0.014758	1	0.0149096	4	90				
FZD10	11211	broad.mit.edu	37	12	130648819	130648819	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130648819C>T	ENST00000229030.4	+	1	1816	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R412W			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	444					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGTGCGTATCGGGCTCTTCT	0.592																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1234-1236)Cgg>Tgg		frizzled family receptor 10							172.0	163.0	166.0					12																	130648819		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648819C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1332C>T	12.37:g.130648819C>T						FZD10_ENST00000229030.4_Silent_p.I444I	p.R412W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1816	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		84						Missense_Mutation	SNP	ENST00000229030.4	37	c.1234C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	7.044	0.563182	0.13498	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	2.16	0.27623	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56300	-0.8002	5	0.87932	D	0	.	4.0408	0.09750	0.2968:0.4675:0.0:0.2357	.	.	.	.	W	412	.	ENSP00000438460:R412W	R	+	1	2	FZD10	129214772	0.023000	0.18921	0.997000	0.53966	0.574000	0.36063	-0.754000	0.04787	0.136000	0.18733	0.561000	0.74099	CGG		0.592	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	42	0	0	0	1	0	11	42				
DYNC1I1	1780	broad.mit.edu	37	7	95705442	95705442	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:95705442C>A	ENST00000324972.6	+	15	1827	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P525H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P508H|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P528H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P508H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P528H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	545					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCGTGCATCCTGCGCTTTTT	0.592											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1633-1635)cCt>cAt		dynein, cytoplasmic 1, intermediate chain 1							131.0	113.0	119.0					7																	95705442		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705442C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1634C>A	7.37:g.95705442C>A	ENSP00000320130:p.Pro545His		OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P528H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P508H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P508H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P528H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P525H	p.P545H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1827	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		545					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1634C>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726949	0.89390	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.79845	-1.15;-1.11;-1.31;-1.11;-1.09;-1.15	4.6	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048991	0.85682	D	0.000000	D	0.92554	0.7635	H	0.94385	3.53	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.94554	0.7756	10	0.87932	D	0	-20.0467	17.5841	0.87976	0.0:1.0:0.0:0.0	.	528;525;528;545;508	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	H	528;545;508;525;508;528	ENSP00000392337:P528H;ENSP00000320130:P545H;ENSP00000438377:P508H;ENSP00000398118:P525H;ENSP00000352348:P508H;ENSP00000412444:P528H	ENSP00000320130:P545H	P	+	2	0	DYNC1I1	95543378	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.588000	0.82629	2.565000	0.86533	0.313000	0.20887	CCT		0.592	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		37	72	1	0	4.62619e-21	1	4.85503e-21	37	72				
SMTN	6525	broad.mit.edu	37	22	31492818	31492818	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31492818G>A	ENST00000347557.2	+	14	2179	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	SMTN_ENST00000333137.7_Missense_Mutation_p.S654N|SMTN_ENST00000358743.1_Missense_Mutation_p.S654N|SMTN_ENST00000404574.1_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	654					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACGAGGCACAGCCAGCGGGCA	0.692																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(1960-1962)aGc>aAc		smoothelin							57.0	60.0	59.0					22																	31492818		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31492818G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1961G>A	22.37:g.31492818G>A	ENSP00000328635:p.Ser654Asn					SMTN_ENST00000358743.1_Missense_Mutation_p.S654N|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000347557.2_Missense_Mutation_p.S654N	p.S654N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			14	2179	+			654					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.1961G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100426	0.56183	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.69175	-0.03;-0.38;-0.38	4.51	3.47	0.39725	.	0.355206	0.20821	N	0.085078	T	0.63838	0.2545	L	0.54323	1.7	0.80722	D	1	P;P;P;B;P;P	0.45348	0.565;0.745;0.856;0.282;0.605;0.604	B;B;B;B;B;B	0.42112	0.159;0.209;0.357;0.075;0.144;0.376	T	0.68435	-0.5409	10	0.72032	D	0.01	-17.7556	13.9991	0.64421	0.0:0.2892:0.7108:0.0	.	710;739;677;654;654;654	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	N	654;654;654;652;677	ENSP00000351593:S654N;ENSP00000328635:S654N;ENSP00000329532:S654N	ENSP00000329393:S652N	S	+	2	0	SMTN	29822818	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.210000	0.51129	0.999000	0.39023	0.456000	0.33151	AGC		0.692	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		5	125	0	0	0	1	0	5	125				
TPPP	11076	broad.mit.edu	37	5	666151	666151	+	Missense_Mutation	SNP	G	G	T	rs370610823		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:666151G>T	ENST00000360578.5	-	3	520	c.399C>A	c.(397-399)agC>agA	p.S133R	AC026740.1_ENST00000594226.1_5'Flank|CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	133					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGCCTCCTCGCTGCTCTTGT	0.632																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(397-399)agC>agA		tubulin polymerization promoting protein							102.0	91.0	95.0					5																	666151		2203	4300	6503	SO:0001583	missense	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:666151G>T	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.399C>A	5.37:g.666151G>T	ENSP00000353785:p.Ser133Arg					CEP72_ENST00000514507.1_3'UTR	p.S133R	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	3	520	-		Ovarian(839;0.0563)	133						Missense_Mutation	SNP	ENST00000360578.5	37	c.399C>A	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	1.554	-0.538347	0.04082	.	.	ENSG00000171368	ENST00000360578	T	0.41400	1.0	4.39	-0.926	0.10455	EF-hand-like domain (1);	1.135170	0.06311	N	0.702758	T	0.18215	0.0437	N	0.08118	0	0.24354	N	0.99491	B	0.23891	0.093	B	0.24394	0.053	T	0.16335	-1.0406	10	0.15499	T	0.54	-8.327	1.3805	0.02229	0.2983:0.2393:0.3402:0.1223	.	133	O94811	TPPP_HUMAN	R	133	ENSP00000353785:S133R	ENSP00000353785:S133R	S	-	3	2	TPPP	719151	0.000000	0.05858	0.019000	0.16419	0.017000	0.09413	-3.055000	0.00626	-0.483000	0.06772	-0.266000	0.10368	AGC		0.632	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		5	112	1	0	0.184627	1	0.184969	5	112				
PCDHA11	56138	broad.mit.edu	37	5	140249999	140249999	+	Silent	SNP	G	G	A	rs374225281		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140249999G>A	ENST00000398640.2	+	1	1311	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGGGTAT	0.637																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1309-1311)acG>acA				G	,,,,,,,,,,,,,,	0,4406		0,0,2203	128.0	137.0	134.0		,,1311,,,,,,,,,,,,1311	-11.3	0.0	5		134	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031861.1	,,,,,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,	,,437/950,,,,,,,,,,,,437/811	140249999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140249999G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1311G>A	5.37:g.140249999G>A						PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.T437T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1311	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1311G>A	CCDS47284.1																																																																																				0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		67	241	0	0	0	1	0	67	241				
UHRF1	29128	broad.mit.edu	37	19	4929359	4929359	+	RNA	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4929359C>T	ENST00000592666.1	+	0	855							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTCCGACACCGACTCCGGCT	0.657																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1							39.0	45.0	43.0					19																	4929359		2189	4286	6475			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4929359C>T	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4929359C>T										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	855	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37																																																																																						0.657	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		15	36	0	0	0	1	0	15	36				
CAP2	10486	broad.mit.edu	37	6	17507500	17507500	+	Missense_Mutation	SNP	C	C	T	rs200559179		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507500C>T	ENST00000229922.2	+	5	933	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.S108L|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.S134L	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	134					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AATCATCTTTCGGCCGTCAGC	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19670	0.0		0.001	False		,,,				2504	0.0					ENST00000229922.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(400-402)tCg>tTg		CAP, adenylate cyclase-associated protein, 2 (yeast)							123.0	99.0	107.0					6																	17507500		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17507500C>T	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.401C>T	6.37:g.17507500C>T	ENSP00000229922:p.Ser134Leu					CAP2_ENST00000465994.1_Missense_Mutation_p.S134L|CAP2_ENST00000378990.2_Missense_Mutation_p.S108L|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	p.S134L	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		5	933	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	134					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.401C>T	CCDS4539.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.5	4.155415	0.78114	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.23950	1.88;1.88;1.88	5.38	5.38	0.77491	Adenylate cyclase-associated CAP, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	M	0.92412	3.305	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.954;0.999	T	0.68949	-0.5274	10	0.87932	D	0	-10.6699	18.7182	0.91684	0.0:1.0:0.0:0.0	.	134;108;134	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	L	134;134;108;134	ENSP00000229922:S134L;ENSP00000368275:S108L;ENSP00000418604:S134L	ENSP00000229922:S134L	S	+	2	0	CAP2	17615479	1.000000	0.71417	0.843000	0.33291	0.995000	0.86356	7.711000	0.84669	2.515000	0.84797	0.557000	0.71058	TCG		0.478	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			15	65	0	0	0	1	0	15	65				
LRRC8A	56262	broad.mit.edu	37	9	131671592	131671592	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131671592G>A	ENST00000259324.5	+	3	2672	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A717T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A717T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	717					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCATCACGGCCAACCGGGT	0.672																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2149-2151)Gcc>Acc		leucine rich repeat containing 8 family, member A							50.0	53.0	52.0					9																	131671592		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131671592G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2149G>A	9.37:g.131671592G>A	ENSP00000259324:p.Ala717Thr					LRRC8A_ENST00000372600.4_Missense_Mutation_p.A717T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A717T	p.A717T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	2672	+			717					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2149G>A	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980487	0.74474	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.58506	0.33;0.33;0.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	N	0.19112	0.55	0.80722	D	1	P	0.41345	0.746	P	0.45167	0.472	T	0.36040	-0.9764	10	0.13853	T	0.58	.	18.7705	0.91890	0.0:0.0:1.0:0.0	.	717	Q8IWT6	LRC8A_HUMAN	T	717	ENSP00000361682:A717T;ENSP00000361680:A717T;ENSP00000259324:A717T	ENSP00000259324:A717T	A	+	1	0	LRRC8A	130711413	1.000000	0.71417	0.977000	0.42913	0.866000	0.49608	7.848000	0.86902	2.677000	0.91161	0.561000	0.74099	GCC		0.672	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		29	86	0	0	0	1	0	29	86				
RPN1	6184	broad.mit.edu	37	3	128344415	128344415	+	Missense_Mutation	SNP	C	C	T	rs1126829	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:128344415C>T	ENST00000296255.3	-	8	1405	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	RPN1_ENST00000490166.1_5'Flank|RPN1_ENST00000497289.1_Missense_Mutation_p.V281I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	453					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAGATGATAACGGTGAAGAAC	0.517			T	EVI1	AML								C|||	7	0.00139776	0.0	0.0	5008	,	,		18077	0.0		0.007	False		,,,				2504	0.0					ENST00000296255.3				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13						c.(1357-1359)Gtt>Att		ribophorin I		C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	196.0	191.0	193.0		1357	4.8	1.0	3	dbSNP_86	193	14,8586	10.5+/-38.8	0,14,4286	yes	missense	RPN1	NM_002950.3	29	0,16,6487	TT,TC,CC		0.1628,0.0454,0.123	possibly-damaging	453/608	128344415	16,12990	2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128344415C>T		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1357G>A	3.37:g.128344415C>T	ENSP00000296255:p.Val453Ile					RPN1_ENST00000497289.1_Missense_Mutation_p.V281I	p.V453I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	8	1405	-			453					B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.1357G>A	CCDS3051.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	26.1	4.703598	0.88924	4.54E-4	0.001628	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.58969	1.84	0.80722	D	1	P	0.45126	0.851	P	0.48270	0.572	T	0.58929	-0.7549	9	0.38643	T	0.18	-16.9459	14.6516	0.68800	0.0:0.9304:0.0:0.0696	.	453	P04843	RPN1_HUMAN	I	453;281;224;427	.	ENSP00000296255:V453I	V	-	1	0	RPN1	129827105	1.000000	0.71417	0.975000	0.42487	0.972000	0.66771	7.360000	0.79487	1.418000	0.47098	0.591000	0.81541	GTT		0.517	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		52	176	0	0	0	1	0	52	176				
CNBD1	168975	broad.mit.edu	37	8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A	rs376314855		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323																																						ENST00000518476.1																			1	Substitution - Missense(1)	p.V407I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(1219-1221)Gtc>Atc		cyclic nucleotide binding domain containing 1		G	ILE/VAL	1,3681		0,1,1840	101.0	98.0	99.0		1219	2.7	0.4	8		99	2,8166		0,2,4082	no	missense	CNBD1	NM_173538.2	29	0,3,5922	AA,AG,GG		0.0245,0.0272,0.0253	benign	407/437	88365930	3,11847	1841	4084	5925	SO:0001583	missense	168975							g.chr8:88365930G>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1219G>A	8.37:g.88365930G>A	ENSP00000430073:p.Val407Ile						p.V407I	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			10	1270	+			407						Missense_Mutation	SNP	ENST00000518476.1	37	c.1219G>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388099	0.25118	2.72E-4	2.45E-4	ENSG00000176571	ENST00000518476	D	0.92397	-3.03	4.98	2.73	0.32206	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.322185	0.21804	N	0.068869	T	0.75273	0.3827	N	0.11560	0.145	0.09310	N	1	P	0.36647	0.563	B	0.28011	0.085	T	0.69789	-0.5050	10	0.05351	T	0.99	-13.7869	6.2957	0.21085	0.2887:0.0:0.7113:0.0	.	407	Q8NA66	CNBD1_HUMAN	I	407	ENSP00000430073:V407I	ENSP00000430073:V407I	V	+	1	0	CNBD1	88435046	0.171000	0.23029	0.437000	0.26809	0.931000	0.56810	-0.057000	0.11768	0.288000	0.22398	0.555000	0.69702	GTC		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		19	52	0	0	0	1	0	19	52				
LRRC8C	84230	broad.mit.edu	37	1	90180448	90180448	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90180448C>T	ENST00000370454.4	+	3	2574	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	773					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTGGGTGACTGTCGGGCTC	0.413																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(2317-2319)gaC>gaT		leucine rich repeat containing 8 family, member C							81.0	85.0	84.0					1																	90180448		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90180448C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.2319C>T	1.37:g.90180448C>T						RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.D773D	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	2574	+		all_lung(203;0.126)	773					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.2319C>T	CCDS725.1																																																																																				0.413	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		17	61	0	0	0	1	0	17	61				
TMEM120B	144404	broad.mit.edu	37	12	122213655	122213655	+	3'UTR	SNP	G	G	A	rs557051379		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122213655G>A	ENST00000449592.2	+	0	1148				TMEM120B_ENST00000540377.1_Missense_Mutation_p.G53R	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCCTCGGCCCGGACTTCAGAC	0.667											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000540377.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11						c.(157-159)Gga>Aga		transmembrane protein 120B																																				SO:0001624	3_prime_UTR_variant	144404					integral to membrane		g.chr12:122213655G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.*27G>A	12.37:g.122213655G>A			OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1517	TMEM120B_ENST00000449592.2_3'UTR	p.G53R			A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	6	553	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.157G>A	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087737	0.20390	.	.	ENSG00000188735	ENST00000540377	.	.	.	4.72	-7.37	0.01412	.	.	.	.	.	T	0.32585	0.0834	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.49390	-0.8945	5	0.87932	D	0	.	4.4467	0.11600	0.2938:0.1115:0.5001:0.0946	.	.	.	.	R	53	.	ENSP00000446159:G53R	G	+	1	0	TMEM120B	120698038	0.002000	0.14202	0.000000	0.03702	0.043000	0.13939	0.010000	0.13242	-1.074000	0.03132	-1.832000	0.00591	GGA		0.667	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		14	29	0	0	0	1	0	14	29				
ACTL6B	51412	broad.mit.edu	37	7	100243916	100243916	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100243916G>A	ENST00000160382.5	-	13	1262	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	386					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)	p.R386C(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGAACTTGCGCTCCATGGTG	0.607																																						ENST00000160382.5																			1	Substitution - Missense(1)	p.R386C(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(1156-1158)Cgc>Tgc		actin-like 6B							75.0	63.0	67.0					7																	100243916		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100243916G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.1156C>T	7.37:g.100243916G>A	ENSP00000160382:p.Arg386Cys						p.R386C	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			13	1262	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		386					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.1156C>T	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698565	0.68386	.	.	ENSG00000077080	ENST00000160382	D	0.96365	-3.99	5.71	3.73	0.42828	.	0.000000	0.64402	D	0.000002	D	0.98551	0.9516	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98154	1.0443	10	0.87932	D	0	.	12.0302	0.53394	0.0:0.0:0.6983:0.3017	.	386	O94805	ACL6B_HUMAN	C	386	ENSP00000160382:R386C	ENSP00000160382:R386C	R	-	1	0	ACTL6B	100081852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.245000	0.51407	2.710000	0.92621	0.655000	0.94253	CGC		0.607	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		7	34	0	0	0	1	0	7	34				
PHF5A	84844	broad.mit.edu	37	22	41863582	41863582	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41863582C>T	ENST00000216252.3	-	3	184	c.113G>A	c.(112-114)cGt>cAt	p.R38H	PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000216254.4_5'Flank|ACO2_ENST00000396512.3_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	38					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGTGCAGGGACGCACATAGGA	0.502																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(112-114)cGt>cAt		PHD finger protein 5A							111.0	96.0	101.0					22																	41863582		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863582C>T	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.113G>A	22.37:g.41863582C>T	ENSP00000216252:p.Arg38His					PHF5A_ENST00000491254.1_5'UTR	p.R38H	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	184	-			38					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.113G>A	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623528	0.87460	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	M	0.67625	2.065	0.80722	D	1	B	0.14438	0.01	B	0.25987	0.065	T	0.67364	-0.5689	9	0.66056	D	0.02	-21.5356	19.8379	0.96666	0.0:1.0:0.0:0.0	.	38	Q7RTV0	PHF5A_HUMAN	H	38	.	ENSP00000216252:R38H	R	-	2	0	PHF5A	40193528	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.850000	0.69473	2.765000	0.95021	0.655000	0.94253	CGT		0.502	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		21	50	0	0	0	1	0	21	50				
MUSK	4593	broad.mit.edu	37	9	113547964	113547964	+	Missense_Mutation	SNP	G	G	A	rs202126269		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:113547964G>A	ENST00000374448.4	+	13	1878	c.1744G>A	c.(1744-1746)Gga>Aga	p.G582R	MUSK_ENST00000416899.2_Missense_Mutation_p.G574R|MUSK_ENST00000374438.1_Missense_Mutation_p.G98R|MUSK_ENST00000189978.5_Missense_Mutation_p.G582R	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGAGACATCGGAGAGGGAGC	0.428																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1720-1722)Gga>Aga		muscle, skeletal, receptor tyrosine kinase							111.0	105.0	106.0					9																	113547964		1871	4112	5983	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547964G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1744G>A	9.37:g.113547964G>A	ENSP00000363571:p.Gly582Arg					MUSK_ENST00000189978.5_Missense_Mutation_p.G582R|MUSK_ENST00000374438.1_Missense_Mutation_p.G98R|MUSK_ENST00000374448.4_Missense_Mutation_p.G582R	p.G574R			O15146	MUSK_HUMAN			11	1846	+			582					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1720G>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114088	0.94339	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.95001	-0.36;-3.58	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99372	1.0920	10	0.87932	D	0	.	19.1684	0.93567	0.0:0.0:1.0:0.0	.	582	O15146	MUSK_HUMAN	R	588;582;582;496;496;98;580;98	ENSP00000363571:G582R;ENSP00000363561:G98R	ENSP00000189978:G588R	G	+	1	0	MUSK	112587785	1.000000	0.71417	0.943000	0.38184	0.940000	0.58332	9.476000	0.97823	2.777000	0.95525	0.655000	0.94253	GGA		0.428	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	104	0	0	0	1	0	9	104				
MGAT3	4248	broad.mit.edu	37	22	39883622	39883622	+	Silent	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39883622C>A	ENST00000341184.6	+	2	485	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	90					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(268-270)gcC>gcA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							20.0	25.0	23.0					22																	39883622		2191	4280	6471	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883622C>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.270C>A	22.37:g.39883622C>A							p.A90A	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	485	+	Melanoma(58;0.04)		90					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.270C>A	CCDS13994.2																																																																																				0.701	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		5	110	1	0	0.0215528	1	0.0217133	5	110				
FAM90A1	55138	broad.mit.edu	37	12	8375299	8375299	+	Missense_Mutation	SNP	C	C	T	rs562876348		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8375299C>T	ENST00000538603.1	-	7	1072	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E172K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	172							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCAGACATTTCGGTAGCTGAG	0.552																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(514-516)Gaa>Aaa		family with sequence similarity 90, member A1							31.0	44.0	39.0					12																	8375299		2050	3918	5968	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8375299C>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.514G>A	12.37:g.8375299C>T	ENSP00000445418:p.Glu172Lys					FAM90A1_ENST00000307435.6_Missense_Mutation_p.E172K	p.E172K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1072	-			172					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.514G>A	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.535919	0.00143	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.14266	2.52;2.52	0.444	-0.888	0.10583	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38200	-0.9672	8	0.06757	T	0.87	5.0499	.	.	.	.	172	Q86YD7	F90A1_HUMAN	K	172	ENSP00000307798:E172K;ENSP00000445418:E172K	ENSP00000307798:E172K	E	-	1	0	FAM90A1	8266566	0.011000	0.17503	0.000000	0.03702	0.008000	0.06430	-0.787000	0.04618	-3.279000	0.00197	-2.551000	0.00177	GAA		0.552	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		20	58	0	0	0	1	0	20	58				
RPP38	10557	broad.mit.edu	37	10	15145385	15145385	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:15145385G>A	ENST00000378197.4	+	3	586	c.72G>A	c.(70-72)tcG>tcA	p.S24S	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.S24S	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	24				S -> A (in Ref. 1; AA sequence). {ECO:0000305}.	RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TGAAGACGTCGTTGAACAACC	0.512																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(70-72)tcG>tcA		ribonuclease P/MRP 38kDa subunit							73.0	75.0	74.0					10																	15145385		2203	4300	6503	SO:0001819	synonymous_variant	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145385G>A	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.72G>A	10.37:g.15145385G>A						RPP38_ENST00000378202.5_Silent_p.S24S|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	p.S24S	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	586	+			24	S -> A (in Ref. 1; AA sequence).				B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	c.72G>A	CCDS7108.1																																																																																				0.512	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		27	67	0	0	0	1	0	27	67				
ACSM5	54988	broad.mit.edu	37	16	20429586	20429586	+	Missense_Mutation	SNP	G	G	A	rs142598719	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:20429586G>A	ENST00000331849.4	+	3	557	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	ACSM5_ENST00000575584.1_Missense_Mutation_p.R137Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	137					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.R137Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTTGCATGCGGACAGGTCAG	0.567													G|||	2	0.000399361	0.0008	0.0	5008	,	,		12829	0.0		0.0	False		,,,				2504	0.001					ENST00000331849.4																			1	Substitution - Missense(1)	p.R137Q(1)	endometrium(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(409-411)cGg>cAg		acyl-CoA synthetase medium-chain family member 5							45.0	38.0	40.0					16																	20429586		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429586G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.410G>A	16.37:g.20429586G>A	ENSP00000327916:p.Arg137Gln					ACSM5_ENST00000575584.1_Missense_Mutation_p.R137Q	p.R137Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			3	557	+			137					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.410G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.891634	0.91889	.	.	ENSG00000183549	ENST00000331849	T	0.44881	0.91	4.56	4.56	0.56223	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000048	T	0.68054	0.2959	M	0.83312	2.635	0.41501	D	0.988286	D	0.89917	1.0	D	0.97110	1.0	T	0.75036	-0.3459	10	0.87932	D	0	-25.7928	17.2067	0.86920	0.0:0.0:1.0:0.0	.	137	Q6NUN0	ACSM5_HUMAN	Q	137	ENSP00000327916:R137Q	ENSP00000327916:R137Q	R	+	2	0	ACSM5	20337087	1.000000	0.71417	0.997000	0.53966	0.813000	0.45954	7.871000	0.87180	2.369000	0.80426	0.650000	0.86243	CGG		0.567	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		12	18	0	0	0	1	0	12	18				
GLCE	26035	broad.mit.edu	37	15	69561011	69561011	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:69561011C>T	ENST00000261858.2	+	5	1510	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	GLCE_ENST00000559420.2_Missense_Mutation_p.R364C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	428					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGGTGACCCGTAAGTTAGG	0.488																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1282-1284)Cgt>Tgt		glucuronic acid epimerase							76.0	69.0	71.0					15																	69561011		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69561011C>T	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1282C>T	15.37:g.69561011C>T	ENSP00000261858:p.Arg428Cys					GLCE_ENST00000559420.2_Missense_Mutation_p.R364C	p.R428C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1510	+			428					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.1282C>T	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369718	0.61624	.	.	ENSG00000138604	ENST00000261858	T	0.47869	0.83	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74774	-0.3551	10	0.87932	D	0	-13.2633	13.3538	0.60617	0.1584:0.8416:0.0:0.0	.	428	O94923	GLCE_HUMAN	C	428	ENSP00000261858:R428C	ENSP00000261858:R428C	R	+	1	0	GLCE	67348065	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	4.876000	0.63079	2.470000	0.83445	0.557000	0.71058	CGT		0.488	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		6	81	0	0	0	1	0	6	81				
FLRT2	23768	broad.mit.edu	37	14	86088044	86088044	+	Silent	SNP	G	G	A	rs576805931		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:86088044G>A	ENST00000330753.4	+	2	953	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_ENST00000554746.1_Silent_p.P62P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	62	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(184-186)ccG>ccA		fibronectin leucine rich transmembrane protein 2							134.0	121.0	125.0					14																	86088044		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088044G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.186G>A	14.37:g.86088044G>A						FLRT2_ENST00000554746.1_Silent_p.P62P	p.P62P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	953	+			62			LRRNT.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.186G>A	CCDS9877.1																																																																																				0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			47	102	0	0	0	1	0	47	102				
MTMR4	9110	broad.mit.edu	37	17	56572381	56572381	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56572381C>T	ENST00000323456.5	-	16	3246	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.R984Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1041					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGCACCTGTCGACGTAGCTG	0.527																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3121-3123)cGa>cAa		myotubularin related protein 4							173.0	142.0	152.0					17																	56572381		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572381C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3122G>A	17.37:g.56572381C>T	ENSP00000325285:p.Arg1041Gln					MTMR4_ENST00000579925.1_Missense_Mutation_p.R984Q	p.R1041Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3246	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1041					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.3122G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281259	0.59758	.	.	ENSG00000108389	ENST00000323456	D	0.93247	-3.19	5.58	5.58	0.84498	.	0.060043	0.64402	D	0.000004	D	0.88851	0.6549	L	0.42245	1.32	0.31895	N	0.616653	P	0.37525	0.598	B	0.21151	0.033	D	0.89080	0.3475	10	0.34782	T	0.22	.	18.5538	0.91075	0.0:1.0:0.0:0.0	.	1041	Q9NYA4	MTMR4_HUMAN	Q	1041	ENSP00000325285:R1041Q	ENSP00000325285:R1041Q	R	-	2	0	MTMR4	53927380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.627000	0.88993	0.555000	0.69702	CGA		0.527	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		19	36	0	0	0	1	0	19	36				
PCDH7	5099	broad.mit.edu	37	4	30723339	30723339	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:30723339T>A	ENST00000361762.2	+	1	1303	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	PCDH7_ENST00000543491.1_Missense_Mutation_p.C99S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCTGCCCCAGTGTCAGATGAT	0.602																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(295-297)Tgt>Agt		protocadherin 7							82.0	65.0	71.0					4																	30723339		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30723339T>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.295T>A	4.37:g.30723339T>A	ENSP00000355243:p.Cys99Ser					PCDH7_ENST00000543491.1_Missense_Mutation_p.C99S	p.C99S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	1303	+			99			Cadherin 1.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.295T>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429529	0.62844	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.55413	0.52;0.52	4.99	4.99	0.66335	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.80628	0.4659	H	0.96015	3.755	0.46725	D	0.999173	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86194	0.1614	9	0.54805	T	0.06	.	14.5159	0.67818	0.0:0.0:0.0:1.0	.	99;99;99	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	S	99	ENSP00000355243:C99S;ENSP00000441802:C99S	ENSP00000330302:C99S	C	+	1	0	PCDH7	30332437	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.923000	0.70045	2.095000	0.63458	0.374000	0.22700	TGT		0.602	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		14	23	0	0	0	1	0	14	23				
SH3PXD2A	9644	broad.mit.edu	37	10	105362575	105362575	+	Silent	SNP	C	C	T	rs201684455		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:105362575C>T	ENST00000369774.4	-	15	2676	c.2400G>A	c.(2398-2400)tcG>tcA	p.S800S	SH3PXD2A_ENST00000355946.2_Silent_p.S772S|SH3PXD2A_ENST00000538130.1_Silent_p.S635S|SH3PXD2A_ENST00000540321.1_Silent_p.S667S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	800					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGCAGCTCCGAATCCTCAC	0.637																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2398-2400)tcG>tcA		SH3 and PX domains 2A							142.0	147.0	146.0					10																	105362575		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362575C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2400G>A	10.37:g.105362575C>T						SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.S667S|SH3PXD2A_ENST00000538130.1_Silent_p.S635S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S772S	p.S800S			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2676	-		Colorectal(252;0.0815)|Breast(234;0.131)	800					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.2400G>A		.	.	.	.	.	.	.	.	.	.	C	1.409	-0.575900	0.03882	.	.	ENSG00000107957	ENST00000420222	.	.	.	4.83	-9.67	0.00531	.	.	.	.	.	T	0.32556	0.0833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43734	-0.9373	4	.	.	.	-10.2137	1.7176	0.02905	0.1233:0.3035:0.2353:0.3378	.	.	.	.	R	727	.	.	G	-	1	0	SH3PXD2A	105352565	0.000000	0.05858	0.838000	0.33150	0.606000	0.37113	-5.999000	0.00086	-1.235000	0.02545	-1.319000	0.01295	GGA		0.637	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		88	196	0	0	0	1	0	88	196				
CHRNA6	8973	broad.mit.edu	37	8	42611381	42611381	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:42611381T>C	ENST00000276410.2	-	5	1316	c.961A>G	c.(961-963)Act>Gct	p.T321A	CHRNA6_ENST00000534622.1_Missense_Mutation_p.T306A|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	321					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	ACAAACACAGTCACCACGATG	0.537																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(961-963)Act>Gct		cholinergic receptor, nicotinic, alpha 6 (neuronal)							103.0	90.0	94.0					8																	42611381		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611381T>C	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.961A>G	8.37:g.42611381T>C	ENSP00000276410:p.Thr321Ala					CHRNA6_ENST00000534622.1_Missense_Mutation_p.T306A	p.T321A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1316	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	321					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.961A>G	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800686	0.90538	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.83992	-1.79;-1.79	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	M	0.88979	2.995	0.80722	D	1	D;P	0.54964	0.969;0.939	P;P	0.61592	0.891;0.891	D	0.93123	0.6526	10	0.87932	D	0	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	306;321	B4DQH1;Q15825	.;ACHA6_HUMAN	A	321;306	ENSP00000276410:T321A;ENSP00000433871:T306A	ENSP00000276410:T321A	T	-	1	0	CHRNA6	42730538	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.967000	0.87967	2.281000	0.76405	0.533000	0.62120	ACT		0.537	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			6	98	0	0	0	1	0	6	98				
ADAMTS14	140766	broad.mit.edu	37	10	72462205	72462205	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:72462205C>T	ENST00000373207.1	+	3	660	c.660C>T	c.(658-660)gaC>gaT	p.D220D	ADAMTS14_ENST00000373208.1_Silent_p.D220D	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	220					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGAACCTGACGGGGACCTGC	0.617																																						ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(658-660)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							60.0	61.0	61.0					10																	72462205		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72462205C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.660C>T	10.37:g.72462205C>T						ADAMTS14_ENST00000373207.1_Silent_p.D220D	p.D220D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			3	660	+			220					Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.660C>T	CCDS7306.1																																																																																				0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		4	65	0	0	0	1	0	4	65				
FAM179B	23116	broad.mit.edu	37	14	45513865	45513865	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:45513865C>T	ENST00000361577.3	+	13	4160	c.3946C>T	c.(3946-3948)Cgt>Tgt	p.R1316C	KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.R1316C	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1316										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGAGTTTCTCGTGCTGCTGT	0.338																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(3946-3948)Cgt>Tgt		family with sequence similarity 179, member B							75.0	75.0	75.0					14																	45513865		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45513865C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.3946C>T	14.37:g.45513865C>T	ENSP00000355045:p.Arg1316Cys					FAM179B_ENST00000361577.3_Missense_Mutation_p.R1316C|FAM179B_ENST00000382233.2_3'UTR	p.R1316C			Q9Y4F4	F179B_HUMAN			13	4129	+			1316					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.3946C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570368	0.86542	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.16743	2.32;2.32	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.054165	0.64402	D	0.000001	T	0.38612	0.1047	M	0.70275	2.135	0.80722	D	1	D;D	0.62365	0.986;0.991	P;P	0.56163	0.793;0.793	T	0.09552	-1.0669	10	0.72032	D	0.01	-13.2581	19.6126	0.95616	0.0:1.0:0.0:0.0	.	1316;1316	G3XAE9;Q9Y4F4	.;F179B_HUMAN	C	1316	ENSP00000355045:R1316C;ENSP00000354917:R1316C	ENSP00000354917:R1316C	R	+	1	0	FAM179B	44583615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.871000	0.69628	2.730000	0.93505	0.650000	0.86243	CGT		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		11	40	0	0	0	1	0	11	40				
FHL5	9457	broad.mit.edu	37	6	97058503	97058503	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:97058503T>C	ENST00000326771.2	+	6	940	c.560T>C	c.(559-561)tTt>tCt	p.F187S	FHL5_ENST00000541107.1_Missense_Mutation_p.F187S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	187	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAAGAGTGTTTTCTGTGTAGT	0.448																																						ENST00000326771.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27						c.(559-561)tTt>tCt		four and a half LIM domains 5							289.0	264.0	273.0					6																	97058503		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97058503T>C	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.560T>C	6.37:g.97058503T>C	ENSP00000326022:p.Phe187Ser					FHL5_ENST00000541107.1_Missense_Mutation_p.F187S	p.F187S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	6	940	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	187			LIM zinc-binding 3.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.560T>C	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857330	0.91433	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.94000	-3.33;-3.33;-3.33	5.64	5.64	0.86602	Zinc finger, LIM-type (5);	0.000000	0.43110	D	0.000618	D	0.98595	0.9530	H	0.99951	5.03	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.99453	1.0941	10	0.87932	D	0	.	15.8597	0.79012	0.0:0.0:0.0:1.0	.	187	Q5TD97	FHL5_HUMAN	S	187	ENSP00000442357:F187S;ENSP00000326022:F187S;ENSP00000396390:F187S	ENSP00000326022:F187S	F	+	2	0	FHL5	97165224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.662000	0.83803	2.160000	0.67779	0.528000	0.53228	TTT		0.448	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		60	145	0	0	0	1	0	60	145				
ERN2	10595	broad.mit.edu	37	16	23707241	23707241	+	Silent	SNP	G	G	A	rs571051287		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23707241G>A	ENST00000457008.2	-	13	1466	c.1428C>T	c.(1426-1428)cgC>cgT	p.R476R	ERN2_ENST00000256797.4_Silent_p.R576R					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCCTGCCCCGCGGCCCAGCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15985	0.0		0.0	False		,,,				2504	0.001					ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1726-1728)cgC>cgT		endoplasmic reticulum to nucleus signaling 2							40.0	39.0	39.0					16																	23707241		2197	4300	6497	SO:0001819	synonymous_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23707241G>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1428C>T	16.37:g.23707241G>A						ERN2_ENST00000457008.2_Silent_p.R476R	p.R576R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	14	1896	-			528			Protein kinase.			Silent	SNP	ENST00000457008.2	37	c.1728C>T																																																																																					0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			8	24	0	0	0	1	0	8	24				
CSNK1G1	53944	broad.mit.edu	37	15	64506280	64506280	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64506280C>T	ENST00000303052.7	-	6	911	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R163Q|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R145Q|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R163Q	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTGACATCTCGGTAAATGAG	0.383																																						ENST00000303052.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(487-489)cGa>cAa		casein kinase 1, gamma 1							217.0	199.0	205.0					15																	64506280		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64506280C>T	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.488G>A	15.37:g.64506280C>T	ENSP00000305777:p.Arg163Gln					CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R163Q|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R163Q|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R145Q	p.R163Q	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN			6	911	-			163			Protein kinase.		Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.488G>A	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	C	36	5.855997	0.97030	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.74632	-0.86;-0.86	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	H	0.96633	3.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.988;0.996;0.998;0.998	D	0.93514	0.6855	10	0.87932	D	0	.	19.9508	0.97198	0.0:1.0:0.0:0.0	.	21;163;163;163	Q9H5M4;Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;.;KC1G1_HUMAN	Q	163;119;163	ENSP00000305777:R163Q;ENSP00000307753:R163Q	ENSP00000307753:R163Q	R	-	2	0	CSNK1G1	62293333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.890000	0.99128	0.585000	0.79938	CGA		0.383	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		44	102	0	0	0	1	0	44	102				
HERC3	8916	broad.mit.edu	37	4	89577167	89577167	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89577167C>T	ENST00000402738.1	+	9	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	HERC3_ENST00000543130.1_5'Flank|HERC3_ENST00000407637.1_Silent_p.G350G|HERC3_ENST00000264345.3_Silent_p.G350G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCACAGTGGCCAGCTTTCAG	0.423																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1048-1050)ggC>ggT		HECT and RLD domain containing E3 ubiquitin protein ligase 3							92.0	88.0	89.0					4																	89577167		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89577167C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1050C>T	4.37:g.89577167C>T						HERC3_ENST00000264345.3_Silent_p.G350G|HERC3_ENST00000407637.1_Silent_p.G350G	p.G350G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	9	1289	+			350					A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.1050C>T	CCDS34028.1																																																																																				0.423	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		9	70	0	0	0	1	0	9	70				
DSC2	1824	broad.mit.edu	37	18	28654830	28654830	+	Silent	SNP	G	G	A	rs201517977		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:28654830G>A	ENST00000280904.6	-	12	2150	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Silent_p.D569D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	569	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1705-1707)gaC>gaT		desmocollin 2							151.0	125.0	134.0					18																	28654830		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28654830G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1707C>T	18.37:g.28654830G>A						DSC2_ENST00000251081.6_Silent_p.D569D	p.D569D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		12	2150	-			569			Cadherin 4.			Silent	SNP	ENST00000280904.6	37	c.1707C>T	CCDS11892.1																																																																																				0.398	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		15	27	0	0	0	1	0	15	27				
C5orf22	55322	broad.mit.edu	37	5	31538687	31538687	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:31538687C>T	ENST00000325366.9	+	4	825	c.698C>T	c.(697-699)gCc>gTc	p.A233V	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	233										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGACTGCTGCCAGCACTGGG	0.408																																						ENST00000325366.9																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						c.(697-699)gCc>gTc		chromosome 5 open reading frame 22							51.0	50.0	51.0					5																	31538687		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31538687C>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.698C>T	5.37:g.31538687C>T	ENSP00000326879:p.Ala233Val					C5orf22_ENST00000355907.3_5'UTR	p.A233V	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN			4	825	+			233					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.698C>T	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	2.872	-0.233766	0.05983	.	.	ENSG00000082213	ENST00000325366	T	0.30448	1.53	5.99	-1.58	0.08479	.	0.714971	0.14431	N	0.319995	T	0.11836	0.0288	N	0.08118	0	0.19575	N	0.999968	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.16420	T	0.52	-0.3722	6.8331	0.23921	0.1867:0.1849:0.0:0.6284	.	233	Q49AR2	CE022_HUMAN	V	233	ENSP00000326879:A233V	ENSP00000326879:A233V	A	+	2	0	C5orf22	31574444	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.358000	0.07641	-0.280000	0.09154	-0.793000	0.03317	GCC		0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		9	27	0	0	0	1	0	9	27				
MMP21	118856	broad.mit.edu	37	10	127462562	127462562	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:127462562G>A	ENST00000368808.3	-	2	534	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	179					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CCCAGCAGCCGCCAGCTCAGC	0.731																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(535-537)Cgg>Tgg		matrix metallopeptidase 21							5.0	6.0	5.0					10																	127462562		1781	3552	5333	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127462562G>A	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.535C>T	10.37:g.127462562G>A	ENSP00000357798:p.Arg179Trp						p.R179W	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			2	534	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	179					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.535C>T	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208021	0.58343	.	.	ENSG00000154485	ENST00000368808	T	0.18174	2.23	4.73	-2.84	0.05751	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.89095	3.005	0.44477	D	0.997414	D	0.89917	1.0	D	0.87578	0.998	T	0.56727	-0.7931	10	0.72032	D	0.01	-5.5414	15.0842	0.72138	0.0:0.0:0.6782:0.3218	.	179	Q8N119	MMP21_HUMAN	W	179	ENSP00000357798:R179W	ENSP00000357798:R179W	R	-	1	2	MMP21	127452552	0.730000	0.28100	0.977000	0.42913	0.592000	0.36648	-0.425000	0.07017	-0.413000	0.07507	-1.527000	0.00925	CGG		0.731	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			9	18	0	0	0	1	0	9	18				
MYLIP	29116	broad.mit.edu	37	6	16143929	16143929	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:16143929G>T	ENST00000356840.3	+	5	860		c.e5-1		MYLIP_ENST00000349606.4_Splice_Site|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein						cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGTCTCTTAGGATAGCTTAT	0.453																																						ENST00000349606.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.e4-1		myosin regulatory light chain interacting protein							105.0	96.0	99.0					6																	16143929		2203	4300	6503	SO:0001630	splice_region_variant	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16143929G>T	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.663-1G>T	6.37:g.16143929G>T						MYLIP_ENST00000356840.3_Splice_Site				Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		4	623	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)						Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Splice_Site	SNP	ENST00000356840.3	37		CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312102	0.81358	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.321	0.94240	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYLIP	16251908	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	9.452000	0.97615	2.548000	0.85928	0.591000	0.81541	.		0.453	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262	Intron	7	90	1	0	8.12818e-05	1	8.30472e-05	7	90				
TAP2	6891	broad.mit.edu	37	6	32805336	32805336	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32805336T>C	ENST00000452392.2	-	3	759	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	TAP2_ENST00000374897.2_Missense_Mutation_p.M196V|TAP2_ENST00000374899.4_Missense_Mutation_p.M196V			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AAGAGGCACATGAAGAAGATG	0.493																																						ENST00000374897.2																			0											c.(586-588)Atg>Gtg		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							86.0	74.0	78.0					6																	32805336		2203	4300	6503	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32805336T>C	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.586A>G	6.37:g.32805336T>C	ENSP00000391806:p.Met196Val					TAP2_ENST00000374899.4_Missense_Mutation_p.M196V|TAP2_ENST00000452392.2_Missense_Mutation_p.M196V	p.M196V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			3	717	-			196			ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.586A>G		.	.	.	.	.	.	.	.	.	.	T	12.75	2.032017	0.35893	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.89343	-2.5;-2.5;-2.5	4.51	3.36	0.38483	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.739695	0.12906	N	0.429388	T	0.79868	0.4520	L	0.46819	1.47	0.47476	D	0.999437	B;B;B;B	0.31640	0.333;0.034;0.034;0.034	B;B;B;B	0.40329	0.326;0.038;0.038;0.038	T	0.71721	-0.4507	9	0.42905	T	0.14	-32.6723	8.0025	0.30306	0.0:0.0989:0.0:0.9011	.	196;197;196;196	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	V	196	ENSP00000364034:M196V;ENSP00000364032:M196V;ENSP00000391806:M196V	ENSP00000364032:M196V	M	-	1	0	XXbac-BPG246D15.9;TAP2	32913314	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.242000	0.43106	0.771000	0.33359	0.341000	0.21757	ATG		0.493	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		15	21	0	0	0	1	0	15	21				
MGP	4256	broad.mit.edu	37	12	15035143	15035143	+	Missense_Mutation	SNP	C	C	T	rs375828646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:15035143C>T	ENST00000539261.1	-	4	376	c.242G>A	c.(241-243)cGc>cAc	p.R81H	MGP_ENST00000228938.5_Missense_Mutation_p.R106H|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	81	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATGGCGTAGCGTTCGCAAAG	0.463																																						ENST00000539261.1																			0				large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						c.(241-243)cGc>cAc		matrix Gla protein							156.0	148.0	151.0					12																	15035143		2203	4300	6503	SO:0001583	missense	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15035143C>T	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.242G>A	12.37:g.15035143C>T	ENSP00000445907:p.Arg81His					MGP_ENST00000228938.5_Missense_Mutation_p.R106H|C12orf60_ENST00000527783.1_Intron	p.R81H	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN			4	376	-			81			Gla.		A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Missense_Mutation	SNP	ENST00000539261.1	37	c.242G>A	CCDS8669.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662123	0.67700	.	.	ENSG00000111341	ENST00000539261;ENST00000228938	D;D	0.99220	-5.58;-5.58	5.13	4.24	0.50183	Gamma-carboxyglutamic acid-rich (GLA) domain (5);	0.299010	0.32218	N	0.006413	D	0.98538	0.9512	L	0.61036	1.89	0.34062	D	0.657446	D	0.64830	0.994	P	0.55667	0.781	D	0.99940	1.1398	10	0.15066	T	0.55	-1.3297	9.507	0.39053	0.0:0.9048:0.0:0.0952	.	81	P08493	MGP_HUMAN	H	81;106	ENSP00000445907:R81H;ENSP00000228938:R106H	ENSP00000228938:R106H	R	-	2	0	MGP	14926410	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	0.727000	0.25999	1.532000	0.49169	0.655000	0.94253	CGC		0.463	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		13	208	0	0	0	1	0	13	208				
DENND4B	9909	broad.mit.edu	37	1	153913419	153913419	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:153913419C>T	ENST00000361217.4	-	9	1705	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	429	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGTCTGGCCGCAGCGAGT	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1285-1287)cgG>cgA		DENN/MADD domain containing 4B							16.0	23.0	21.0					1																	153913419		2067	4200	6267	SO:0001819	synonymous_variant	9909							g.chr1:153913419C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1287G>A	1.37:g.153913419C>T							p.R429R	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	1705	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		429			DENN.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.1287G>A	CCDS44228.1																																																																																				0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	15	0	0	0	1	0	7	15				
FZR1	51343	broad.mit.edu	37	19	3525878	3525878	+	Missense_Mutation	SNP	C	C	T	rs150420576		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3525878C>T	ENST00000395095.3	+	2	82	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	FZR1_ENST00000441788.2_Missense_Mutation_p.R28W|FZR1_ENST00000313639.8_Missense_Mutation_p.R28W	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	28					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGAGATGCGGCGGACCCT	0.662																																						ENST00000441788.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(82-84)Cgg>Tgg		fizzy/cell division cycle 20 related 1 (Drosophila)		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	35.0	36.0	36.0		82,82,82	2.2	1.0	19	dbSNP_134	36	0,8596		0,0,4298	no	missense,missense,missense	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	101,101,101	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	28/405,28/497,28/494	3525878	1,12999	2202	4298	6500	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3525878C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.82C>T	19.37:g.3525878C>T	ENSP00000378529:p.Arg28Trp					FZR1_ENST00000395095.3_Missense_Mutation_p.R28W|FZR1_ENST00000313639.8_Missense_Mutation_p.R28W	p.R28W	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	318	+			28					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.82C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467430	0.26335	2.27E-4	0.0	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08720	3.06;3.06;3.06	4.42	2.15	0.27550	.	0.349521	0.27539	N	0.018906	T	0.07007	0.0178	L	0.29908	0.895	0.25315	N	0.989167	P;B;D	0.54207	0.738;0.0;0.965	B;B;B	0.42422	0.28;0.0;0.387	T	0.22173	-1.0224	10	0.66056	D	0.02	-47.6934	10.0615	0.42277	0.6172:0.3828:0.0:0.0	.	28;28;28	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	W	28	ENSP00000410369:R28W;ENSP00000378529:R28W;ENSP00000321800:R28W	ENSP00000321800:R28W	R	+	1	2	FZR1	3476878	1.000000	0.71417	0.996000	0.52242	0.310000	0.27922	0.809000	0.27168	0.847000	0.35167	-0.268000	0.10319	CGG		0.662	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		21	39	0	0	0	1	0	21	39				
FAT4	79633	broad.mit.edu	37	4	126373019	126373019	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:126373019G>A	ENST00000394329.3	+	9	10861	c.10848G>A	c.(10846-10848)acG>acA	p.T3616T	FAT4_ENST00000335110.5_Silent_p.T1914T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3616	Cadherin 34. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTCGGACGGTGGAGATAT	0.438																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10846-10848)acG>acA		FAT atypical cadherin 4							75.0	77.0	76.0					4																	126373019		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373019G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10848G>A	4.37:g.126373019G>A						FAT4_ENST00000335110.5_Silent_p.T1914T	p.T3616T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10861	+			3616			Cadherin 34.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10848G>A	CCDS3732.3																																																																																				0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	98	0	0	0	1	0	6	98				
CTNND2	1501	broad.mit.edu	37	5	11082852	11082852	+	Missense_Mutation	SNP	G	G	A	rs139037354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:11082852G>A	ENST00000304623.8	-	16	2933	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	CTNND2_ENST00000359640.2_Missense_Mutation_p.A857V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A578V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A824V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.A482V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	915					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTCCGCAGCGCAGTGGCCAC	0.512																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2743-2745)gCg>gTg		catenin (cadherin-associated protein), delta 2		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	131.0	114.0	120.0		2744	5.0	0.6	5	dbSNP_134	120	0,8600		0,0,4300	no	missense	CTNND2	NM_001332.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	915/1226	11082852	1,13005	2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082852G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2744C>T	5.37:g.11082852G>A	ENSP00000307134:p.Ala915Val					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A857V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A578V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A824V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A482V	p.A915V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			16	2933	-			915					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2744C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305593	0.95601	2.27E-4	0.0	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.995;0.995;0.993	D	0.92363	0.5899	10	0.87932	D	0	-15.7291	18.7557	0.91832	0.0:0.0:1.0:0.0	.	578;507;915	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	915;857;824;10;482;578	ENSP00000307134:A915V;ENSP00000352661:A857V;ENSP00000426510:A824V;ENSP00000391155:A482V;ENSP00000426887:A578V	ENSP00000307134:A915V	A	-	2	0	CTNND2	11135852	1.000000	0.71417	0.621000	0.29145	0.925000	0.55904	9.813000	0.99286	2.505000	0.84491	0.563000	0.77884	GCG		0.512	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	83	0	0	0	1	0	23	83				
TEX13A	56157	broad.mit.edu	37	X	104464233	104464233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:104464233C>A	ENST00000413579.1	-	5	754	c.643G>T	c.(643-645)Gag>Tag	p.E215*	TEX13A_ENST00000372575.1_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	215							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCCCAGCCTCCACAGGGGGA	0.637																																						ENST00000413579.1																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(643-645)Gag>Tag		testis expressed 13A							18.0	21.0	20.0					X																	104464233		2043	4137	6180	SO:0001587	stop_gained	56157					intracellular	zinc ion binding	g.chrX:104464233C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.643G>T	X.37:g.104464233C>A	ENSP00000399753:p.Glu215*					TEX13A_ENST00000372578.3_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.W215C	p.E215*			Q9BXU3	TX13A_HUMAN			5	754	-			215					B1B1G8|Q32NB6	Nonsense_Mutation	SNP	ENST00000413579.1	37	c.643G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.705551|1.705551	0.30232|0.30232	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000413579|ENST00000372578;ENST00000372575	.|.	.|.	.|.	1.0|1.0	-2.0|-2.0	0.07433|0.07433	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53367	.|0.1792	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51521	.|-0.8695	.|5	0.06236|0.59425	T|D	0.91|0.04	.|.	2.5253|2.5253	0.04689|0.04689	0.0:0.4296:0.3093:0.2612|0.0:0.4296:0.3093:0.2612	.|.	.|.	.|.	.|.	X|C	215|215	.|.	ENSP00000399753:E215X|ENSP00000361656:W215C	E|W	-|-	1|3	0|0	TEX13A|TEX13A	104350889|104350889	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-1.336000|-1.336000	0.02660|0.02660	-0.838000|-0.838000	0.04218|0.04218	-0.422000|-0.422000	0.05995|0.05995	GAG|TGG		0.637	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		17	9	1	0	4.14922e-12	1	4.32094e-12	17	9				
TGFB2	7042	broad.mit.edu	37	1	218614599	218614599	+	Silent	SNP	C	C	T	rs201129153		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:218614599C>T	ENST00000366930.4	+	7	1607	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TGFB2_ENST00000366929.4_Silent_p.C408C|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	380					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.C408C(1)|p.C380C(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTCCTTGCTGCGTGTCCCAAG	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18880	0.0		0.0	False		,,,				2504	0.0					ENST00000366929.4																			2	Substitution - coding silent(2)	p.C408C(1)|p.C380C(1)	endometrium(2)	breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1222-1224)tgC>tgT		transforming growth factor, beta 2		C	,	1,4405	2.1+/-5.4	0,1,2202	123.0	123.0	123.0		1224,1140	-7.3	0.8	1		123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	TGFB2	NM_001135599.2,NM_003238.3	,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,	408/443,380/415	218614599	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218614599C>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.1140C>T	1.37:g.218614599C>T						TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.C380C	p.C408C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	8	1691	+			380					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.1224C>T	CCDS1521.1																																																																																				0.408	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		4	125	0	0	0	1	0	4	125				
VWF	7450	broad.mit.edu	37	12	6161936	6161936	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6161936C>T	ENST00000261405.5	-	16	2213	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	653	TIL 2.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGGCCTTTCGGGCAGTTCA	0.582																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1957-1959)ccG>ccA		von Willebrand factor	Antihemophilic Factor(DB00025)																																			SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161936C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1959G>A	12.37:g.6161936C>T							p.P653P	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			16	2213	-			653			TIL 2.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.1959G>A	CCDS8539.1																																																																																				0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		9	18	0	0	0	1	0	9	18				
CLCA4	22802	broad.mit.edu	37	1	87041173	87041173	+	Silent	SNP	C	C	T	rs372874690		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:87041173C>T	ENST00000370563.3	+	11	1884	c.1842C>T	c.(1840-1842)taC>taT	p.Y614Y	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	614					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGATTGTTTACGCAGAAATTC	0.398																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1840-1842)taC>taT		chloride channel accessory 4		C		0,3742		0,0,1871	148.0	137.0	140.0		1842	-0.6	1.0	1		140	1,8219		0,1,4109	no	coding-synonymous	CLCA4	NM_012128.3		0,1,5980	TT,TC,CC		0.0122,0.0,0.0084		614/920	87041173	1,11961	1871	4110	5981	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87041173C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1842C>T	1.37:g.87041173C>T						RP4-651E10.4_ENST00000456587.1_RNA	p.Y614Y	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	11	1884	+		Lung NSC(277;0.238)	614					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.1842C>T	CCDS41355.1																																																																																				0.398	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		30	93	0	0	0	1	0	30	93				
PCK2	5106	broad.mit.edu	37	14	24566322	24566322	+	Missense_Mutation	SNP	G	G	A	rs112490159		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24566322G>A	ENST00000216780.4	+	2	519	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	NRL_ENST00000396997.1_5'Flank|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.R96Q|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Missense_Mutation_p.R84Q	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	84					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGCCTCATCCGAAAGCTCCCC	0.547																																						ENST00000216780.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(250-252)cGa>cAa		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							67.0	65.0	66.0					14																	24566322		2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24566322G>A	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.251G>A	14.37:g.24566322G>A	ENSP00000216780:p.Arg84Gln					PCK2_ENST00000559250.1_Missense_Mutation_p.R96Q|PCK2_ENST00000561286.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.R84Q|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000545054.2_5'UTR	p.R84Q	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	2	519	+			84					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.251G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508760	0.44660	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	T;T	0.11277	2.79;2.79	5.52	4.63	0.57726	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.199092	0.43747	D	0.000528	T	0.05044	0.0135	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.21821	0.008;0.061;0.008	B;B;B	0.14578	0.011;0.006;0.011	T	0.41538	-0.9503	10	0.18276	T	0.48	-4.2763	8.5626	0.33520	0.1745:0.0:0.8255:0.0	.	84;84;84	Q16822;Q16822-2;Q6IB91	PCKGM_HUMAN;.;.	Q	84	ENSP00000216780:R84Q;ENSP00000380171:R84Q	ENSP00000216780:R84Q	R	+	2	0	PCK2	23636162	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.966000	0.70395	1.452000	0.47756	0.650000	0.86243	CGA		0.547	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		24	53	0	0	0	1	0	24	53				
GMDS	2762	broad.mit.edu	37	6	2124953	2124953	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2124953G>C	ENST00000380815.4	-	2	384	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	GMDS_ENST00000530927.1_Missense_Mutation_p.L9V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	39					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AACTCAGCCAGGTAGGAACCA	0.502																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(115-117)Ctg>Gtg		GDP-mannose 4,6-dehydratase							61.0	56.0	58.0					6																	2124953		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:2124953G>C	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.115C>G	6.37:g.2124953G>C	ENSP00000370194:p.Leu39Val					GMDS_ENST00000530927.1_Missense_Mutation_p.L9V	p.L39V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	2	384	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	39					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.115C>G	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962600	0.53400	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94966	-3.57;-3.57	5.16	3.93	0.45458	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000002	D	0.96778	0.8948	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96578	0.9428	10	0.87932	D	0	-22.0459	9.4811	0.38902	0.9061:0.0:0.0939:0.0	.	39	O60547	GMDS_HUMAN	V	9;39	ENSP00000436726:L9V;ENSP00000370194:L39V	ENSP00000370194:L39V	L	-	1	2	GMDS	2069952	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.827000	0.48112	0.717000	0.32145	-0.345000	0.07892	CTG		0.502	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			9	14	0	0	0	1	0	9	14				
BCS1L	617	broad.mit.edu	37	2	219525928	219525928	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219525928G>A	ENST00000431802.1	+	2	917	c.218G>A	c.(217-219)cGt>cAt	p.R73H	BCS1L_ENST00000392111.2_Missense_Mutation_p.R73H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R73H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R73H|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000439945.1_Missense_Mutation_p.R73H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R73H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R73H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	73			R -> C (in MC3DN1). {ECO:0000269|PubMed:17403714}.		mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGTACCCGTACTCAGCAC	0.537																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(217-219)cGt>cAt		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							131.0	132.0	132.0					2																	219525928		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525928G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.218G>A	2.37:g.219525928G>A	ENSP00000413908:p.Arg73His					BCS1L_ENST00000392110.2_Missense_Mutation_p.R73H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R73H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R73H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R73H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R73H|BCS1L_ENST00000412366.1_Missense_Mutation_p.R73H	p.R73H			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	917	+		Renal(207;0.0474)	73		R -> C (in MT-C3D).			B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.218G>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810330	0.50421	.	.	ENSG00000074582	ENST00000428880;ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98;-3.98	5.46	5.46	0.80206	BCS1, N-terminal (1);	0.121189	0.56097	D	0.000027	D	0.90553	0.7039	N	0.17564	0.495	0.40960	D	0.984613	B	0.18610	0.029	B	0.16289	0.015	D	0.86191	0.1612	10	0.31617	T	0.26	-9.8806	9.281	0.37729	0.2003:0.0:0.7997:0.0	.	73	Q9Y276	BCS1_HUMAN	H	73	ENSP00000391007:R73H;ENSP00000398957:R73H;ENSP00000395440:R73H;ENSP00000352219:R73H;ENSP00000375957:R73H;ENSP00000375958:R73H;ENSP00000397293:R73H;ENSP00000375959:R73H;ENSP00000406494:R73H;ENSP00000404999:R73H;ENSP00000413908:R73H	ENSP00000352219:R73H	R	+	2	0	BCS1L	219234172	0.998000	0.40836	0.947000	0.38551	0.991000	0.79684	3.147000	0.50639	2.542000	0.85734	0.655000	0.94253	CGT		0.537	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		6	159	0	0	0	1	0	6	159				
POLD1	5424	broad.mit.edu	37	19	50905529	50905529	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50905529C>T	ENST00000440232.2	+	6	710	c.657C>T	c.(655-657)ctC>ctT	p.L219L	POLD1_ENST00000595904.1_Silent_p.L219L|POLD1_ENST00000599857.1_Silent_p.L219L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	219					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCGCGCCTCGTGGCCCCGG	0.687								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(655-657)ctC>ctT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							30.0	35.0	33.0					19																	50905529		2194	4273	6467	SO:0001819	synonymous_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905529C>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.657C>T	19.37:g.50905529C>T						POLD1_ENST00000595904.1_Silent_p.L219L|POLD1_ENST00000599857.1_Silent_p.L219L	p.L219L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	6	710	+		all_neural(266;0.0571)	219					Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	c.657C>T	CCDS12795.1																																																																																				0.687	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			9	71	0	0	0	1	0	9	71				
CMBL	134147	broad.mit.edu	37	5	10290659	10290659	+	Splice_Site	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10290659C>T	ENST00000296658.3	-	2	636		c.e2+1		CMBL_ENST00000510532.1_Splice_Site|Y_RNA_ENST00000516532.1_RNA	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTTATACATACGTGTATCCAT	0.348																																						ENST00000296658.3																			0				endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						c.e2+1		carboxymethylenebutenolidase homolog (Pseudomonas)							71.0	70.0	70.0					5																	10290659		2203	4300	6503	SO:0001630	splice_region_variant	134147					cytosol	hydrolase activity|protein binding	g.chr5:10290659C>T		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.215+1G>A	5.37:g.10290659C>T						CMBL_ENST00000510532.1_Splice_Site		NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN			2	636	-								D3DTC7|Q8TED6	Splice_Site	SNP	ENST00000296658.3	37		CCDS3878.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012870	0.75161	.	.	ENSG00000164237	ENST00000296658	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2909	0.90130	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CMBL	10343659	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	6.877000	0.75562	2.564000	0.86499	0.650000	0.86243	.		0.348	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809	Intron	30	63	0	0	0	1	0	30	63				
OTOF	9381	broad.mit.edu	37	2	26741909	26741909	+	Missense_Mutation	SNP	G	G	A	rs555829802		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26741909G>A	ENST00000272371.2	-	4	422	c.296C>T	c.(295-297)aCg>aTg	p.T99M	OTOF_ENST00000403946.3_Missense_Mutation_p.T99M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	99					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.T99M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAATCAGCGTGTCAGTCAC	0.577																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			1	Substitution - Missense(1)	p.T99M(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(295-297)aCg>aTg		otoferlin							148.0	108.0	121.0					2																	26741909		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26741909G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.296C>T	2.37:g.26741909G>A	ENSP00000272371:p.Thr99Met					OTOF_ENST00000403946.3_Missense_Mutation_p.T99M	p.T99M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			4	422	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.296C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108460	0.77096	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.72051	-0.62;-0.62	5.05	4.18	0.49190	C2 calcium/lipid-binding domain, CaLB (1);	0.050741	0.85682	D	0.000000	T	0.67135	0.2861	M	0.62723	1.935	0.51482	D	0.999924	B	0.19935	0.04	B	0.17098	0.017	T	0.66980	-0.5786	10	0.72032	D	0.01	-12.4287	11.8556	0.52435	0.0861:0.0:0.9139:0.0	.	99	Q9HC10	OTOF_HUMAN	M	99	ENSP00000272371:T99M;ENSP00000385255:T99M	ENSP00000272371:T99M	T	-	2	0	OTOF	26595413	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	6.844000	0.75390	1.262000	0.44165	0.563000	0.77884	ACG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	6	0	0	0	1	0	4	6				
AKAP1	8165	broad.mit.edu	37	17	55193500	55193500	+	Silent	SNP	G	G	A	rs377588182		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:55193500G>A	ENST00000337714.3	+	7	2543	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	AKAP1_ENST00000572557.1_Silent_p.A770A|AKAP1_ENST00000539273.1_Silent_p.A770A|AKAP1_ENST00000571629.1_Silent_p.A770A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	770	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTGGTGCGGACGGGGCCT	0.632																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(2308-2310)gcG>gcA		A kinase (PRKA) anchor protein 1		G	,,	1,4405	2.1+/-5.4	0,1,2202	74.0	59.0	64.0		2310,2310,2310	1.9	0.2	17		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKAP1	NM_001242902.1,NM_001242903.1,NM_003488.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	770/904,770/904,770/904	55193500	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55193500G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2310G>A	17.37:g.55193500G>A						AKAP1_ENST00000571629.1_Silent_p.A770A|AKAP1_ENST00000539273.1_Silent_p.A770A|AKAP1_ENST00000572557.1_Silent_p.A770A	p.A770A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			7	2543	+	Breast(9;5.46e-08)		770			Tudor.		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.2310G>A	CCDS11594.1																																																																																				0.632	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			21	26	0	0	0	1	0	21	26				
TAF7L	54457	broad.mit.edu	37	X	100532632	100532632	+	Missense_Mutation	SNP	G	G	A	rs371127896		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100532632G>A	ENST00000372907.3	-	9	922	c.911C>T	c.(910-912)tCg>tTg	p.S304L	TAF7L_ENST00000356784.1_Missense_Mutation_p.S218L|TAF7L_ENST00000372905.2_Missense_Mutation_p.S218L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S218L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	304					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCATTCCCGAGGATATCAA	0.468																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(910-912)tCg>tTg		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa			LEU/SER,LEU/SER	0,3835		0,0,1632,571	178.0	168.0	172.0		653,911	3.3	0.0	X		172	1,6727		0,1,2427,1872	no	missense,missense	TAF7L	NM_001168474.1,NM_024885.3	145,145	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging	218/377,304/463	100532632	1,10562	2203	4300	6503	SO:0001583	missense	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100532632G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.911C>T	X.37:g.100532632G>A	ENSP00000361998:p.Ser304Leu					TAF7L_ENST00000372905.2_Missense_Mutation_p.S218L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S218L|TAF7L_ENST00000356784.1_Missense_Mutation_p.S218L	p.S304L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			9	922	-			304					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	c.911C>T	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	g	18.30	3.592688	0.66219	0.0	1.49E-4	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.24151	3.64;1.87;1.87;3.01	5.18	3.34	0.38264	.	1.085220	0.07169	N	0.851966	T	0.25644	0.0624	M	0.61703	1.905	0.22989	N	0.998469	P;B	0.48640	0.913;0.196	B;B	0.36378	0.223;0.019	T	0.19844	-1.0293	10	0.41790	T	0.15	1.7691	9.3284	0.38008	0.078:0.0:0.7777:0.1443	.	304;218	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	L	304;218;218;218	ENSP00000361998:S304L;ENSP00000361996:S218L;ENSP00000320283:S218L;ENSP00000349235:S218L	ENSP00000320283:S218L	S	-	2	0	TAF7L	100419288	1.000000	0.71417	0.003000	0.11579	0.017000	0.09413	3.639000	0.54339	0.447000	0.26695	0.597000	0.82753	TCG		0.468	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			5	133	0	0	0	1	0	5	133				
NUBPL	80224	broad.mit.edu	37	14	32142777	32142777	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:32142777G>A	ENST00000281081.7	+	6	555	c.510G>A	c.(508-510)agG>agA	p.R170R	NUBPL_ENST00000536705.1_Silent_p.R74R	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	170					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AATTGTTGAGGCAGGTAAGAA	0.368																																						ENST00000281081.7																			0				endometrium(1)|lung(2)|prostate(1)|skin(1)	5						c.(508-510)agG>agA		nucleotide binding protein-like							104.0	92.0	96.0					14																	32142777		1833	4083	5916	SO:0001819	synonymous_variant	80224				mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	g.chr14:32142777G>A	AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.510G>A	14.37:g.32142777G>A						NUBPL_ENST00000536705.1_Silent_p.R74R	p.R170R	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)	6	555	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		170					B4DHZ1|Q86TZ4|Q9H9M2	Silent	SNP	ENST00000281081.7	37	c.510G>A	CCDS41940.1																																																																																				0.368	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409519.1	NM_025152		5	67	0	0	0	1	0	5	67				
HSPG2	3339	broad.mit.edu	37	1	22161191	22161191	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22161191G>A	ENST00000374695.3	-	77	10780	c.10701C>T	c.(10699-10701)caC>caT	p.H3567H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3567	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCAGCAGGACGTGGGATTGTG	0.622																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(10699-10701)caC>caT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						85.0	60.0	68.0					1																	22161191		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22161191G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10701C>T	1.37:g.22161191G>A							p.H3567H	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	77	10780	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3567			Ig-like C2-type 21.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.10701C>T	CCDS30625.1																																																																																				0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	29	0	0	0	1	0	16	29				
MYH7B	57644	broad.mit.edu	37	20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A	rs571377722		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33577720G>A	ENST00000262873.7	+	18	1983	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	589	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1891-1893)Gtg>Atg		myosin, heavy chain 7B, cardiac muscle, beta							40.0	44.0	43.0					20																	33577720		2098	4232	6330	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577720G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1891G>A	20.37:g.33577720G>A	ENSP00000262873:p.Val631Met						p.V631M	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		18	1983	+			589			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1891G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140622	0.56936	.	.	ENSG00000078814	ENST00000262873	D	0.87256	-2.23	4.17	4.17	0.49024	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004043	D	0.92331	0.7567	M	0.72118	2.19	0.41505	D	0.988305	D	0.76494	0.999	D	0.67103	0.949	D	0.93354	0.6721	10	0.62326	D	0.03	.	17.0319	0.86463	0.0:0.0:1.0:0.0	.	589	A7E2Y1	MYH7B_HUMAN	M	631	ENSP00000262873:V631M	ENSP00000262873:V631M	V	+	1	0	MYH7B	33041381	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	4.573000	0.60893	2.319000	0.78375	0.561000	0.74099	GTG		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	33	0	0	0	1	0	14	33				
RAB11FIP5	26056	broad.mit.edu	37	2	73316367	73316367	+	Missense_Mutation	SNP	G	G	A	rs374041276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73316367G>A	ENST00000258098.6	-	2	748	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGTTGTTGCGCGTGAACTGG	0.537																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(508-510)Cgc>Tgc		RAB11 family interacting protein 5 (class I)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	329.0	319.0	323.0		508	4.6	1.0	2		323	0,8600		0,0,4300	no	missense	RAB11FIP5	NM_015470.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	170/654	73316367	1,13005	2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316367G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.508C>T	2.37:g.73316367G>A	ENSP00000258098:p.Arg170Cys					RAB11FIP5_ENST00000493523.2_5'UTR	p.R170C	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			2	748	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.508C>T	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991857	0.74703	2.27E-4	0.0	ENSG00000135631	ENST00000258098	T	0.33654	1.4	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.66408	-0.5931	10	0.66056	D	0.02	-18.9627	16.5264	0.84332	0.0:0.0:1.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	C	170	ENSP00000258098:R170C	ENSP00000258098:R170C	R	-	1	0	RAB11FIP5	73169875	1.000000	0.71417	0.956000	0.39512	0.937000	0.57800	3.106000	0.50322	2.570000	0.86706	0.561000	0.74099	CGC		0.537	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		14	331	0	0	0	1	0	14	331				
OBSCN	84033	broad.mit.edu	37	1	228557668	228557668	+	Missense_Mutation	SNP	G	G	A	rs199654965		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228557668G>A	ENST00000422127.1	+	91	20037	c.19993G>A	c.(19993-19995)Ggc>Agc	p.G6665S	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4299S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7622S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6665	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATTTGCCGGCGAGAGTGA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		20137	0.0		0.0	False		,,,				2504	0.001					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(22864-22866)Ggc>Agc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	SER/GLY	1,4073		0,1,2036	70.0	72.0	72.0		19993	4.8	0.0	1		72	1,8369		0,1,4184	yes	missense	OBSCN	NM_001098623.1	56	0,2,6220	AA,AG,GG		0.0119,0.0245,0.0161	probably-damaging	6665/7969	228557668	2,12442	2037	4185	6222	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228557668G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19993G>A	1.37:g.228557668G>A	ENSP00000409493:p.Gly6665Ser					OBSCN_ENST00000422127.1_Missense_Mutation_p.G6665S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4299S	p.G7622S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			102	22938	+		Prostate(94;0.0405)	6665			Fibronectin type-III 4.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.22864G>A	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.0|20.0	3.931020|3.931020	0.73327|0.73327	2.45E-4|2.45E-4	1.19E-4|1.19E-4	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.46451|.	0.87;0.87|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.72748|0.72748	0.3499|0.3499	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72178|0.72178	-0.4369|-0.4369	9|5	0.19590|.	T|.	0.45|.	.|.	16.174|16.174	0.81840|0.81840	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6665|.	Q5VST9|.	OBSCN_HUMAN|.	S|Q	6665;4299|1281	ENSP00000409493:G6665S;ENSP00000355668:G4299S|.	ENSP00000355668:G4299S|.	G|R	+|+	1|2	0|0	OBSCN|OBSCN	226624291|226624291	1.000000|1.000000	0.71417|0.71417	0.039000|0.039000	0.18376|0.18376	0.271000|0.271000	0.26615|0.26615	8.809000|8.809000	0.91944|0.91944	2.495000|2.495000	0.84180|0.84180	0.455000|0.455000	0.32223|0.32223	GGC|CGG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	52	0	0	0	1	0	16	52				
AFF1	4299	broad.mit.edu	37	4	87967875	87967875	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:87967875G>A	ENST00000307808.6	+	3	587	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	AFF1_ENST00000395146.4_Missense_Mutation_p.R63Q|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	56					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTGTCTAGTCGAATACAGAAC	0.373																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(166-168)cGa>cAa		AF4/FMR2 family, member 1							154.0	158.0	156.0					4																	87967875		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967875G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.167G>A	4.37:g.87967875G>A	ENSP00000305689:p.Arg56Gln					AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R63Q	p.R56Q	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	587	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	56					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.167G>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390845	0.62066	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.5	4.64	0.57946	.	0.092010	0.45361	D	0.000377	D	0.87759	0.6258	M	0.84326	2.69	0.47183	D	0.999348	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.80764	0.99;0.971;0.994;0.994;0.99	D	0.87750	0.2591	10	0.48119	T	0.1	-15.5958	14.0708	0.64858	0.0725:0.0:0.9275:0.0	.	63;63;56;56;63	E9PBM3;B4DXZ8;Q14C88;P51825;B4DTU1	.;.;.;AFF1_HUMAN;.	Q	63;63;63;63;56	ENSP00000378578:R63Q;ENSP00000427593:R63Q;ENSP00000424483:R63Q;ENSP00000305689:R56Q	ENSP00000305689:R56Q	R	+	2	0	AFF1	88186899	0.999000	0.42202	0.467000	0.27180	0.429000	0.31625	5.138000	0.64795	2.748000	0.94277	0.655000	0.94253	CGA		0.373	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		58	184	0	0	0	1	0	58	184				
PLEKHA4	57664	broad.mit.edu	37	19	49363681	49363681	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49363681G>A	ENST00000263265.6	-	6	957	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PLEKHA4_ENST00000355496.5_Silent_p.A134A|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	134	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTGTCAGCGGCCAAAACGT	0.652																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(400-402)gcC>gcT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							59.0	60.0	60.0					19																	49363681		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49363681G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.402C>T	19.37:g.49363681G>A						PLEKHA4_ENST00000355496.5_Silent_p.A134A	p.A134A	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	6	957	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	134			PH.		Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	c.402C>T	CCDS12737.1																																																																																				0.652	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			30	76	0	0	0	1	0	30	76				
SPTBN1	6711	broad.mit.edu	37	2	54876764	54876764	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:54876764C>T	ENST00000356805.4	+	26	5496	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.R1726*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1739	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTACAAGAACGATTCCGGGA	0.498																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5176-5178)Cga>Tga		spectrin, beta, non-erythrocytic 1							47.0	48.0	48.0					2																	54876764		2203	4300	6503	SO:0001587	stop_gained	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54876764C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5215C>T	2.37:g.54876764C>T	ENSP00000349259:p.Arg1739*					SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.R1739*	p.R1726*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		25	5561	+			1739			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	c.5176C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	48	14.324926	0.99790	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.76	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	14.7963	0.69881	0.2627:0.7373:0.0:0.0	.	.	.	.	X	1739;1726	.	ENSP00000334156:R1726X	R	+	1	2	SPTBN1	54730268	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.821000	0.55700	1.381000	0.46364	0.555000	0.69702	CGA		0.498	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			4	17	0	0	0	1	0	4	17				
DSCAML1	57453	broad.mit.edu	37	11	117310075	117310075	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:117310075G>A	ENST00000321322.6	-	23	4232	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1141C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1351	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCACTGCACGCAGCAGCAGT	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4231-4233)Cgt>Tgt		Down syndrome cell adhesion molecule like 1							113.0	96.0	102.0					11																	117310075		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117310075G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4231C>T	11.37:g.117310075G>A	ENSP00000315465:p.Arg1411Cys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1141C	p.R1411C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	23	4232	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1351			Fibronectin type-III 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.4231C>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645616	0.67358	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.68479	-0.33;-0.33	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83519	0.5272	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86202	0.1619	9	0.87932	D	0	.	18.2491	0.89997	0.0:0.0:1.0:0.0	.	1351	Q8TD84	DSCL1_HUMAN	C	1141;1411;1118	ENSP00000434335:R1141C;ENSP00000315465:R1411C	ENSP00000315465:R1411C	R	-	1	0	DSCAML1	116815285	1.000000	0.71417	0.839000	0.33178	0.147000	0.21601	9.657000	0.98554	2.549000	0.85964	0.561000	0.74099	CGT		0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		25	65	0	0	0	1	0	25	65				
ICMT	23463	broad.mit.edu	37	1	6285255	6285255	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6285255C>T	ENST00000343813.5	-	5	768	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ICMT_ENST00000495791.1_5'Flank	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	247					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCTGTTCGATCGCGGAA	0.522																																						ENST00000343813.5																			0				NS(1)|endometrium(2)	3						c.(739-741)cGa>cAa		isoprenylcysteine carboxyl methyltransferase							89.0	92.0	91.0					1																	6285255		2203	4300	6503	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6285255C>T	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.740G>A	1.37:g.6285255C>T	ENSP00000343552:p.Arg247Gln						p.R247Q	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	5	768	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	247					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.740G>A	CCDS61.1	.	.	.	.	.	.	.	.	.	.	C	36	5.632857	0.96682	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.85902	0.5805	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87797	0.2622	9	0.72032	D	0.01	.	19.1066	0.93299	0.0:1.0:0.0:0.0	.	247	O60725	ICMT_HUMAN	Q	247;151	.	ENSP00000343552:R247Q	R	-	2	0	ICMT	6207842	1.000000	0.71417	0.309000	0.25155	0.906000	0.53458	7.235000	0.78143	2.769000	0.95229	0.655000	0.94253	CGA		0.522	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1	NM_012405		27	99	0	0	0	1	0	27	99				
NR4A2	4929	broad.mit.edu	37	2	157186312	157186312	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:157186312C>T	ENST00000339562.4	-	3	749	c.387G>A	c.(385-387)acG>acA	p.T129T	NR4A2_ENST00000539077.1_Silent_p.T140T|NR4A2_ENST00000426264.1_Silent_p.T66T|NR4A2_ENST00000429376.1_Silent_p.T66T|NR4A2_ENST00000409108.2_Silent_p.T129T|NR4A2_ENST00000409572.1_Silent_p.T129T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	129	Gln-rich.|Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGTGGTGGGCGTCGGGGGCG	0.627																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(385-387)acG>acA		nuclear receptor subfamily 4, group A, member 2							57.0	68.0	64.0					2																	157186312		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186312C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.387G>A	2.37:g.157186312C>T						NR4A2_ENST00000429376.1_Silent_p.T66T|NR4A2_ENST00000539077.1_Silent_p.T140T|NR4A2_ENST00000426264.1_Silent_p.T66T|NR4A2_ENST00000409572.1_Silent_p.T129T|NR4A2_ENST00000409108.2_Silent_p.T129T	p.T129T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			3	749	-			129			Gln-rich.|Pro-rich.		Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	c.387G>A	CCDS2201.1																																																																																				0.627	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			44	112	0	0	0	1	0	44	112				
SLC5A1	6523	broad.mit.edu	37	22	32500781	32500781	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32500781T>C	ENST00000266088.4	+	14	1924	c.1674T>C	c.(1672-1674)cgT>cgC	p.R558R	SLC5A1_ENST00000543737.1_Silent_p.R431R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	558					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGCTCTACCGTCTGTGTTGGA	0.502																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1672-1674)cgT>cgC		solute carrier family 5 (sodium/glucose cotransporter), member 1							85.0	73.0	77.0					22																	32500781		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32500781T>C		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1674T>C	22.37:g.32500781T>C						SLC5A1_ENST00000543737.1_Silent_p.R431R	p.R558R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			14	1924	+			558					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1674T>C	CCDS13902.1																																																																																				0.502	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		12	39	0	0	0	1	0	12	39				
VPS41	27072	broad.mit.edu	37	7	38829422	38829422	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:38829422G>A	ENST00000310301.4	-	10	817	c.763C>T	c.(763-765)Cca>Tca	p.P255S	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.P230S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	255					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TATCGACTTGGCAAATCCCTC	0.393																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(763-765)Cca>Tca		vacuolar protein sorting 41 homolog (S. cerevisiae)							159.0	141.0	147.0					7																	38829422		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38829422G>A	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.763C>T	7.37:g.38829422G>A	ENSP00000309457:p.Pro255Ser					VPS41_ENST00000395969.2_Missense_Mutation_p.P230S|VPS41_ENST00000466017.1_5'UTR	p.P255S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			10	817	-			255					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.763C>T	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569813	0.86439	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.60424	0.19;0.19	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.72037	-0.4411	10	0.48119	T	0.1	-10.5186	20.5752	0.99366	0.0:0.0:1.0:0.0	.	255;230;255	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	S	255;230	ENSP00000309457:P255S;ENSP00000379297:P230S	ENSP00000309457:P255S	P	-	1	0	VPS41	38795947	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.623000	0.98386	2.868000	0.98415	0.557000	0.71058	CCA		0.393	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			29	72	0	0	0	1	0	29	72				
AIFM2	84883	broad.mit.edu	37	10	71883673	71883673	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:71883673G>A	ENST00000307864.1	-	2	381	c.168C>T	c.(166-168)tcC>tcT	p.S56S	AIFM2_ENST00000373248.1_Silent_p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	56					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGTCTCCACGGAGGCTCGGA	0.602																																						ENST00000307864.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						c.(166-168)tcC>tcT		apoptosis-inducing factor, mitochondrion-associated, 2							38.0	35.0	36.0					10																	71883673		2203	4300	6503	SO:0001819	synonymous_variant	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71883673G>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.168C>T	10.37:g.71883673G>A						AIFM2_ENST00000373248.1_Silent_p.S56S	p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN			2	381	-			56					B3KXI0|Q63Z39	Silent	SNP	ENST00000307864.1	37	c.168C>T	CCDS7297.1																																																																																				0.602	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		9	24	0	0	0	1	0	9	24				
PLCD4	84812	broad.mit.edu	37	2	219494309	219494309	+	Missense_Mutation	SNP	G	G	A	rs368373841		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219494309G>A	ENST00000450993.2	+	8	1381	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	PLCD4_ENST00000432688.1_Missense_Mutation_p.V348I|PLCD4_ENST00000417849.1_Missense_Mutation_p.V348I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	348	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAACCTGTCGTTTACCACGG	0.592																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(1042-1044)Gtt>Att		phospholipase C, delta 4		G	ILE/VAL	0,4192		0,0,2096	73.0	79.0	77.0		1042	5.1	1.0	2		77	2,8416		0,2,4207	no	missense	PLCD4	NM_032726.3	29	0,2,6303	AA,AG,GG		0.0238,0.0,0.0159	benign	348/763	219494309	2,12608	2096	4209	6305	SO:0001583	missense	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219494309G>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.1042G>A	2.37:g.219494309G>A	ENSP00000388631:p.Val348Ile					PLCD4_ENST00000432688.1_Missense_Mutation_p.V348I|PLCD4_ENST00000417849.1_Missense_Mutation_p.V348I	p.V348I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1381	+		Renal(207;0.0915)	348			PI-PLC X-box.		Q53FS8	Missense_Mutation	SNP	ENST00000450993.2	37	c.1042G>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629835	0.28978	0.0	2.38E-4	ENSG00000115556	ENST00000450993;ENST00000251959;ENST00000417849;ENST00000432688	T;T;T	0.57907	0.37;0.37;0.37	5.09	5.09	0.68999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.11284	0.12	0.49051	D	0.999744	D	0.89917	1.0	D	0.91635	0.999	T	0.39121	-0.9629	10	0.02654	T	1	.	18.2986	0.90155	0.0:0.0:1.0:0.0	.	348	Q9BRC7	PLCD4_HUMAN	I	348	ENSP00000388631:V348I;ENSP00000396942:V348I;ENSP00000396185:V348I	ENSP00000251959:V348I	V	+	1	0	PLCD4	219202553	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	4.616000	0.61197	2.657000	0.90304	0.491000	0.48974	GTT		0.592	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			12	35	0	0	0	1	0	12	35				
APOA4	337	broad.mit.edu	37	11	116692116	116692116	+	Missense_Mutation	SNP	G	G	A	rs375764097		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:116692116G>A	ENST00000357780.3	-	3	772	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	220	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGGCTGCGGCGCAGCTCCTCC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19425	0.0		0.0	False		,,,				2504	0.0					ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(658-660)Cgc>Tgc		apolipoprotein A-IV		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	156.0	154.0	154.0		658	5.0	1.0	11		154	0,8584		0,0,4292	no	missense	APOA4	NM_000482.3	180	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	220/397	116692116	1,12985	2201	4292	6493	SO:0001583	missense	337							g.chr11:116692116G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.658C>T	11.37:g.116692116G>A	ENSP00000350425:p.Arg220Cys						p.R220C	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	772	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.658C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782751	0.90282	2.27E-4	0.0	ENSG00000110244	ENST00000357780	T	0.79352	-1.26	4.96	4.96	0.65561	Apolipoprotein/apolipophorin (1);	0.089077	0.49916	D	0.000134	D	0.90338	0.6977	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92524	0.6027	10	0.87932	D	0	-22.0225	17.7718	0.88495	0.0:0.0:1.0:0.0	.	220	P06727	APOA4_HUMAN	C	220	ENSP00000350425:R220C	ENSP00000350425:R220C	R	-	1	0	APOA4	116197326	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.666000	0.54540	2.302000	0.77476	0.563000	0.77884	CGC		0.582	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		6	188	0	0	0	1	0	6	188				
ZNF33B	7582	broad.mit.edu	37	10	43088126	43088126	+	Missense_Mutation	SNP	A	A	G	rs561268897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:43088126A>G	ENST00000359467.3	-	5	2386	c.2272T>C	c.(2272-2274)Ttc>Ctc	p.F758L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTGAGAGAAGGTTTTCCTG	0.373																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(2272-2274)Ttc>Ctc		zinc finger protein 33B							149.0	143.0	145.0					10																	43088126		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088126A>G	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.2272T>C	10.37:g.43088126A>G	ENSP00000352444:p.Phe758Leu					ZNF33B_ENST00000486187.1_RNA	p.F758L	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2386	-			758					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.2272T>C	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015737	0.35606	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.46063	0.88	2.5	2.5	0.30297	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35378	N	0.003255	T	0.50000	0.1590	M	0.92604	3.325	0.32529	N	0.535242	B	0.06786	0.001	B	0.12837	0.008	T	0.63157	-0.6700	10	0.87932	D	0	.	8.8861	0.35404	1.0:0.0:0.0:0.0	.	758	Q06732	ZN33B_HUMAN	L	758;724	ENSP00000352444:F758L	ENSP00000352444:F758L	F	-	1	0	ZNF33B	42408132	1.000000	0.71417	0.992000	0.48379	0.606000	0.37113	5.710000	0.68392	1.394000	0.46624	0.336000	0.21669	TTC		0.373	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		4	155	0	0	0	1	0	4	155				
HTR6	3362	broad.mit.edu	37	1	20005666	20005666	+	Silent	SNP	G	G	A	rs201944154		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20005666G>A	ENST00000289753.1	+	3	1595	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	376					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CCCTGCCGCCGGACTCAGATT	0.736																																					Esophageal Squamous(168;1879 2619 6848 21062)	ENST00000289753.1																			0				endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1126-1128)ccG>ccA		5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						5.0	7.0	7.0					1																	20005666		2108	4164	6272	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:20005666G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.1128G>A	1.37:g.20005666G>A							p.P376P	NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	3	1595	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	376					Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.1128G>A	CCDS197.1																																																																																				0.736	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		6	15	0	0	0	1	0	6	15				
KMT2D	8085	broad.mit.edu	37	12	49444729	49444729	+	Missense_Mutation	SNP	C	C	T	rs199724002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49444729C>T	ENST00000301067.7	-	10	2736	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	913	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCAGCTCCTCGGGCAGAGGG	0.597																																						ENST00000301067.7																			0											c.(2737-2739)Gag>Aag		lysine (K)-specific methyltransferase 2D							59.0	66.0	64.0					12																	49444729		2030	4170	6200	SO:0001583	missense	8085							g.chr12:49444729C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2737G>A	12.37:g.49444729C>T	ENSP00000301067:p.Glu913Lys						p.E913K	NM_003482.3	NP_003473.3					10	2736	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2737G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.013	0.983046	0.18889	.	.	ENSG00000167548	ENST00000301067	T	0.80738	-1.41	3.68	1.81	0.25067	.	.	.	.	.	T	0.59542	0.2201	N	0.08118	0	0.19300	N	0.999976	B	0.20261	0.043	B	0.12837	0.008	T	0.52366	-0.8585	9	0.87932	D	0	.	3.9574	0.09396	0.0:0.58:0.2001:0.2199	.	913	O14686	MLL2_HUMAN	K	913	ENSP00000301067:E913K	ENSP00000301067:E913K	E	-	1	0	MLL2	47730996	0.000000	0.05858	0.966000	0.40874	0.975000	0.68041	0.360000	0.20250	0.522000	0.28464	0.563000	0.77884	GAG		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	129	0	0	0	1	0	4	129				
PDZD2	23037	broad.mit.edu	37	5	32059348	32059348	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32059348C>T	ENST00000438447.1	+	13	2592	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P735L			O15018	PDZD2_HUMAN	PDZ domain containing 2	735	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCACAGAGCCAAGAGTTGGA	0.408																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(2203-2205)cCa>cTa		PDZ domain containing 2							65.0	57.0	60.0					5																	32059348		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32059348C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2204C>T	5.37:g.32059348C>T	ENSP00000402033:p.Pro735Leu					PDZD2_ENST00000282493.3_Missense_Mutation_p.P735L	p.P735L			O15018	PDZD2_HUMAN			13	2592	+			735			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2204C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434453	0.83776	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.17528	2.27;2.27	5.69	5.69	0.88448	PDZ/DHR/GLGF (3);	0.000000	0.44688	D	0.000421	T	0.43986	0.1272	M	0.76574	2.34	0.80722	D	1	P;D	0.89917	0.884;1.0	P;D	0.75020	0.493;0.985	T	0.33059	-0.9883	10	0.87932	D	0	.	17.3087	0.87202	0.0:1.0:0.0:0.0	.	561;735	B4E3P2;O15018	.;PDZD2_HUMAN	L	735;554;735	ENSP00000402033:P735L;ENSP00000282493:P735L	ENSP00000282493:P735L	P	+	2	0	PDZD2	32095105	0.997000	0.39634	0.992000	0.48379	0.815000	0.46073	3.583000	0.53928	2.679000	0.91253	0.591000	0.81541	CCA		0.408	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			5	20	0	0	0	1	0	5	20				
ROCK1	6093	broad.mit.edu	37	18	18546946	18546946	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:18546946A>G	ENST00000399799.2	-	27	4224	c.3284T>C	c.(3283-3285)tTg>tCg	p.L1095S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1095					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CGAGAGGTCCAAAAGTTTAGC	0.398																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(3283-3285)tTg>tCg		Rho-associated, coiled-coil containing protein kinase 1							159.0	143.0	148.0					18																	18546946		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18546946A>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3284T>C	18.37:g.18546946A>G	ENSP00000382697:p.Leu1095Ser						p.L1095S	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			27	4224	-	Melanoma(1;0.165)		1095					B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3284T>C	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	A	7.741	0.701231	0.15172	.	.	ENSG00000067900	ENST00000399799	T	0.12984	2.63	5.62	1.83	0.25207	.	0.405681	0.25704	N	0.028843	T	0.04318	0.0119	N	0.04508	-0.205	0.28328	N	0.921902	B	0.09022	0.002	B	0.08055	0.003	T	0.40289	-0.9571	10	0.09590	T	0.72	.	4.4881	0.11799	0.6539:0.0:0.2121:0.1339	.	1095	Q13464	ROCK1_HUMAN	S	1095	ENSP00000382697:L1095S	ENSP00000382697:L1095S	L	-	2	0	ROCK1	16800944	1.000000	0.71417	0.970000	0.41538	0.990000	0.78478	3.044000	0.49830	0.369000	0.24510	0.482000	0.46254	TTG		0.398	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		9	109	0	0	0	1	0	9	109				
PVALB	5816	broad.mit.edu	37	22	37211239	37211239	+	Silent	SNP	G	G	A	rs377039488		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37211239G>A	ENST00000216200.5	-	3	157	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_ENST00000417718.2_Silent_p.V34V|PVALB_ENST00000404171.1_Silent_p.V2V|CITF22-24E5.1_ENST00000417792.1_RNA	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	34					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527																																						ENST00000216200.5																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(100-102)gtC>gtT		parvalbumin							136.0	110.0	119.0					22																	37211239		2203	4300	6503	SO:0001819	synonymous_variant	5816						calcium ion binding	g.chr22:37211239G>A		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.102C>T	22.37:g.37211239G>A						PVALB_ENST00000404171.1_Silent_p.V2V|PVALB_ENST00000417718.2_Silent_p.V34V	p.V34V	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN			3	157	-			34					B2R4H7|P78378|Q4VB78|Q5R3Q9	Silent	SNP	ENST00000216200.5	37	c.102C>T	CCDS13933.1	.	.	.	.	.	.	.	.	.	.	G	8.361	0.833151	0.16820	.	.	ENSG00000100362	ENST00000406910	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.47637	0.1456	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61352	-0.7080	4	.	.	.	-2.8992	9.4259	0.38578	0.3579:0.5088:0.0777:0.0556	.	.	.	.	L	33	.	.	S	-	2	0	PVALB	35541185	0.000000	0.05858	0.201000	0.23476	0.936000	0.57629	-2.127000	0.01315	-3.156000	0.00229	-0.291000	0.09656	TCG		0.527	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		17	46	0	0	0	1	0	17	46				
CADPS	8618	broad.mit.edu	37	3	62451122	62451122	+	Missense_Mutation	SNP	C	C	T	rs574220713		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62451122C>T	ENST00000383710.4	-	26	3905	c.3556G>A	c.(3556-3558)Gtt>Att	p.V1186I	CADPS_ENST00000357948.3_Missense_Mutation_p.V1107I|CADPS_ENST00000283269.9_Missense_Mutation_p.V1147I|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1186	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGATAGTAACGAACTAGAAA	0.353																																						ENST00000383710.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3556-3558)Gtt>Att		Ca++-dependent secretion activator							96.0	104.0	101.0					3																	62451122		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62451122C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3556G>A	3.37:g.62451122C>T	ENSP00000373215:p.Val1186Ile					CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Missense_Mutation_p.V1147I|CADPS_ENST00000357948.3_Missense_Mutation_p.V1107I	p.V1186I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	26	3905	-		Lung SC(41;0.0452)	1186			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3556G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.08|11.08	1.534597|1.534597	0.27475|0.27475	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.30981	.|1.51;1.51;1.51	5.98|5.98	4.21|4.21	0.49690|0.49690	.|.	.|0.183337	.|0.47455	.|N	.|0.000231	T|T	0.41511|0.41511	0.1162|0.1162	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|B;B;D;B	.|0.76494	.|0.083;0.006;0.999;0.147	.|B;B;D;B	.|0.71184	.|0.031;0.008;0.972;0.031	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.38643	.|T	.|0.18	.|.	12.4672|12.4672	0.55766|0.55766	0.0:0.8659:0.0:0.1341|0.0:0.8659:0.0:0.1341	.|.	.|1107;1147;1186;1191	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	H|I	97|1192;1186;1107;1147	.|ENSP00000373215:V1186I;ENSP00000350632:V1107I;ENSP00000283269:V1147I	.|ENSP00000283269:V1147I	R|V	-|-	2|1	0|0	CADPS|CADPS	62426162|62426162	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.970000|0.970000	0.65996|0.65996	4.697000|4.697000	0.61782|0.61782	0.879000|0.879000	0.35944|0.35944	-0.218000|-0.218000	0.12543|0.12543	CGT|GTT		0.353	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		32	77	0	0	0	1	0	32	77				
SPACA7	122258	broad.mit.edu	37	13	113053404	113053404	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113053404A>G	ENST00000283550.3	+	4	333	c.266A>G	c.(265-267)cAa>cGa	p.Q89R	SPACA7_ENST00000375699.3_Missense_Mutation_p.Q58R	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	89						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GAGAATTATCAAGCTGGTGGT	0.353																																						ENST00000375699.3																			0				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						c.(172-174)cAa>cGa		sperm acrosome associated 7							89.0	91.0	90.0					13																	113053404		2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113053404A>G	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.266A>G	13.37:g.113053404A>G	ENSP00000283550:p.Gln89Arg					SPACA7_ENST00000283550.3_Missense_Mutation_p.Q89R	p.Q58R			Q96KW9	SPAC7_HUMAN			3	345	+			89					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.173A>G	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	A	8.066	0.769168	0.15983	.	.	ENSG00000153498	ENST00000283550;ENST00000414180;ENST00000443541;ENST00000375699	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.12	1.9	0.25705	.	.	.	.	.	T	0.46964	0.1420	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.58130	0.833	T	0.27365	-1.0076	9	0.87932	D	0	-4.837	6.3308	0.21269	0.7437:0.2563:0.0:0.0	.	89	Q96KW9	SPAC7_HUMAN	R	89;77;75;58	ENSP00000283550:Q89R;ENSP00000416096:Q77R;ENSP00000406733:Q75R;ENSP00000364851:Q58R	ENSP00000283550:Q89R	Q	+	2	0	SPACA7	112101405	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.457000	0.21875	0.570000	0.29347	0.528000	0.53228	CAA		0.353	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		4	28	0	0	0	1	0	4	28				
NRG3	10718	broad.mit.edu	37	10	83635352	83635352	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:83635352C>T	ENST00000404547.1	+	1	256	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.L86F|NRG3_ENST00000372142.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	86					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTCATGCTTCTCAAATGGAT	0.612																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(256-258)Ctc>Ttc		neuregulin 3							79.0	64.0	69.0					10																	83635352		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635352C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.256C>T	10.37:g.83635352C>T	ENSP00000384796:p.Leu86Phe					NRG3_ENST00000372141.2_Missense_Mutation_p.L86F	p.L86F			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	256	+			86					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.256C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.328387	0.60743	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.65364	-0.15;-0.02	2.75	2.75	0.32379	.	.	.	.	.	T	0.63570	0.2522	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.64529	-0.6386	9	0.87932	D	0	-10.1184	5.7409	0.18094	0.0:0.846:0.0:0.154	.	86;86	B9EGV5;P56975-4	.;.	F	86	ENSP00000361214:L86F;ENSP00000384796:L86F	ENSP00000361214:L86F	L	+	1	0	NRG3	83625332	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.696000	0.61774	1.560000	0.49568	0.459000	0.35465	CTC		0.612	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		17	42	0	0	0	1	0	17	42				
PARP4	143	broad.mit.edu	37	13	25029157	25029157	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:25029157G>A	ENST00000381989.3	-	22	2861	c.2756C>T	c.(2755-2757)aCa>aTa	p.T919I	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	919	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCACTCACCTGTGCCGAACTG	0.532																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2755-2757)aCa>aTa		poly (ADP-ribose) polymerase family, member 4							215.0	184.0	195.0					13																	25029157		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25029157G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2756C>T	13.37:g.25029157G>A	ENSP00000371419:p.Thr919Ile						p.T919I	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	22	2861	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	919			VWFA.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.2756C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329946	0.81690	.	.	ENSG00000102699	ENST00000381989	T	0.24538	1.85	4.72	4.72	0.59763	von Willebrand factor, type A (3);	0.109382	0.64402	D	0.000008	T	0.52693	0.1750	M	0.83692	2.655	0.49798	D	0.999826	D	0.63046	0.992	D	0.65443	0.935	T	0.59925	-0.7362	10	0.87932	D	0	-3.8998	15.2852	0.73822	0.0:0.0:1.0:0.0	.	919	Q9UKK3	PARP4_HUMAN	I	919	ENSP00000371419:T919I	ENSP00000371419:T919I	T	-	2	0	PARP4	23927157	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.364000	0.79526	2.481000	0.83766	0.573000	0.79308	ACA		0.532	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		44	97	0	0	0	1	0	44	97				
SPECC1L	23384	broad.mit.edu	37	22	24807598	24807598	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24807598C>T	ENST00000314328.9	+	15	3415	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Silent_p.L1044L|SPECC1L_ENST00000541492.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1044	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAATGATGGGCTGGCCTTCTG	0.493																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(3130-3132)Ctg>Ttg		sperm antigen with calponin homology and coiled-coil domains 1-like							134.0	118.0	123.0					22																	24807598		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24807598C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3130C>T	22.37:g.24807598C>T						KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Intron|SPECC1L_ENST00000437398.1_Silent_p.L1044L	p.L1044L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			15	3415	+			1044			CH.		B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.3130C>T	CCDS33619.1																																																																																				0.493	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		13	114	0	0	0	1	0	13	114				
SIPA1L3	23094	broad.mit.edu	37	19	38597179	38597179	+	Missense_Mutation	SNP	G	G	A	rs368555030		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38597179G>A	ENST00000222345.6	+	7	2541	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	678	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTTCAGCCGACTCCACGGG	0.507																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2032-2034)Gac>Aac		signal-induced proliferation-associated 1 like 3		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	161.0	134.0	143.0		2032	5.2	1.0	19		143	0,8600		0,0,4300	no	missense	SIPA1L3	NM_015073.1	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	678/1782	38597179	1,13005	2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38597179G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2032G>A	19.37:g.38597179G>A	ENSP00000222345:p.Asp678Asn						p.D678N	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		7	2541	+			678			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2032G>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935176	0.92458	2.27E-4	0.0	ENSG00000105738	ENST00000222345	D	0.93712	-3.27	5.15	5.15	0.70609	Rap/ran-GAP (2);	0.049241	0.85682	D	0.000000	D	0.91751	0.7391	L	0.49513	1.565	0.58432	D	0.999999	B	0.15141	0.012	B	0.21708	0.036	D	0.88806	0.3288	10	0.87932	D	0	-45.9503	17.552	0.87879	0.0:0.0:1.0:0.0	.	678	O60292	SI1L3_HUMAN	N	678	ENSP00000222345:D678N	ENSP00000222345:D678N	D	+	1	0	SIPA1L3	43289019	1.000000	0.71417	0.970000	0.41538	0.666000	0.39218	9.636000	0.98440	2.692000	0.91855	0.655000	0.94253	GAC		0.507	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	87	0	0	0	1	0	26	87				
UGT2A3	79799	broad.mit.edu	37	4	69795695	69795695	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:69795695G>T	ENST00000251566.4	-	6	1450	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L185M	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	474					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGATCGCAGGTGCTTGGCT	0.488																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1420-1422)Ctg>Atg		UDP glucuronosyltransferase 2 family, polypeptide A3							88.0	88.0	88.0					4																	69795695		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795695G>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1420C>A	4.37:g.69795695G>T	ENSP00000251566:p.Leu474Met					UGT2A3_ENST00000420231.2_Missense_Mutation_p.L185M	p.L474M	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			6	1450	-			474					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1420C>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058539	0.36277	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.69435	-0.4;2.31	2.22	2.22	0.28083	.	0.000000	0.64402	D	0.000004	T	0.81588	0.4854	M	0.88704	2.975	0.38622	D	0.951151	D	0.89917	1.0	D	0.81914	0.995	D	0.84857	0.0817	10	0.87932	D	0	.	10.0537	0.42233	0.0:0.0:1.0:0.0	.	474	Q6UWM9	UD2A3_HUMAN	M	474;185	ENSP00000251566:L474M;ENSP00000440115:L185M	ENSP00000251566:L474M	L	-	1	2	UGT2A3	69830284	1.000000	0.71417	0.866000	0.34008	0.064000	0.16182	1.158000	0.31737	1.248000	0.43934	0.491000	0.48974	CTG		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		41	91	1	0	4.67007e-22	1	4.9106e-22	41	91				
FAM118A	55007	broad.mit.edu	37	22	45740517	45740517	+	IGR	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:45740517G>A	ENST00000216214.3	+	0	3458				SMC1B_ENST00000357450.4_Nonsense_Mutation_p.R1210*|SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R1136*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCAAAACTCGGCTGAACATG	0.448																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3628-3630)Cga>Tga		structural maintenance of chromosomes 1B							120.0	121.0	121.0					22																	45740517		1921	4132	6053	SO:0001628	intergenic_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45740517G>A	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338		22.37:g.45740517G>A						SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R1136*	p.R1210*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	25	3627	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1210					B3KWG4|B4DY02|Q5TII5|Q96CY3	Nonsense_Mutation	SNP	ENST00000216214.3	37	c.3628C>T	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	G	39	7.418242	0.98272	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	.	.	.	5.37	2.01	0.26516	.	0.480096	0.17742	N	0.163532	.	.	.	.	.	.	0.49213	D	0.999765	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.1149	0.59295	0.0:0.0:0.5551:0.4449	.	.	.	.	X	1210;1136	.	ENSP00000350036:R1210X	R	-	1	2	SMC1B	44119181	0.242000	0.23868	0.374000	0.26016	0.890000	0.51754	0.485000	0.22324	0.212000	0.20703	-0.309000	0.09137	CGA		0.448	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		51	104	0	0	0	1	0	51	104				
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(2644-2646)gCg>gTg		tight junction protein 2							109.0	104.0	106.0					9																	71861684		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71861684C>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2645C>T	9.37:g.71861684C>T	ENSP00000366453:p.Ala882Val					TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000535702.1_Missense_Mutation_p.A886V	p.A882V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			18	2853	+			882					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.2645C>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168643	0.78339	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.15	5.15	0.70609	.	0.060656	0.64402	D	0.000003	T	0.40222	0.1108	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;0.999;0.986;0.999;1.0	D;P;P;P;P;D	0.91635	0.997;0.861;0.891;0.469;0.891;0.999	T	0.02026	-1.1227	10	0.39692	T	0.17	.	19.1782	0.93612	0.0:1.0:0.0:0.0	.	913;886;859;882;882;882	F5H301;F5H886;B7Z2R3;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;.;ZO2_HUMAN;.	V	859;882;882;882;886;913	ENSP00000392178:A859V;ENSP00000366453:A882V;ENSP00000345893:A882V;ENSP00000265384:A882V;ENSP00000442090:A886V;ENSP00000438262:A913V	ENSP00000265384:A882V	A	+	2	0	TJP2	71051504	1.000000	0.71417	0.983000	0.44433	0.947000	0.59692	4.626000	0.61269	2.838000	0.97847	0.655000	0.94253	GCG		0.418	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		18	69	0	0	0	1	0	18	69				
KDR	3791	broad.mit.edu	37	4	55984794	55984794	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55984794G>A	ENST00000263923.4	-	3	630	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	112					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATGACCGAGGCCAAGTC	0.418			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(334-336)tCg>tTg		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						102.0	93.0	96.0					4																	55984794		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55984794G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.335C>T	4.37:g.55984794G>A	ENSP00000263923:p.Ser112Leu	TSP Lung(20;0.16)					p.S112L	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		3	630	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		112					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.335C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147530	0.37923	.	.	ENSG00000128052	ENST00000263923	T	0.34072	1.38	5.48	5.48	0.80851	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.362046	0.29080	N	0.013209	T	0.40473	0.1118	M	0.74881	2.28	0.09310	N	0.999999	P;B	0.45594	0.862;0.242	B;B	0.34652	0.187;0.054	T	0.51756	-0.8665	10	0.66056	D	0.02	.	19.3387	0.94332	0.0:0.0:1.0:0.0	.	112;112	P35968-2;P35968	.;VGFR2_HUMAN	L	112	ENSP00000263923:S112L	ENSP00000263923:S112L	S	-	2	0	KDR	55679551	0.982000	0.34865	0.006000	0.13384	0.438000	0.31896	6.415000	0.73328	2.588000	0.87417	0.655000	0.94253	TCG		0.418	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			8	59	0	0	0	1	0	8	59				
SALL4	57167	broad.mit.edu	37	20	50408260	50408260	+	Silent	SNP	G	G	A	rs141546409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50408260G>A	ENST00000217086.4	-	2	873	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Silent_p.A254A|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	254					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGAGTGTCGGCCCCTGCCC	0.602													G|||	8	0.00159744	0.0053	0.0	5008	,	,		18100	0.0		0.0	False		,,,				2504	0.001					ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(760-762)gcC>gcT		spalt-like transcription factor 4		G		9,4397		0,9,2194	31.0	31.0	31.0		762	-4.7	0.0	20	dbSNP_134	31	0,8600		0,0,4300	no	coding-synonymous	SALL4	NM_020436.3		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		254/1054	50408260	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408260G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.762C>T	20.37:g.50408260G>A						SALL4_ENST00000395997.3_Silent_p.A254A|SALL4_ENST00000371539.3_Intron	p.A254A	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	873	-			254					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.762C>T	CCDS13438.1																																																																																				0.602	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			19	48	0	0	0	1	0	19	48				
TRIM29	23650	broad.mit.edu	37	11	120008242	120008242	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:120008242G>A	ENST00000341846.5	-	1	919	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	166					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTCGGAGCCGGACTTGGACC	0.657																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(496-498)tcC>tcT		tripartite motif containing 29							37.0	47.0	43.0					11																	120008242		2202	4300	6502	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008242G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.498C>T	11.37:g.120008242G>A							p.S166S	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	919	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	166					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.498C>T	CCDS8428.1																																																																																				0.657	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		5	125	0	0	0	1	0	5	125				
PROX1	5629	broad.mit.edu	37	1	214170044	214170044	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214170044T>C	ENST00000366958.4	+	2	774	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	PROX1_ENST00000498508.2_Missense_Mutation_p.Y56H|PROX1_ENST00000261454.4_Missense_Mutation_p.Y56H|PROX1_ENST00000435016.1_Missense_Mutation_p.Y56H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	56					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGATGTTGAGTATTCAGTGGT	0.478																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(166-168)Tat>Cat		prospero homeobox 1							109.0	101.0	104.0					1																	214170044		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214170044T>C	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.166T>C	1.37:g.214170044T>C	ENSP00000355925:p.Tyr56His					PROX1_ENST00000498508.2_Missense_Mutation_p.Y56H|PROX1_ENST00000261454.4_Missense_Mutation_p.Y56H|PROX1_ENST00000435016.1_Missense_Mutation_p.Y56H	p.Y56H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	774	+			56					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.166T>C	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781232	0.49891	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.77	5.77	0.91146	.	0.050834	0.85682	D	0.000000	T	0.37865	0.1019	N	0.08118	0	0.51482	D	0.999921	D	0.53885	0.963	P	0.55222	0.771	T	0.30822	-0.9965	10	0.26408	T	0.33	-3.3396	16.3948	0.83586	0.0:0.0:0.0:1.0	.	56	Q92786	PROX1_HUMAN	H	56	ENSP00000420283:Y56H;ENSP00000355925:Y56H;ENSP00000400694:Y56H;ENSP00000261454:Y56H	ENSP00000261454:Y56H	Y	+	1	0	PROX1	212236667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.914000	0.69964	2.326000	0.78906	0.533000	0.62120	TAT		0.478	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		6	85	0	0	0	1	0	6	85				
OR2M3	127062	broad.mit.edu	37	1	248366442	248366442	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:248366442A>G	ENST00000456743.1	+	1	111	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCACCCACACCTTCCTCTT	0.512																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(73-75)Acc>Gcc		olfactory receptor, family 2, subfamily M, member 3							205.0	211.0	209.0					1																	248366442		2203	4298	6501	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366442A>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.73A>G	1.37:g.248366442A>G	ENSP00000389625:p.Thr25Ala						p.T25A	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	111	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		25					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.73A>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	8.397	0.841158	0.16891	.	.	ENSG00000228198	ENST00000456743	T	0.00012	9.3	2.61	1.37	0.22104	.	1.099150	0.07334	U	0.879684	T	0.00073	0.0002	N	0.10685	0.025	0.09310	N	1	B	0.19706	0.038	B	0.26614	0.071	T	0.00844	-1.1543	10	0.13108	T	0.6	.	3.7425	0.08536	0.3523:0.4205:0.2272:0.0	.	25	Q8NG83	OR2M3_HUMAN	A	25	ENSP00000389625:T25A	ENSP00000389625:T25A	T	+	1	0	OR2M3	246433065	0.000000	0.05858	0.001000	0.08648	0.702000	0.40608	-1.548000	0.02184	0.212000	0.20703	0.327000	0.21459	ACC		0.512	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		104	246	0	0	0	1	0	104	246				
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(382-384)Gtc>Atc		transmembrane protein 171							125.0	128.0	127.0					5																	72419582		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419582G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.382G>A	5.37:g.72419582G>A	ENSP00000415030:p.Val128Ile					TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I	p.V128I			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	855	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	128					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.382G>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495841	0.12762	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.20598	2.06;2.06	5.34	-0.15	0.13416	.	0.544274	0.17336	N	0.177912	T	0.08980	0.0222	N	0.08118	0	0.26141	N	0.980273	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.37663	-0.9696	10	0.12766	T	0.61	-2.5931	11.1458	0.48430	0.381:0.0:0.619:0.0	.	128;128	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	I	128	ENSP00000415030:V128I;ENSP00000287773:V128I	ENSP00000287773:V128I	V	+	1	0	TMEM171	72455338	0.001000	0.12720	0.681000	0.30009	0.911000	0.54048	-0.538000	0.06120	-0.008000	0.14320	0.455000	0.32223	GTC		0.587	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		6	162	0	0	0	1	0	6	162				
DEPDC5	9681	broad.mit.edu	37	22	32234677	32234677	+	Silent	SNP	C	C	T	rs371165640		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32234677C>T	ENST00000382112.3	+	26	2404	c.2334C>T	c.(2332-2334)gaC>gaT	p.D778D	RNU6-201P_ENST00000517100.1_RNA|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000400246.1_Silent_p.D787D|DEPDC5_ENST00000400249.2_Silent_p.D778D|DEPDC5_ENST00000382105.2_Silent_p.D709D|DEPDC5_ENST00000400248.2_Silent_p.D778D|DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000535622.1_Silent_p.D709D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	787					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.D778D(1)|p.D709D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGGAGGGACGAAGATGGTG	0.483																																						ENST00000400246.1																			2	Substitution - coding silent(2)	p.D778D(1)|p.D709D(1)	lung(2)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(2359-2361)gaC>gaT		DEP domain containing 5		C	,,,	0,4082		0,0,2041	113.0	117.0	116.0		2334,2361,2127,2334	-6.7	0.3	22		116	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,2,6234	TT,TC,CC		0.0238,0.0,0.016	,,,	778/1595,787/1604,709/1504,778/1573	32234677	2,12470	2041	4195	6236	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32234677C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2334C>T	22.37:g.32234677C>T						DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000400248.1_Silent_p.D778D|DEPDC5_ENST00000400249.2_Silent_p.D778D|DEPDC5_ENST00000382105.2_Silent_p.D709D|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000382112.3_Silent_p.D778D|DEPDC5_ENST00000535622.1_Silent_p.D709D	p.D787D			O75140	DEPD5_HUMAN			27	2503	+			778					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.2361C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	0.727	-0.781441	0.02929	0.0	2.38E-4	ENSG00000100150	ENST00000433147	.	.	.	5.55	-6.73	0.01749	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8609	0.35256	0.099:0.4339:0.0:0.4671	.	.	.	.	X	185	.	.	R	+	1	2	DEPDC5	30564677	0.001000	0.12720	0.318000	0.25279	0.101000	0.19017	-1.936000	0.01549	-1.953000	0.01026	-1.105000	0.02106	CGA		0.483	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		34	81	0	0	0	1	0	34	81				
MACF1	23499	broad.mit.edu	37	1	39788607	39788607	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39788607C>T	ENST00000372915.3	+	32	4265	c.4178C>T	c.(4177-4179)aCg>aTg	p.T1393M	MACF1_ENST00000539005.1_Missense_Mutation_p.T1393M|MACF1_ENST00000564288.1_Missense_Mutation_p.T1388M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.T1393M|MACF1_ENST00000545844.1_Missense_Mutation_p.T1393M|MACF1_ENST00000567887.1_Missense_Mutation_p.T1425M|MACF1_ENST00000317713.7_Missense_Mutation_p.T1393M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1393					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCGCTACACGGCATTGGTG	0.418																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4162-4164)aCg>aTg		microtubule-actin crosslinking factor 1							158.0	157.0	158.0					1																	39788607		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39788607C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4178C>T	1.37:g.39788607C>T	ENSP00000362006:p.Thr1393Met					MACF1_ENST00000545844.1_Missense_Mutation_p.T1393M|MACF1_ENST00000361689.2_Missense_Mutation_p.T1393M|MACF1_ENST00000567887.1_Missense_Mutation_p.T1425M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.T1393M|MACF1_ENST00000372915.3_Missense_Mutation_p.T1393M|MACF1_ENST00000317713.7_Missense_Mutation_p.T1393M	p.T1388M			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		33	4940	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1393					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.4163C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.273662	0.95459	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.99	5.99	0.97316	.	.	.	.	.	T	0.62841	0.2461	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;P;D	0.79784	0.993;0.872;0.924	T	0.61642	-0.7021	9	0.62326	D	0.03	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1393;1393;1358	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	M	1393;1393;1393;1393;1393;1351;1542	ENSP00000439537:T1393M;ENSP00000362006:T1393M;ENSP00000354573:T1393M;ENSP00000313438:T1393M;ENSP00000444364:T1393M;ENSP00000435070:T1351M;ENSP00000437059:T1542M	ENSP00000313438:T1393M	T	+	2	0	MACF1	39561194	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.747000	0.85070	2.840000	0.97914	0.655000	0.94253	ACG		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	226	0	0	0	1	0	9	226				
CD7	924	broad.mit.edu	37	17	80274164	80274164	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80274164C>T	ENST00000312648.3	-	3	625	c.519G>A	c.(517-519)ccG>ccA	p.P173P	CD7_ENST00000584284.1_Silent_p.P173P|CD7_ENST00000578509.1_Silent_p.P73P|CD7_ENST00000583376.1_Silent_p.P73P	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	173	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGGCTGCTGGCGGGTCAGGGA	0.716																																					Pancreas(45;804 1068 19702 28207 28798)	ENST00000584284.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(517-519)ccG>ccA		CD7 molecule							11.0	14.0	13.0					17																	80274164		2165	4243	6408	SO:0001819	synonymous_variant	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274164C>T	X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.519G>A	17.37:g.80274164C>T						CD7_ENST00000583376.1_Silent_p.P73P|CD7_ENST00000578509.1_Silent_p.P73P|CD7_ENST00000312648.3_Silent_p.P173P	p.P173P			P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		3	600	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		173			4 X 9 AA tandem repeats, potential spacer function.			Silent	SNP	ENST00000312648.3	37	c.519G>A	CCDS11807.1																																																																																				0.716	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		3	9	0	0	0	1	0	3	9				
ADH6	130	broad.mit.edu	37	4	100134802	100134802	+	Missense_Mutation	SNP	C	C	T	rs201537738		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:100134802C>T	ENST00000237653.7	-	3	607	c.223G>A	c.(223-225)Gtt>Att	p.V75I	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.V75I|ADH6_ENST00000394897.1_Missense_Mutation_p.V75I|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	75					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATACTCTCAACGATTCCAGCC	0.478																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(223-225)Gtt>Att		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)	C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	155.0	131.0	139.0		223,223	3.9	0.0	4		139	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ADH6	NM_000672.3,NM_001102470.1	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	75/369,75/376	100134802	2,13004	2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100134802C>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.223G>A	4.37:g.100134802C>T	ENSP00000237653:p.Val75Ile					ADH6_ENST00000237653.7_Missense_Mutation_p.V75I|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.V75I	p.V75I			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	3	305	-			75					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.223G>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286023	0.40394	0.0	2.33E-4	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	4.75	3.9	0.45041	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.124054	0.53938	N	0.000042	T	0.18383	0.0441	M	0.67517	2.055	0.80722	D	1	P;P;P	0.37015	0.512;0.578;0.523	P;B;B	0.49012	0.598;0.204;0.341	T	0.00589	-1.1656	10	0.66056	D	0.02	-14.8493	10.3225	0.43775	0.0:0.8332:0.0:0.1668	.	75;75;75	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	I	75	ENSP00000378358:V75I;ENSP00000378359:V75I;ENSP00000237653:V75I;ENSP00000426187:V75I	ENSP00000237653:V75I	V	-	1	0	ADH6	100353825	0.994000	0.37717	0.003000	0.11579	0.090000	0.18270	3.251000	0.51453	0.991000	0.38814	0.467000	0.42956	GTT		0.478	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		22	66	0	0	0	1	0	22	66				
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R85S(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(253-255)Cgc>Tgc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						192.0	211.0	204.0					15																	58306166		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306166G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.253C>T	15.37:g.58306166G>A	ENSP00000249750:p.Arg85Cys					ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C	p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1020	-			85					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.253C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824484	0.50739	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78126	-1.15;2.15;-1.15	4.69	3.77	0.43336	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.954;0.99;0.995	D	0.92736	0.6204	10	0.87932	D	0	.	12.2655	0.54676	0.0:0.0:0.6916:0.3084	.	56;64;85;85	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	C	85;56;85;64	ENSP00000249750:R85C;ENSP00000309623:R85C;ENSP00000438296:R64C	ENSP00000249750:R85C	R	-	1	0	ALDH1A2	56093458	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.298000	0.78815	1.180000	0.42898	-0.169000	0.13324	CGC		0.498	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			86	227	0	0	0	1	0	86	227				
MIEF2	125170	broad.mit.edu	37	17	18167396	18167396	+	Missense_Mutation	SNP	C	C	T	rs199876054	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18167396C>T	ENST00000323019.4	+	4	894	c.683C>T	c.(682-684)aCg>aTg	p.T228M	MIEF2_ENST00000577216.1_3'UTR|MIEF2_ENST00000395704.4_Silent_p.D203D|MIEF2_ENST00000395706.2_Missense_Mutation_p.T239M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	228					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GTGCGCAGGACGCAGCTTGAG	0.716													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15214	0.0		0.0	False		,,,				2504	0.0					ENST00000323019.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(682-684)aCg>aTg									8.0	8.0	8.0					17																	18167396		2147	4216	6363	SO:0001583	missense	0					integral to membrane	protein binding	g.chr17:18167396C>T	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.683C>T	17.37:g.18167396C>T	ENSP00000323591:p.Thr228Met					SMCR7_ENST00000395704.4_Silent_p.D203D|SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.T239M	p.T228M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	894	+	all_neural(463;0.228)		228					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.683C>T	CCDS11193.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.75	2.924792	0.52759	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.12361	2.69;2.69	5.32	5.32	0.75619	.	0.310296	0.35615	N	0.003087	T	0.33789	0.0875	.	.	.	0.38512	D	0.948494	D	0.89917	1.0	D	0.63283	0.913	T	0.12268	-1.0554	9	0.59425	D	0.04	-27.2907	14.2475	0.65997	0.0:0.9263:0.0:0.0737	.	228	Q96C03	MID49_HUMAN	M	228;239	ENSP00000323591:T228M;ENSP00000379057:T239M	ENSP00000323591:T228M	T	+	2	0	SMCR7	18108121	0.941000	0.31946	1.000000	0.80357	0.543000	0.35085	1.767000	0.38501	2.484000	0.83849	0.563000	0.77884	ACG		0.716	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		4	6	0	0	0	1	0	4	6				
H6PD	9563	broad.mit.edu	37	1	9324290	9324290	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:9324290C>T	ENST00000377403.2	+	5	2040	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	H6PD_ENST00000602477.1_Missense_Mutation_p.R591W	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	580	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCGAGCCGTGCGGCGCTTTGG	0.677																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1738-1740)Cgg>Tgg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						13.0	14.0	14.0					1																	9324290		2197	4289	6486	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9324290C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1738C>T	1.37:g.9324290C>T	ENSP00000366620:p.Arg580Trp					H6PD_ENST00000602477.1_Missense_Mutation_p.R591W	p.R580W	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	2040	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	580			6-phosphogluconolactonase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1738C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259375	0.39995	.	.	ENSG00000049239	ENST00000377403	T	0.45276	0.9	5.67	1.02	0.19986	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.441071	0.25613	N	0.029472	T	0.55625	0.1932	M	0.83774	2.66	0.39951	D	0.974532	D	0.71674	0.998	P	0.54210	0.745	T	0.64816	-0.6318	10	0.87932	D	0	-33.9396	11.4565	0.50185	0.4103:0.4861:0.1035:0.0	.	580	O95479	G6PE_HUMAN	W	580	ENSP00000366620:R580W	ENSP00000366620:R580W	R	+	1	2	H6PD	9246877	0.005000	0.15991	0.772000	0.31596	0.146000	0.21551	0.120000	0.15647	0.296000	0.22592	0.561000	0.74099	CGG		0.677	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		11	23	0	0	0	1	0	11	23				
ACE	1636	broad.mit.edu	37	17	61557710	61557710	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61557710C>T	ENST00000290866.4	+	5	692	c.668C>T	c.(667-669)aCg>aTg	p.T223M	ACE_ENST00000428043.1_Missense_Mutation_p.T223M|ACE_ENST00000538928.1_Missense_Mutation_p.T223M|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	223	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTCACAGACACGGGGGCCTAC	0.612																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(667-669)aCg>aTg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						80.0	73.0	76.0					17																	61557710		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61557710C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.668C>T	17.37:g.61557710C>T	ENSP00000290866:p.Thr223Met					ACE_ENST00000428043.1_Missense_Mutation_p.T223M|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.T223M	p.T223M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			5	692	+			223			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.668C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360846	0.61403	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.33865	1.39;1.39;1.39	3.96	3.96	0.45880	.	0.055921	0.64402	D	0.000001	T	0.53594	0.1806	L	0.59912	1.85	0.80722	D	1	D;D;P	0.89917	1.0;0.999;0.948	D;P;B	0.67231	0.95;0.882;0.351	T	0.52593	-0.8555	10	0.33940	T	0.23	-12.2896	16.2253	0.82286	0.0:1.0:0.0:0.0	.	223;223;223	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	223	ENSP00000439591:T223M;ENSP00000290866:T223M;ENSP00000397593:T223M	ENSP00000290866:T223M	T	+	2	0	ACE	58911442	1.000000	0.71417	0.954000	0.39281	0.471000	0.32888	7.608000	0.82898	2.043000	0.60533	0.511000	0.50034	ACG		0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			19	44	0	0	0	1	0	19	44				
CCER1	196477	broad.mit.edu	37	12	91348186	91348186	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:91348186A>G	ENST00000358859.2	-	1	767	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	112																	TGCAGGCCATACACCCGAAAC	0.662																																						ENST00000358859.2																			0											c.(334-336)Tat>Cat		coiled-coil glutamate-rich protein 1							25.0	30.0	28.0					12																	91348186		2202	4300	6502	SO:0001583	missense	196477							g.chr12:91348186A>G	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.334T>C	12.37:g.91348186A>G	ENSP00000351727:p.Tyr112His					CCER1_ENST00000548187.1_Intron	p.Y112H	NM_152638.2	NP_689851.1					1	767	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.334T>C	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195265	0.38806	.	.	ENSG00000197651	ENST00000358859	T	0.49139	0.79	4.62	3.48	0.39840	.	0.274127	0.19640	N	0.109464	T	0.32376	0.0827	L	0.27053	0.805	0.27567	N	0.950005	B	0.32800	0.385	B	0.33295	0.161	T	0.26815	-1.0092	10	0.87932	D	0	-6.6868	6.5948	0.22666	0.8929:0.0:0.1071:0.0	.	112	Q8TC90	CL012_HUMAN	H	112	ENSP00000351727:Y112H	ENSP00000351727:Y112H	Y	-	1	0	C12orf12	89872317	0.370000	0.25047	0.577000	0.28562	0.272000	0.26649	2.516000	0.45520	0.802000	0.34089	0.379000	0.24179	TAT		0.662	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		14	40	0	0	0	1	0	14	40				
HTR4	3360	broad.mit.edu	37	5	147889133	147889133	+	Missense_Mutation	SNP	C	C	T	rs199912477		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:147889133C>T	ENST00000377888.3	-	6	1100	c.962G>A	c.(961-963)cGt>cAt	p.R321H	HTR4_ENST00000521530.1_Missense_Mutation_p.R321H|HTR4_ENST00000314512.6_Missense_Mutation_p.R321H|HTR4_ENST00000517929.1_Missense_Mutation_p.R321H|HTR4_ENST00000354217.2_Missense_Mutation_p.R321H|HTR4_ENST00000362016.2_Missense_Mutation_p.R335H|HTR4_ENST00000360693.3_Missense_Mutation_p.R321H|HTR4_ENST00000520514.1_Missense_Mutation_p.R321H|HTR4_ENST00000521735.1_Missense_Mutation_p.R321H	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	321					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GAGGAAGGCACGTCTAAAAGA	0.502																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(961-963)cGt>cAt		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						109.0	100.0	103.0					5																	147889133		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889133C>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.962G>A	5.37:g.147889133C>T	ENSP00000367120:p.Arg321His					HTR4_ENST00000314512.6_Missense_Mutation_p.R321H|HTR4_ENST00000362016.2_Missense_Mutation_p.R335H|HTR4_ENST00000521530.1_Missense_Mutation_p.R321H|HTR4_ENST00000521735.1_Missense_Mutation_p.R321H|HTR4_ENST00000354217.2_Missense_Mutation_p.R321H|HTR4_ENST00000517929.1_Missense_Mutation_p.R321H|HTR4_ENST00000520514.1_Missense_Mutation_p.R321H|HTR4_ENST00000377888.3_Missense_Mutation_p.R321H	p.R321H	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1100	-			321					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.962G>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816285	0.50527	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.92	4.14	0.48551	.	0.087749	0.85682	D	0.000000	T	0.55097	0.1899	M	0.66939	2.045	0.53005	D	0.999966	D;D;D;D;D;D;D	0.71674	0.995;0.995;0.991;0.995;0.998;0.997;0.997	P;P;P;P;P;P;P	0.58331	0.629;0.629;0.691;0.837;0.795;0.795;0.629	T	0.57452	-0.7809	10	0.87932	D	0	.	10.3718	0.44058	0.1343:0.7954:0.0:0.0703	.	321;321;321;335;321;321;321	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	H	321;321;321;321;321;321;321;321;335	ENSP00000428320:R321H;ENSP00000346156:R321H;ENSP00000314906:R321H;ENSP00000430979:R321H;ENSP00000435904:R321H;ENSP00000427913:R321H;ENSP00000367120:R321H;ENSP00000353915:R321H;ENSP00000355037:R335H	ENSP00000314906:R321H	R	-	2	0	HTR4	147869326	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	6.087000	0.71362	0.834000	0.34852	-0.182000	0.12963	CGT		0.502	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		20	54	0	0	0	1	0	20	54				
PAQR7	164091	broad.mit.edu	37	1	26189723	26189723	+	Missense_Mutation	SNP	C	C	T	rs182757920		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26189723C>T	ENST00000374296.3	-	2	1274	c.608G>A	c.(607-609)cGc>cAc	p.R203H	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	203					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCATGTGCGGCCCAGCAG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21958	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(607-609)cGc>cAc		progestin and adipoQ receptor family member VII							80.0	71.0	74.0					1																	26189723		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189723C>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.608G>A	1.37:g.26189723C>T	ENSP00000363414:p.Arg203His					RP1-125I3.2_ENST00000455431.1_RNA	p.R203H	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1274	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	203					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.608G>A	CCDS267.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.30	3.801692	0.70682	.	.	ENSG00000182749	ENST00000374296	T	0.36878	1.23	5.14	5.14	0.70334	.	0.065499	0.64402	D	0.000009	T	0.52322	0.1727	L	0.55481	1.735	0.38560	D	0.94968	D	0.89917	1.0	D	0.73380	0.98	T	0.56721	-0.7932	10	0.87932	D	0	-29.2732	11.0266	0.47748	0.0:0.9143:0.0:0.0857	.	203	Q86WK9	MPRA_HUMAN	H	203	ENSP00000363414:R203H	ENSP00000363414:R203H	R	-	2	0	PAQR7	26062310	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	0.815000	0.27253	2.666000	0.90696	0.655000	0.94253	CGC		0.582	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		27	58	0	0	0	1	0	27	58				
SORBS3	10174	broad.mit.edu	37	8	22415670	22415670	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22415670G>A	ENST00000240123.7	+	5	826	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	SORBS3_ENST00000523402.1_Missense_Mutation_p.R148Q	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	148	SoHo. {ECO:0000255|PROSITE- ProRule:PRU00195}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACTGGTACCGGAGAATGTTC	0.517																																						ENST00000240123.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18						c.(442-444)cGg>cAg		sorbin and SH3 domain containing 3							114.0	115.0	114.0					8																	22415670		2203	4300	6503	SO:0001583	missense	10174				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	g.chr8:22415670G>A		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.443G>A	8.37:g.22415670G>A	ENSP00000240123:p.Arg148Gln					SORBS3_ENST00000523402.1_Missense_Mutation_p.R148Q	p.R148Q	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	5	826	+		Prostate(55;0.0421)|Breast(100;0.102)	148			SoHo.		Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	c.443G>A	CCDS6031.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584254	0.86748	.	.	ENSG00000120896	ENST00000240123;ENST00000523402	T	0.09630	2.96	5.02	5.02	0.67125	Sorbin-like (3);	0.000000	0.42548	D	0.000681	T	0.26304	0.0642	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00553	-1.1674	10	0.72032	D	0.01	-26.2719	15.6062	0.76672	0.0:0.0:1.0:0.0	.	148	O60504	VINEX_HUMAN	Q	148	ENSP00000240123:R148Q	ENSP00000240123:R148Q	R	+	2	0	SORBS3	22471615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.259000	0.58828	2.478000	0.83669	0.561000	0.74099	CGG		0.517	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775		26	80	0	0	0	1	0	26	80				
FILIP1L	11259	broad.mit.edu	37	3	99569644	99569644	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99569644C>A	ENST00000354552.3	-	5	1346	c.876G>T	c.(874-876)gaG>gaT	p.E292D	FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E52D|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E292D|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E52D	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	292						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCAGTTCCTTCTCTAGTCTGG	0.463																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(874-876)gaG>gaT		filamin A interacting protein 1-like							299.0	290.0	293.0					3																	99569644		1981	4156	6137	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569644C>A		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.876G>T	3.37:g.99569644C>A	ENSP00000346560:p.Glu292Asp					FILIP1L_ENST00000354552.3_Missense_Mutation_p.E292D|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E52D|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E52D	p.E292D	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1346	-			292					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.876G>T	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274515	0.59649	.	.	ENSG00000168386	ENST00000354552;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T	0.46063	0.88;0.9;0.89;0.9;0.94	5.74	1.32	0.21799	.	0.116909	0.37715	N	0.001975	T	0.49864	0.1582	M	0.76328	2.33	0.36820	D	0.88633	P;P	0.44521	0.837;0.748	P;B	0.48982	0.597;0.393	T	0.59783	-0.7389	10	0.52906	T	0.07	-7.7607	11.3449	0.49554	0.0:0.6419:0.0:0.3581	.	292;292	Q4L180-2;Q4L180	.;FIL1L_HUMAN	D	292;52;292;52;52;52	ENSP00000346560:E292D;ENSP00000419642:E52D;ENSP00000327880:E292D;ENSP00000373192:E52D;ENSP00000419874:E52D	ENSP00000327880:E292D	E	-	3	2	FILIP1L	101052334	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	1.092000	0.30927	0.330000	0.23485	-0.140000	0.14226	GAG		0.463	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		98	265	1	0	1.77424e-55	1	1.87108e-55	98	265				
PITRM1	10531	broad.mit.edu	37	10	3189816	3189816	+	Missense_Mutation	SNP	C	C	T	rs201454628	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:3189816C>T	ENST00000224949.4	-	19	2217	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R286Q|PITRM1_ENST00000380989.2_Missense_Mutation_p.R729Q|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.R630Q			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	728					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGAGGGTCCGGCCTGCCCT	0.582													C|||	6	0.00119808	0.0045	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.0					ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2185-2187)cGg>cAg		pitrilysin metallopeptidase 1		C	GLN/ARG,GLN/ARG,GLN/ARG	9,3927		0,9,1959	100.0	110.0	107.0		2186,1889,2183	1.8	0.3	10		107	0,8330		0,0,4165	yes	missense,missense,missense	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	43,43,43	0,9,6124	TT,TC,CC		0.0,0.2287,0.0734	possibly-damaging,possibly-damaging,possibly-damaging	729/1039,630/940,728/1038	3189816	9,12257	1968	4165	6133	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189816C>T	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2183G>A	10.37:g.3189816C>T	ENSP00000224949:p.Arg728Gln					PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.R286Q|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.R630Q|PITRM1_ENST00000224949.4_Missense_Mutation_p.R728Q	p.R729Q	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			19	2224	-			630					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2186G>A	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851313	0.32699	0.002287	0.0	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.69	1.79	0.24919	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.330920	0.38837	N	0.001559	T	0.30759	0.0775	M	0.72894	2.215	0.22066	N	0.999386	B;P;B;B;B	0.37233	0.166;0.588;0.433;0.433;0.433	B;B;B;B;B	0.36808	0.03;0.156;0.156;0.156;0.233	T	0.14008	-1.0488	10	0.51188	T	0.08	.	9.519	0.39124	0.0:0.623:0.0:0.377	.	721;630;729;728;721	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	Q	728;721;729;286;630	ENSP00000224949:R728Q;ENSP00000370377:R729Q;ENSP00000370382:R286Q;ENSP00000401201:R630Q	ENSP00000224949:R728Q	R	-	2	0	PITRM1	3179816	0.963000	0.33076	0.269000	0.24586	0.040000	0.13550	1.157000	0.31724	0.074000	0.16767	0.561000	0.74099	CGG		0.582	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			46	150	0	0	0	1	0	46	150				
SLC9C1	285335	broad.mit.edu	37	3	111927206	111927206	+	Missense_Mutation	SNP	C	C	T	rs142600000	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111927206C>T	ENST00000305815.5	-	16	2057	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554H	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	602	Ion transport-like.				cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.R602H(1)									ATGGCATATACGAAAAAAGAA	0.274													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19107	0.0		0.0	False		,,,				2504	0.0					ENST00000305815.5																			1	Substitution - Missense(1)	p.R602H(1)	lung(1)								c.(1804-1806)cGt>cAt		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1		C	HIS/ARG	5,4369	9.9+/-24.2	0,5,2182	58.0	68.0	65.0		1805	-6.3	0.0	3	dbSNP_134	65	2,8560	2.2+/-6.3	0,2,4279	yes	missense	SLC9A10	NM_183061.1	29	0,7,6461	TT,TC,CC		0.0234,0.1143,0.0541	benign	602/1178	111927206	7,12929	2187	4281	6468	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111927206C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1805G>A	3.37:g.111927206C>T	ENSP00000306627:p.Arg602His					SLC9C1_ENST00000487372.1_Missense_Mutation_p.R554H	p.R602H	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			16	2057	-			602			Ion transport-like.		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1805G>A	CCDS33817.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	2.573	-0.299273	0.05532	0.001143	2.34E-4	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.79749	-1.3;-1.3	5.72	-6.3	0.02007	.	1.744570	0.02673	N	0.108746	T	0.60894	0.2304	N	0.12746	0.255	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.49163	-0.8968	10	0.35671	T	0.21	-12.0552	5.5219	0.16938	0.2422:0.29:0.0:0.4678	.	554;602	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	H	602;554	ENSP00000306627:R602H;ENSP00000420688:R554H	ENSP00000306627:R602H	R	-	2	0	SLC9A10	113409896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.622000	0.00877	-0.953000	0.03645	-2.072000	0.00384	CGT		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		5	68	0	0	0	1	0	5	68				
FAM73B	84895	broad.mit.edu	37	9	131832160	131832160	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131832160C>T	ENST00000358369.4	+	15	1717	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	497					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ATTTCTACTCCGTATCGGAGC	0.592																																						ENST00000358369.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(1489-1491)tcC>tcT		family with sequence similarity 73, member B							175.0	159.0	165.0					9																	131832160		2203	4300	6503	SO:0001819	synonymous_variant	84895					integral to membrane		g.chr9:131832160C>T	AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1491C>T	9.37:g.131832160C>T						FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	p.S497S	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN			15	1717	+			497					Q8NBM3|Q8TEJ6|Q969E6	Silent	SNP	ENST00000358369.4	37	c.1491C>T	CCDS6917.1																																																																																				0.592	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054542.7	NM_032809		73	156	0	0	0	1	0	73	156				
HECTD4	283450	broad.mit.edu	37	12	112708216	112708216	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:112708216C>T	ENST00000430131.2	-	11	1839	c.694G>A	c.(694-696)Gtt>Att	p.V232I	HECTD4_ENST00000550722.1_Missense_Mutation_p.V520I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V482I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	232					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V482I(1)|p.V232I(1)									ATCGCACCAACGTGGTGCAAT	0.448																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.V482I(1)|p.V232I(1)	lung(2)								c.(1558-1560)Gtt>Att		HECT domain containing E3 ubiquitin protein ligase 4							284.0	283.0	283.0					12																	112708216		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112708216C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.694G>A	12.37:g.112708216C>T	ENSP00000404379:p.Val232Ile					HECTD4_ENST00000430131.2_Missense_Mutation_p.V232I|HECTD4_ENST00000377560.5_Missense_Mutation_p.V482I	p.V520I	NM_001109662.3	NP_001103132.3					12	1953	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.569757	0.86439	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.57752	0.39;0.4;0.38	5.78	5.78	0.91487	.	.	.	.	.	T	0.59662	0.2210	N	0.19112	0.55	0.48087	D	0.999587	D;D;D	0.57899	0.981;0.968;0.981	P;P;P	0.62184	0.899;0.854;0.899	T	0.64028	-0.6503	9	0.87932	D	0	.	20.0079	0.97439	0.0:1.0:0.0:0.0	.	232;232;232	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	I	482;232;520	ENSP00000366783:V482I;ENSP00000404379:V232I;ENSP00000449784:V520I	ENSP00000366783:V482I	V	-	1	0	C12orf51	111192599	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.456000	0.80751	2.722000	0.93159	0.655000	0.94253	GTT		0.448	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	229	0	0	0	1	0	5	229				
PCNXL2	80003	broad.mit.edu	37	1	233190117	233190117	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:233190117G>A	ENST00000258229.9	-	25	4482	c.4248C>T	c.(4246-4248)ggC>ggT	p.G1416G	PCNXL2_ENST00000344698.2_Silent_p.G68G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1416						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAAGCAATCGCCAGAGCTGT	0.443																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4246-4248)ggC>ggT		pecanex-like 2 (Drosophila)							66.0	65.0	65.0					1																	233190117		1890	4118	6008	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233190117G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4248C>T	1.37:g.233190117G>A						PCNXL2_ENST00000344698.2_Silent_p.G68G	p.G1416G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			25	4482	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1416					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.4248C>T	CCDS44335.1																																																																																				0.443	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		11	36	0	0	0	1	0	11	36				
LZTS1	11178	broad.mit.edu	37	8	20107641	20107641	+	Silent	SNP	C	C	T	rs35939758		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:20107641C>T	ENST00000381569.1	-	4	1740	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	LZTS1_ENST00000522290.1_Silent_p.A461A|LZTS1_ENST00000265801.6_Silent_p.A461A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	461					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCAGCAGCTCCGCCTCGTTCT	0.701													t|||	1	0.000199681	0.0008	0.0	5008	,	,		17523	0.0		0.0	False		,,,				2504	0.0					ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1381-1383)gcG>gcA		leucine zipper, putative tumor suppressor 1							61.0	63.0	62.0					8																	20107641		2202	4300	6502	SO:0001819	synonymous_variant	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107641C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1383G>A	8.37:g.20107641C>T						LZTS1_ENST00000265801.6_Silent_p.A461A|LZTS1_ENST00000522290.1_Silent_p.A461A	p.A461A			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1740	-			461					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	ENST00000381569.1	37	c.1383G>A	CCDS6015.1																																																																																				0.701	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		61	149	0	0	0	1	0	61	149				
FAM173B	134145	broad.mit.edu	37	5	10227710	10227710	+	Missense_Mutation	SNP	C	C	T	rs371836379		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10227710C>T	ENST00000511437.1	-	5	557	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_Missense_Mutation_p.R18Q|FAM173B_ENST00000510047.1_Missense_Mutation_p.R165Q	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	182						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATAACTCGTGCATCATC	0.478																																						ENST00000280330.8																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						c.(52-54)cGa>cAa		family with sequence similarity 173, member B		C	GLN/ARG	1,3933		0,1,1966	120.0	113.0	115.0		545	5.2	0.3	5		115	0,8308		0,0,4154	no	missense	FAM173B	NM_199133.2	43	0,1,6120	TT,TC,CC		0.0,0.0254,0.0082	probably-damaging	182/234	10227710	1,12241	1967	4154	6121	SO:0001583	missense	134145					integral to membrane		g.chr5:10227710C>T		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.545G>A	5.37:g.10227710C>T	ENSP00000422338:p.Arg182Gln					FAM173B_ENST00000511437.1_Missense_Mutation_p.R182Q|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R165Q	p.R18Q			Q6P4H8	F173B_HUMAN			6	659	-			182					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.53G>A	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506479	0.44558	2.54E-4	0.0	ENSG00000150756	ENST00000280330;ENST00000511437;ENST00000510047	T;T;T	0.21734	1.99;1.99;1.99	5.17	5.17	0.71159	.	0.201962	0.48286	D	0.000184	T	0.24198	0.0586	L	0.48174	1.505	0.35395	D	0.791066	D;P	0.57257	0.979;0.66	B;B	0.43680	0.427;0.121	T	0.21518	-1.0243	10	0.39692	T	0.17	-14.1057	17.6177	0.88072	0.0:1.0:0.0:0.0	.	165;182	E9PBZ4;Q6P4H8	.;F173B_HUMAN	Q	18;182;165	ENSP00000280330:R18Q;ENSP00000422338:R182Q;ENSP00000420876:R165Q	ENSP00000280330:R18Q	R	-	2	0	FAM173B	10280710	1.000000	0.71417	0.337000	0.25536	0.361000	0.29550	5.067000	0.64357	2.571000	0.86741	0.650000	0.86243	CGA		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		18	43	0	0	0	1	0	18	43				
PCDHA3	56145	broad.mit.edu	37	5	140182315	140182315	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182315C>T	ENST00000522353.2	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA3_ENST00000532566.2_Silent_p.H511H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTACACGCGGAGAGCG	0.706																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1531-1533)caC>caT									76.0	77.0	76.0					5																	140182315		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140182315C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1533C>T	5.37:g.140182315C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.H511H	p.H511H	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1533	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1533C>T	CCDS54915.1																																																																																				0.706	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		62	185	0	0	0	1	0	62	185				
AMER3	205147	broad.mit.edu	37	2	131520231	131520231	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:131520231C>T	ENST00000423981.1	+	2	696	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AMER3_ENST00000321420.4_Missense_Mutation_p.R196W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	196					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCCTGGGGGGCGGCGAAGCAA	0.672																																						ENST00000423981.1																			0											c.(586-588)Cgg>Tgg		APC membrane recruitment protein 3							25.0	32.0	29.0					2																	131520231		2200	4284	6484	SO:0001583	missense	205147							g.chr2:131520231C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.586C>T	2.37:g.131520231C>T	ENSP00000392700:p.Arg196Trp					AMER3_ENST00000321420.4_Missense_Mutation_p.R196W	p.R196W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	696	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.586C>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415480	0.25552	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.54279	0.58;0.58	5.21	0.769	0.18492	.	1.448950	0.03947	N	0.287921	T	0.52517	0.1739	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.54815	0.761	T	0.47560	-0.9108	10	0.72032	D	0.01	.	8.3373	0.32221	0.4865:0.3968:0.1168:0.0	.	196	Q8N944	F123C_HUMAN	W	196	ENSP00000314914:R196W;ENSP00000392700:R196W	ENSP00000314914:R196W	R	+	1	2	FAM123C	131236701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.044000	0.13992	0.009000	0.14813	-0.314000	0.08810	CGG		0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		23	55	0	0	0	1	0	23	55				
TRHDE	29953	broad.mit.edu	37	12	73056913	73056913	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:73056913C>T	ENST00000261180.4	+	19	3109	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1005					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCCAATGTGCGCTGGAAAAT	0.383																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(3013-3015)Cgc>Tgc		thyrotropin-releasing hormone degrading enzyme							60.0	62.0	62.0					12																	73056913		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73056913C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.3013C>T	12.37:g.73056913C>T	ENSP00000261180:p.Arg1005Cys						p.R1005C	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			19	3109	+			1005					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.3013C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902720	0.72754	.	.	ENSG00000072657	ENST00000261180	T	0.01438	4.89	5.35	4.41	0.53225	.	0.121053	0.56097	D	0.000033	T	0.06781	0.0173	M	0.69358	2.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.64506	0.926	T	0.06844	-1.0804	10	0.62326	D	0.03	.	15.9638	0.79950	0.1349:0.8651:0.0:0.0	.	1005	Q9UKU6	TRHDE_HUMAN	C	1005	ENSP00000261180:R1005C	ENSP00000261180:R1005C	R	+	1	0	TRHDE	71343180	0.992000	0.36948	0.998000	0.56505	0.939000	0.58152	2.952000	0.49097	2.673000	0.90976	0.557000	0.71058	CGC		0.383	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		15	36	0	0	0	1	0	15	36				
MAGT1	84061	broad.mit.edu	37	X	77150899	77150899	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:77150899C>T	ENST00000373336.3	-	1	38	c.9G>A	c.(7-9)gcG>gcA	p.A3A	MAGT1_ENST00000358075.6_Silent_p.A35A			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	3					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGCCAACGCGCTGCCATGT	0.567																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(103-105)gcG>gcA		magnesium transporter 1							133.0	85.0	101.0					X																	77150899		2203	4296	6499	SO:0001819	synonymous_variant	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77150899C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.9G>A	X.37:g.77150899C>T						MAGT1_ENST00000373336.3_Silent_p.A3A	p.A35A	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			1	191	-			3					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Silent	SNP	ENST00000373336.3	37	c.105G>A																																																																																					0.567	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		16	6	0	0	0	1	0	16	6				
OBP2B	29989	broad.mit.edu	37	9	136083533	136083533	+	Silent	SNP	G	G	A	rs138653366	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136083533G>A	ENST00000372034.3	-	3	305	c.264C>T	c.(262-264)ggC>ggT	p.G88G	OBP2B_ENST00000372032.2_Nonsense_Mutation_p.Q44*|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	88					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGCTGTATTTGCCAGGCTCCT	0.647													G|||	5	0.000998403	0.0038	0.0	5008	,	,		5942	0.0		0.0	False		,,,				2504	0.0					ENST00000372032.2																			0				central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(130-132)Caa>Taa		odorant binding protein 2B		G		14,4392	21.2+/-45.6	0,14,2189	64.0	61.0	62.0		264	-0.2	0.2	9	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous	OBP2B	NM_014581.2		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		88/171	136083533	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136083533G>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.264C>T	9.37:g.136083533G>A						OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372034.3_Silent_p.G88G	p.Q44*			Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	3	173	-			0					Q5VSP6|Q9NY51|Q9NY52	Nonsense_Mutation	SNP	ENST00000372034.3	37	c.130C>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891385	0.33442	0.003177	0.0	ENSG00000171102	ENST00000372032	.	.	.	1.91	-0.218	0.13142	.	.	.	.	.	.	.	.	.	.	.	0.45733	A	0.998637	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.9623	2.2629	0.04071	0.1955:0.0:0.5042:0.3003	.	.	.	.	X	44	.	ENSP00000361102:Q44X	Q	-	1	0	OBP2B	135073354	0.002000	0.14202	0.237000	0.24090	0.027000	0.11550	0.041000	0.13927	-0.069000	0.12931	0.585000	0.79938	CAA		0.647	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		11	30	0	0	0	1	0	11	30				
SCN1A	6323	broad.mit.edu	37	2	166894441	166894441	+	Missense_Mutation	SNP	G	G	A	rs121918788		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:166894441G>A	ENST00000303395.4	-	15	2790	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R903C|SCN1A_ENST00000375405.3_Missense_Mutation_p.R920C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R931C|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	931			R -> C (in EIEE6; dbSNP:rs121918788). {ECO:0000269|PubMed:12083760}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTGCCAGCGTGGGAGTTGA	0.512																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM024303	SCN1A	M	rs121918788	c.(2791-2793)Cgc>Tgc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						242.0	205.0	218.0					2																	166894441		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894441G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2791C>T	2.37:g.166894441G>A	ENSP00000303540:p.Arg931Cys					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R920C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R931C|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R903C	p.R931C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			15	2808	-			931		R -> C (in SMEI; dbSNP:rs121918788).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2791C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469793	0.63625	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99480	0.9815	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.981;0.998;0.99	D	0.97981	1.0349	10	0.87932	D	0	.	19.0487	0.93032	0.0:0.0:1.0:0.0	.	920;903;931	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	931;931;920;903	ENSP00000407030:R931C;ENSP00000303540:R931C;ENSP00000364554:R920C;ENSP00000386312:R903C	ENSP00000303540:R931C	R	-	1	0	SCN1A	166602687	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.804000	0.85993	2.583000	0.87209	0.591000	0.81541	CGC		0.512	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		61	152	0	0	0	1	0	61	152				
PDDC1	347862	broad.mit.edu	37	11	771082	771082	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:771082G>A	ENST00000319863.8	-	7	588	c.567C>T	c.(565-567)caC>caT	p.H189H	PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000524550.1_Silent_p.H153H|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.H139H	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	189						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCACGACGTGGACAGCGT	0.667																																						ENST00000319863.8																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(565-567)caC>caT		Parkinson disease 7 domain containing 1							40.0	40.0	40.0					11																	771082		2198	4298	6496	SO:0001819	synonymous_variant	347862					extracellular region		g.chr11:771082G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.567C>T	11.37:g.771082G>A						PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000524550.1_Silent_p.H153H|PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Silent_p.H139H	p.H189H	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	588	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	189					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	c.567C>T	CCDS7713.1	.	.	.	.	.	.	.	.	.	.	G	1.854	-0.464332	0.04476	.	.	ENSG00000177225	ENST00000465313	.	.	.	4.55	-0.832	0.10785	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48468	-0.9033	4	.	.	.	.	9.7391	0.40406	0.6048:0.0:0.3952:0.0	.	.	.	.	C	40	.	.	R	-	1	0	PDDC1	761082	0.939000	0.31865	0.409000	0.26459	0.153000	0.21895	-0.061000	0.11693	-0.383000	0.07858	0.462000	0.41574	CGT		0.667	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2	NM_182612		8	18	0	0	0	1	0	8	18				
TRPM2	7226	broad.mit.edu	37	21	45802622	45802622	+	Missense_Mutation	SNP	C	C	T	rs146431153	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45802622C>T	ENST00000397928.1	+	9	1682	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	TRPM2_ENST00000397932.2_Missense_Mutation_p.R413W|TRPM2_ENST00000300482.5_Missense_Mutation_p.R413W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R413W	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	413					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCCGGAGGCGGCAGCTGCT	0.552													C|||	3	0.000599042	0.0015	0.0	5008	,	,		21458	0.001		0.0	False		,,,				2504	0.0					ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1237-1239)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	66.0	50.0	56.0		1237	3.2	1.0	21	dbSNP_134	56	0,8600		0,0,4300	yes	missense	TRPM2	NM_003307.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	413/1504	45802622	1,13005	2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45802622C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1237C>T	21.37:g.45802622C>T	ENSP00000381023:p.Arg413Trp					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R413W|TRPM2_ENST00000300482.5_Missense_Mutation_p.R413W|TRPM2_ENST00000397932.2_Missense_Mutation_p.R413W	p.R413W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			9	1682	+			413					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1237C>T	CCDS13710.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	16.65	3.183394	0.57800	2.27E-4	0.0	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.14	3.15	0.36227	.	0.214318	0.39146	N	0.001454	T	0.52741	0.1753	M	0.81942	2.565	0.38585	D	0.950288	D;D	0.76494	0.999;0.999	P;P	0.56216	0.794;0.719	T	0.62120	-0.6921	10	0.87932	D	0	-39.5805	11.0196	0.47709	0.3866:0.6134:0.0:0.0	.	413;413	E9PGK7;O94759	.;TRPM2_HUMAN	W	413	ENSP00000300482:R413W;ENSP00000381023:R413W;ENSP00000300481:R413W;ENSP00000381026:R413W	ENSP00000300481:R413W	R	+	1	2	TRPM2	44627050	0.978000	0.34361	1.000000	0.80357	0.986000	0.74619	0.125000	0.15749	0.786000	0.33708	0.484000	0.47621	CGG		0.552	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		13	20	0	0	0	1	0	13	20				
ATP8B2	57198	broad.mit.edu	37	1	154321480	154321480	+	Silent	SNP	G	G	A	rs557794271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154321480G>A	ENST00000368489.3	+	28	3558	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1172					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCTCTCGCGCTCTCCAGCT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18290	0.0		0.0	False		,,,				2504	0.001					ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(3556-3558)gcG>gcA		ATPase, aminophospholipid transporter, class I, type 8B, member 2							45.0	44.0	44.0					1																	154321480		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154321480G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3558G>A	1.37:g.154321480G>A							p.A1186A	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		28	3558	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1172					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.3558G>A	CCDS1066.1																																																																																				0.642	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		16	41	0	0	0	1	0	16	41				
AMZ1	155185	broad.mit.edu	37	7	2751998	2751998	+	Missense_Mutation	SNP	C	C	T	rs149900602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2751998C>T	ENST00000312371.4	+	7	1351	c.983C>T	c.(982-984)aCg>aTg	p.T328M	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.D271D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	328							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGTGGGGACGTGGCCCAGC	0.662																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(982-984)aCg>aTg		archaelysin family metallopeptidase 1		C	MET/THR	0,4406		0,0,2203	30.0	35.0	33.0		983	2.0	0.0	7	dbSNP_134	33	4,8596	3.7+/-12.6	0,4,4296	yes	missense	AMZ1	NM_133463.1	81	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	328/499	2751998	4,13002	2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2751998C>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.983C>T	7.37:g.2751998C>T	ENSP00000308149:p.Thr328Met					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.D271D	p.T328M	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1351	+		Ovarian(82;0.0779)	328					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.983C>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	3.967	-0.009158	0.07727	0.0	4.65E-4	ENSG00000174945	ENST00000312371	T	0.24538	1.85	4.85	1.97	0.26223	.	0.709020	0.13103	N	0.413587	T	0.13286	0.0322	N	0.25485	0.75	0.09310	N	1	P	0.34587	0.458	B	0.19391	0.025	T	0.15378	-1.0439	10	0.44086	T	0.13	-2.7161	5.6778	0.17759	0.0:0.6387:0.1769:0.1844	.	328	Q400G9	AMZ1_HUMAN	M	328	ENSP00000308149:T328M	ENSP00000308149:T328M	T	+	2	0	AMZ1	2718524	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.623000	0.24447	0.089000	0.17243	0.462000	0.41574	ACG		0.662	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		10	17	0	0	0	1	0	10	17				
MYOM1	8736	broad.mit.edu	37	18	3215169	3215169	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3215169C>T	ENST00000356443.4	-	2	386	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MYOM1_ENST00000400569.3_Missense_Mutation_p.R18H|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R18H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	18					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCCTTGTTGCGGTAGCTGAG	0.577																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(52-54)cGc>cAc		myomesin 1							48.0	53.0	52.0					18																	3215169		2105	4244	6349	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3215169C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.53G>A	18.37:g.3215169C>T	ENSP00000348821:p.Arg18His					RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R18H|MYOM1_ENST00000400569.3_Missense_Mutation_p.R18H	p.R18H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			2	386	-			18					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.53G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370394	0.82573	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.67698	-0.15;-0.15;-0.28	5.41	3.55	0.40652	.	0.199109	0.44483	D	0.000452	T	0.70988	0.3287	L	0.32530	0.975	0.37644	D	0.922151	D;D	0.89917	1.0;0.998	D;P	0.74674	0.984;0.791	T	0.74583	-0.3617	10	0.87932	D	0	.	10.8119	0.46551	0.0:0.8348:0.0:0.1652	.	18;18	P52179-2;P52179	.;MYOM1_HUMAN	H	18	ENSP00000348821:R18H;ENSP00000383413:R18H;ENSP00000261606:R18H	ENSP00000261606:R18H	R	-	2	0	MYOM1	3205169	0.957000	0.32711	0.632000	0.29296	0.945000	0.59286	1.599000	0.36751	0.588000	0.29660	0.655000	0.94253	CGC		0.577	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		3	27	0	0	0	1	0	3	27				
PCLO	27445	broad.mit.edu	37	7	82580189	82580189	+	Missense_Mutation	SNP	G	G	A	rs377059138		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82580189G>A	ENST00000333891.9	-	6	10052	c.9715C>T	c.(9715-9717)Cgt>Tgt	p.R3239C	PCLO_ENST00000423517.2_Missense_Mutation_p.R3239C|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTCCTGACGTTCCCACTCC	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9715-9717)Cgt>Tgt		piccolo presynaptic cytomatrix protein		G	CYS/ARG,CYS/ARG	1,3729		0,1,1864	78.0	75.0	76.0		9715,9715	5.4	1.0	7		76	0,8212		0,0,4106	no	missense,missense	PCLO	NM_014510.2,NM_033026.5	180,180	0,1,5970	AA,AG,GG		0.0,0.0268,0.0084	probably-damaging,probably-damaging	3239/4936,3239/5143	82580189	1,11941	1865	4106	5971	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.chr7:82580189G>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.9715C>T	7.37:g.82580189G>A	ENSP00000334319:p.Arg3239Cys					PCLO_ENST00000333891.8_Missense_Mutation_p.R3239C	p.R3239C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	10052	-			3170			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9715C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	2.890	-0.229896	0.06022	2.68E-4	0.0	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.60171	0.21;0.25	5.45	5.45	0.79879	.	.	.	.	.	T	0.77308	0.4111	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.79626	-0.1725	9	0.87932	D	0	.	18.8749	0.92331	0.0:0.0:1.0:0.0	.	3170;3239;3239	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3170;3239;3239	ENSP00000334319:R3239C;ENSP00000388393:R3239C	ENSP00000334319:R3239C	R	-	1	0	PCLO	82418125	1.000000	0.71417	0.992000	0.48379	0.350000	0.29205	4.323000	0.59221	2.565000	0.86533	0.462000	0.41574	CGT		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		31	75	0	0	0	1	0	31	75				
CLPB	81570	broad.mit.edu	37	11	72141383	72141383	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72141383C>T	ENST00000294053.3	-	2	601	c.428G>A	c.(427-429)cGt>cAt	p.R143H	CLPB_ENST00000543042.1_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.R143H|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.R143H|CLPB_ENST00000445069.2_Missense_Mutation_p.R39H|CLPB_ENST00000437826.2_Silent_p.P62P	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	143					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATTGTTGGCACGGGCAGCTTC	0.587																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(427-429)cGt>cAt		ClpB caseinolytic peptidase B homolog (E. coli)							69.0	63.0	65.0					11																	72141383		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72141383C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.428G>A	11.37:g.72141383C>T	ENSP00000294053:p.Arg143His					CLPB_ENST00000445069.2_Missense_Mutation_p.R39H|CLPB_ENST00000340729.5_Missense_Mutation_p.R143H|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.R143H|CLPB_ENST00000437826.2_Silent_p.P62P|CLPB_ENST00000543042.1_Intron	p.R143H	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			2	601	-			143					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.428G>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470627	0.84533	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000340729	T;T;T	0.66460	-0.21;-0.21;1.3	5.17	5.17	0.71159	Ankyrin repeat-containing domain (4);	0.063402	0.56097	D	0.000029	T	0.74898	0.3777	L	0.43701	1.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.966;0.934;0.973	T	0.76449	-0.2955	10	0.72032	D	0.01	-8.4471	14.0326	0.64624	0.0:1.0:0.0:0.0	.	143;143;143	F8W7P6;Q9H078-2;Q9H078	.;.;CLPB_HUMAN	H	143	ENSP00000294053:R143H;ENSP00000441518:R143H;ENSP00000340385:R143H	ENSP00000294053:R143H	R	-	2	0	CLPB	71819031	0.938000	0.31826	0.822000	0.32727	0.975000	0.68041	2.373000	0.44266	2.691000	0.91804	0.655000	0.94253	CGT		0.587	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		5	19	0	0	0	1	0	5	19				
COX15	1355	broad.mit.edu	37	10	101486760	101486760	+	Missense_Mutation	SNP	G	G	A	rs371107669		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101486760G>A	ENST00000016171.5	-	4	597	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	COX15_ENST00000370483.5_Missense_Mutation_p.R183C|CUTC_ENST00000493385.1_Intron			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	183					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAAGAACACGTCCTTTCATG	0.517																																						ENST00000370483.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(547-549)Cgt>Tgt		cytochrome c oxidase assembly homolog 15 (yeast)		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	76.0	73.0	74.0		547,547	5.2	1.0	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COX15	NM_004376.5,NM_078470.4	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	183/389,183/411	101486760	1,13005	2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101486760G>A	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.547C>T	10.37:g.101486760G>A	ENSP00000016171:p.Arg183Cys					COX15_ENST00000016171.5_Missense_Mutation_p.R183C|CUTC_ENST00000493385.1_Intron	p.R183C	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	4	597	-		Colorectal(252;0.234)	183					A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.547C>T	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434117	0.83776	0.0	1.16E-4	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83837	-1.77;-1.77	5.24	5.24	0.73138	.	0.051839	0.85682	D	0.000000	D	0.94165	0.8128	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.954;0.969	D	0.95730	0.8774	10	0.87932	D	0	-12.4631	19.1851	0.93641	0.0:0.0:1.0:0.0	.	183;183	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	C	183	ENSP00000359514:R183C;ENSP00000016171:R183C	ENSP00000016171:R183C	R	-	1	0	COX15	101476750	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.340000	0.52143	2.608000	0.88229	0.591000	0.81541	CGT		0.517	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		11	51	0	0	0	1	0	11	51				
COL22A1	169044	broad.mit.edu	37	8	139890023	139890023	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:139890023G>A	ENST00000303045.6	-	3	1074	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R210W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCTTGCCCCGGATCTTGTCG	0.667										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(628-630)Cgg>Tgg		collagen, type XXII, alpha 1							36.0	37.0	37.0					8																	139890023		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139890023G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.628C>T	8.37:g.139890023G>A	ENSP00000303153:p.Arg210Trp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.R210W	p.R210W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		3	1074	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		210			VWFA.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.628C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310218	0.60414	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	T;T	0.78126	-1.15;-1.15	5.03	3.23	0.37069	von Willebrand factor, type A (3);	0.000000	0.46758	D	0.000278	T	0.72740	0.3498	M	0.77616	2.38	0.48571	D	0.999673	B	0.19583	0.037	B	0.15484	0.013	T	0.64228	-0.6457	9	.	.	.	.	6.0205	0.19626	0.1595:0.0:0.6904:0.1501	.	210	Q8NFW1	COMA1_HUMAN	W	210	ENSP00000303153:R210W;ENSP00000387655:R210W	.	R	-	1	2	COL22A1	139959205	1.000000	0.71417	0.966000	0.40874	0.626000	0.37791	1.545000	0.36169	0.499000	0.27970	-0.140000	0.14226	CGG		0.667	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		18	51	0	0	0	1	0	18	51				
SGSM2	9905	broad.mit.edu	37	17	2280072	2280072	+	Silent	SNP	C	C	T	rs536200061		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2280072C>T	ENST00000426855.2	+	19	2695	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	RP1-59D14.5_ENST00000574290.1_RNA|RP1-59D14.5_ENST00000573007.1_RNA|SGSM2_ENST00000268989.3_Silent_p.C885C|SGSM2_ENST00000574563.1_Silent_p.C840C	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	840	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19380	0.0		0.0	False		,,,				2504	0.001					ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2653-2655)tgC>tgT		small G protein signaling modulator 2							172.0	156.0	161.0					17																	2280072		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2280072C>T	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2520C>T	17.37:g.2280072C>T						SGSM2_ENST00000574563.1_Silent_p.C840C|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.C840C	p.C885C	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	20	2832	+			840			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.2655C>T	CCDS45570.1																																																																																				0.632	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		63	156	0	0	0	1	0	63	156				
ASTN2	23245	broad.mit.edu	37	9	119249669	119249669	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119249669A>T	ENST00000313400.4	-	20	3566	c.3466T>A	c.(3466-3468)Ttc>Atc	p.F1156I	ASTN2_ENST00000288520.5_Missense_Mutation_p.F257I|ASTN2_ENST00000373996.3_Missense_Mutation_p.F1152I|ASTN2_ENST00000341734.4_Missense_Mutation_p.F208I|ASTN2_ENST00000361477.3_Missense_Mutation_p.F208I|ASTN2_ENST00000361209.2_Missense_Mutation_p.F1105I			O75129	ASTN2_HUMAN	astrotactin 2	1156	Fibronectin type-III.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACACTTGAAGATGACTGAG	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(3466-3468)Ttc>Atc		astrotactin 2							125.0	112.0	116.0					9																	119249669		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119249669A>T	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3466T>A	9.37:g.119249669A>T	ENSP00000314038:p.Phe1156Ile					ASTN2_ENST00000361477.3_Missense_Mutation_p.F208I|ASTN2_ENST00000341734.4_Missense_Mutation_p.F208I|ASTN2_ENST00000288520.5_Missense_Mutation_p.F257I|ASTN2_ENST00000361209.2_Missense_Mutation_p.F1105I|ASTN2_ENST00000373996.3_Missense_Mutation_p.F1152I	p.F1156I			O75129	ASTN2_HUMAN			20	3566	-			1156			Fibronectin type-III.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.3466T>A		.	.	.	.	.	.	.	.	.	.	A	10.95	1.494685	0.26774	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.49	5.49	0.81192	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	N	0.05124	-0.11	0.80722	D	1	D;D;B;D;B;D;D	0.63880	0.989;0.989;0.043;0.993;0.037;0.989;0.989	D;D;B;D;B;D;D	0.72625	0.978;0.978;0.019;0.977;0.039;0.978;0.978	T	0.13818	-1.0495	10	0.02654	T	1	-30.7006	15.8844	0.79232	1.0:0.0:0.0:0.0	.	208;208;1105;1156;1152;208;257	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	I	1156;1152;257;208;879;1105;208	ENSP00000314038:F1156I;ENSP00000363108:F1152I;ENSP00000288520:F257I;ENSP00000339925:F208I;ENSP00000363098:F879I;ENSP00000354504:F1105I;ENSP00000355116:F208I	ENSP00000288520:F257I	F	-	1	0	ASTN2	118289490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.687000	0.91255	2.218000	0.71995	0.533000	0.62120	TTC		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		33	83	0	0	0	1	0	33	83				
LRRC8D	55144	broad.mit.edu	37	1	90400076	90400076	+	Silent	SNP	C	C	T	rs370858889		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(1447-1449)ccC>ccT		leucine rich repeat containing 8 family, member D		C	,	1,4405	2.1+/-5.4	0,1,2202	47.0	47.0	47.0		1449,1449	-1.8	1.0	1		47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRRC8D	NM_001134479.1,NM_018103.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	483/859,483/859	90400076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90400076C>T	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1449C>T	1.37:g.90400076C>T						LRRC8D_ENST00000394593.3_Silent_p.P483P	p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1856	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	483					D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.1449C>T	CCDS726.1																																																																																				0.468	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		20	55	0	0	0	1	0	20	55				
LRRN4CL	221091	broad.mit.edu	37	11	62455621	62455621	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:62455621G>A	ENST00000317449.4	-	2	837	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	120	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)		p.D120D(1)		cervix(1)|kidney(1)	2						CCTCGCTGCCGTCCCAAAGCA	0.657																																						ENST00000317449.4																			1	Substitution - coding silent(1)	p.D120D(1)	cervix(1)	cervix(1)|kidney(1)	2						c.(358-360)gaC>gaT		LRRN4 C-terminal like							12.0	14.0	13.0					11																	62455621		2121	4166	6287	SO:0001819	synonymous_variant	221091					integral to membrane		g.chr11:62455621G>A	AK291334	CCDS8030.1	11q12.3	2013-02-11				ENSG00000177363		"""Fibronectin type III domain containing"""	33724	protein-coding gene	gene with protein product							Standard	NM_203422		Approved		uc001nun.3	Q8ND94		ENST00000317449.4:c.360C>T	11.37:g.62455621G>A							p.D120D	NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN			2	837	-			120			Fibronectin type-III.		A8K5L9	Silent	SNP	ENST00000317449.4	37	c.360C>T	CCDS8030.1																																																																																				0.657	LRRN4CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395168.1	NM_203422		13	34	0	0	0	1	0	13	34				
ZNF276	92822	broad.mit.edu	37	16	89799939	89799939	+	Missense_Mutation	SNP	G	G	A	rs141797932		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89799939G>A	ENST00000443381.2	+	8	1427	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	ZNF276_ENST00000568064.1_Missense_Mutation_p.V352M|ZNF276_ENST00000446326.2_Missense_Mutation_p.V230M|ZNF276_ENST00000289816.5_Missense_Mutation_p.V369M	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGCACGGCCGTGTACCGAGG	0.642																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(1105-1107)Gtg>Atg		zinc finger protein 276		G	MET/VAL,MET/VAL	0,4394		0,0,2197	95.0	87.0	90.0		1330,1105	5.7	1.0	16	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ZNF276	NM_001113525.1,NM_152287.3	21,21	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	444/615,369/540	89799939	2,12992	2197	4300	6497	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89799939G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1330G>A	16.37:g.89799939G>A	ENSP00000415836:p.Val444Met					ZNF276_ENST00000568064.1_Missense_Mutation_p.V352M|ZNF276_ENST00000446326.2_Missense_Mutation_p.V230M|ZNF276_ENST00000443381.2_Missense_Mutation_p.V444M	p.V369M	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	8	1417	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	444					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1105G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932899	0.92458	0.0	2.33E-4	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.77750	-1.12;-1.12;-1.12	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84120	0.5402	L	0.38175	1.15	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.85199	0.1014	10	0.72032	D	0.01	-27.3966	18.7944	0.91988	0.0:0.0:1.0:0.0	.	282;444;230;369	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	M	230;369;444	ENSP00000415999:V230M;ENSP00000289816:V369M;ENSP00000415836:V444M	ENSP00000289816:V369M	V	+	1	0	ZNF276	88327440	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	8.678000	0.91211	2.679000	0.91253	0.655000	0.94253	GTG		0.642	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		44	78	0	0	0	1	0	44	78				
DDX46	9879	broad.mit.edu	37	5	134118636	134118636	+	Splice_Site	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:134118636G>T	ENST00000354283.4	+	9	1182	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	DDX46_ENST00000452510.2_Splice_Site_p.E349D|DDX46_ENST00000509178.1_3'UTR			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	349					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTGTAGAGGTAAATGTGT	0.343																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e9-1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							107.0	109.0	108.0					5																	134118636		2203	4300	6503	SO:0001630	splice_region_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134118636G>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1046-1G>T	5.37:g.134118636G>T						DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Splice_Site_p.E349_splice	p.E349_splice	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1205	+			349					O94894|Q96EI0|Q9Y658	Splice_Site	SNP	ENST00000354283.4	37	c.1045_splice	CCDS34240.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480602	0.44044	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.78816	-1.21;-1.21	5.03	3.22	0.36961	.	0.047678	0.85682	D	0.000000	T	0.65471	0.2694	N	0.25825	0.765	0.58432	D	0.999997	B	0.16396	0.017	B	0.23852	0.049	T	0.60244	-0.7301	10	0.34782	T	0.22	.	11.7186	0.51668	0.1472:0.0:0.8528:0.0	.	349	Q7L014	DDX46_HUMAN	D	349	ENSP00000416534:E349D;ENSP00000346236:E349D	ENSP00000346236:E349D	E	+	3	2	DDX46	134146535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.769000	0.38522	1.116000	0.41820	0.557000	0.71058	GAG		0.343	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Missense_Mutation	8	64	1	0	0.00621372	1	0.0062834	8	64				
CASR	846	broad.mit.edu	37	3	122002728	122002728	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122002728G>A	ENST00000490131.1	+	7	2299	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.V643I|CASR_ENST00000498619.1_Missense_Mutation_p.V653I	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	643					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACACCCATTGTCAAGGCCAC	0.577																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1957-1959)Gtc>Atc		calcium-sensing receptor	Cinacalcet(DB01012)						171.0	120.0	137.0					3																	122002728		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002728G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1927G>A	3.37:g.122002728G>A	ENSP00000418685:p.Val643Ile					CASR_ENST00000296154.5_Missense_Mutation_p.V643I|CASR_ENST00000490131.1_Missense_Mutation_p.V643I	p.V653I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2395	+			643					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1957G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377510	0.82682	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.90900	-2.75;-2.75;-2.75	5.91	5.91	0.95273	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.88512	2.96	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.994	D	0.96194	0.9140	10	0.66056	D	0.02	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	653;643	E7ENE0;P41180	.;CASR_HUMAN	I	643;653;643	ENSP00000418685:V643I;ENSP00000420194:V653I;ENSP00000296154:V643I	ENSP00000296154:V643I	V	+	1	0	CASR	123485418	1.000000	0.71417	0.986000	0.45419	0.925000	0.55904	9.869000	0.99810	2.804000	0.96469	0.462000	0.41574	GTC		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		21	69	0	0	0	1	0	21	69				
PHYKPL	85007	broad.mit.edu	37	5	177651532	177651532	+	Missense_Mutation	SNP	G	G	A	rs573140258	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:177651532G>A	ENST00000308158.5	-	6	769	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	179						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TGGTCCTCCCGGTAGGGGCCC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		19327	0.0		0.0	False		,,,				2504	0.002					ENST00000308158.5																			0											c.(535-537)Cgg>Tgg		5-phosphohydroxy-L-lysine phospho-lyase							88.0	83.0	85.0					5																	177651532		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177651532G>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.535C>T	5.37:g.177651532G>A	ENSP00000310978:p.Arg179Trp					PHYKPL_ENST00000481811.1_Intron	p.R179W	NM_153373.2	NP_699204.1					6	769	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.535C>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573193	0.65765	.	.	ENSG00000175309	ENST00000308158;ENST00000323594	T;T	0.43688	2.12;0.94	6.06	3.21	0.36854	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.110656	0.64402	D	0.000014	T	0.64951	0.2645	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.978;0.988	T	0.67554	-0.5641	10	0.72032	D	0.01	-20.6094	12.3081	0.54914	0.0:0.0:0.557:0.443	.	179;179	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	W	179;193	ENSP00000310978:R179W;ENSP00000321290:R193W	ENSP00000310978:R179W	R	-	1	2	AGXT2L2	177584138	1.000000	0.71417	0.316000	0.25252	0.934000	0.57294	1.468000	0.35332	0.383000	0.24910	0.655000	0.94253	CGG		0.632	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		19	48	0	0	0	1	0	19	48				
BCL2A1	597	broad.mit.edu	37	15	80263148	80263148	+	Missense_Mutation	SNP	C	C	T	rs138123718		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:80263148C>T	ENST00000267953.3	-	1	640	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	BCL2A1_ENST00000335661.6_Missense_Mutation_p.R105Q	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	105					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AATTTGCTGTCGTAGAAGTTT	0.388																																						ENST00000267953.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(313-315)cGa>cAa		BCL2-related protein A1		C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	152.0	154.0	153.0		314,314	-4.2	0.0	15	dbSNP_134	153	0,8600		0,0,4300	no	missense,missense	BCL2A1	NM_001114735.1,NM_004049.3	43,43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	105/164,105/176	80263148	3,13003	2203	4300	6503	SO:0001583	missense	597				anti-apoptosis|apoptosis	cytoplasm	protein binding	g.chr15:80263148C>T		CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.314G>A	15.37:g.80263148C>T	ENSP00000267953:p.Arg105Gln					BCL2A1_ENST00000335661.6_Missense_Mutation_p.R105Q	p.R105Q	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN			1	640	-			105					Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	c.314G>A	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824631	0.16678	6.81E-4	0.0	ENSG00000140379	ENST00000267953;ENST00000335661	T;T	0.12147	2.71;2.71	5.63	-4.16	0.03869	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	1.194410	0.06065	N	0.659056	T	0.07683	0.0193	N	0.25245	0.725	0.09310	N	1	B;B	0.17268	0.021;0.015	B;B	0.12156	0.007;0.004	T	0.42481	-0.9449	10	0.13470	T	0.59	-14.8973	7.3817	0.26859	0.0:0.2476:0.2166:0.5358	.	105;105	Q86W13;Q16548	.;B2LA1_HUMAN	Q	105	ENSP00000267953:R105Q;ENSP00000335250:R105Q	ENSP00000267953:R105Q	R	-	2	0	BCL2A1	78050203	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.409000	0.07160	-0.925000	0.03775	-0.140000	0.14226	CGA		0.388	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1	NM_004049		68	122	0	0	0	1	0	68	122				
NDC80	10403	broad.mit.edu	37	18	2573008	2573008	+	Silent	SNP	C	C	T	rs374603804		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2573008C>T	ENST00000261597.4	+	2	206	c.24C>T	c.(22-24)agC>agT	p.S8S	METTL4_ENST00000319888.6_5'Flank|METTL4_ENST00000574538.1_5'Flank	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	8	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTTTCCAGCGGTGGTGCTG	0.428																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(22-24)agC>agT		NDC80 kinetochore complex component		C		0,4406		0,0,2203	97.0	88.0	91.0		24	-1.3	0.8	18		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NDC80	NM_006101.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		8/643	2573008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2573008C>T	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.24C>T	18.37:g.2573008C>T							p.S8S	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			2	206	+			8			Interaction with the N-terminus of CDCA1.|Nuclear localization.		Q6PJX2	Silent	SNP	ENST00000261597.4	37	c.24C>T	CCDS11827.1																																																																																				0.428	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		4	48	0	0	0	1	0	4	48				
NINL	22981	broad.mit.edu	37	20	25472047	25472047	+	Silent	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:25472047G>A	ENST00000278886.6	-	11	1498	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	NINL_ENST00000422516.1_Silent_p.D475D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	475					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCGCCCCACGTCCCACTCCA	0.701																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1423-1425)gaC>gaT		ninein-like							56.0	60.0	58.0					20																	25472047		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25472047G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1425C>T	20.37:g.25472047G>A						NINL_ENST00000422516.1_Silent_p.D475D	p.D475D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			11	1498	-			475					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.1425C>T	CCDS33452.1																																																																																				0.701	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		35	67	0	0	0	1	0	35	67				
SPG11	80208	broad.mit.edu	37	15	44858060	44858060	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:44858060A>G	ENST00000261866.7	-	38	7007	c.6991T>C	c.(6991-6993)Ttc>Ctc	p.F2331L	SPG11_ENST00000535302.2_Missense_Mutation_p.F2218L|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2331					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGGTAGAACCGAGGTAGG	0.517																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6991-6993)Ttc>Ctc		spastic paraplegia 11 (autosomal recessive)							62.0	44.0	50.0					15																	44858060		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44858060A>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6991T>C	15.37:g.44858060A>G	ENSP00000261866:p.Phe2331Leu					SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.F2218L	p.F2331L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	38	7007	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2331					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.6991T>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.667924	0.88348	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	D;T	0.83992	-1.79;-1.37	5.78	5.78	0.91487	.	0.098086	0.64402	D	0.000001	D	0.90198	0.6936	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.989	D;P;P	0.69142	0.962;0.798;0.798	D	0.91143	0.4947	10	0.72032	D	0.01	.	14.9759	0.71273	1.0:0.0:0.0:0.0	.	2218;2331;2331	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	L	2331;2218	ENSP00000261866:F2331L;ENSP00000445278:F2218L	ENSP00000261866:F2331L	F	-	1	0	SPG11	42645352	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	8.780000	0.91799	2.333000	0.79357	0.482000	0.46254	TTC		0.517	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	27	0	0	0	1	0	6	27				
ADAM23	8745	broad.mit.edu	37	2	207425854	207425854	+	Missense_Mutation	SNP	G	G	A	rs377701138		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207425854G>A	ENST00000264377.3	+	12	1500	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADAM23_ENST00000374415.3_Missense_Mutation_p.R391Q|ADAM23_ENST00000374416.1_Missense_Mutation_p.R391Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	391	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTCTTAAGGCGGGTGACATTT	0.428																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(1171-1173)cGg>cAg		ADAM metallopeptidase domain 23		G	GLN/ARG	0,4406		0,0,2203	124.0	123.0	124.0		1172	5.9	1.0	2		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM23	NM_003812.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	391/833	207425854	1,13005	2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207425854G>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1172G>A	2.37:g.207425854G>A	ENSP00000264377:p.Arg391Gln					ADAM23_ENST00000374416.1_Missense_Mutation_p.R391Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.R391Q	p.R391Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	12	1500	+			391			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1172G>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823082	0.71143	0.0	1.16E-4	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10477	2.87;2.87;2.87	5.92	5.92	0.95590	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.222801	0.31784	N	0.007071	T	0.05960	0.0155	N	0.08118	0	0.34626	D	0.719112	P	0.38922	0.651	B	0.36534	0.227	T	0.19976	-1.0289	10	0.59425	D	0.04	.	9.2062	0.37291	0.1202:0.0:0.8798:0.0	.	391	O75077	ADA23_HUMAN	Q	391;391;285;391	ENSP00000264377:R391Q;ENSP00000363537:R391Q;ENSP00000363536:R391Q	ENSP00000264377:R391Q	R	+	2	0	ADAM23	207134099	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.894000	0.63206	2.804000	0.96469	0.655000	0.94253	CGG		0.428	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		3	54	0	0	0	1	0	3	54				
LIG4	3981	broad.mit.edu	37	13	108863523	108863523	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:108863523G>A	ENST00000356922.4	-	2	366	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LIG4_ENST00000442234.1_Missense_Mutation_p.R32C|LIG4_ENST00000405925.1_Missense_Mutation_p.R32C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	32					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCTGCACGTCCTTTACTT	0.373								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(94-96)Cgt>Tgt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							45.0	47.0	46.0					13																	108863523		2203	4297	6500	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863523G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.94C>T	13.37:g.108863523G>A	ENSP00000349393:p.Arg32Cys					LIG4_ENST00000405925.1_Missense_Mutation_p.R32C|LIG4_ENST00000442234.1_Missense_Mutation_p.R32C	p.R32C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	366	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		32					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.94C>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937607	0.34189	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.31247	1.5;1.5;1.5	6.15	5.31	0.75309	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.27773	-1.0064	10	0.62326	D	0.03	.	9.634	0.39795	0.0703:0.0:0.7895:0.1402	.	32	P49917	DNLI4_HUMAN	C	32	ENSP00000385955:R32C;ENSP00000402030:R32C;ENSP00000349393:R32C	ENSP00000349393:R32C	R	-	1	0	LIG4	107661524	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.967000	0.63722	1.622000	0.50330	0.643000	0.83706	CGT		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		14	41	0	0	0	1	0	14	41				
TRAPPC9	83696	broad.mit.edu	37	8	141321377	141321377	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141321377G>A	ENST00000438773.2	-	10	1725	c.1592C>T	c.(1591-1593)cCg>cTg	p.P531L	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P629L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P522L	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	531					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAAGGGCACCGGTGGCAGGGT	0.587																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1885-1887)cCg>cTg		trafficking protein particle complex 9							71.0	70.0	70.0					8																	141321377		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141321377G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1592C>T	8.37:g.141321377G>A	ENSP00000405060:p.Pro531Leu					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P531L|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P522L	p.P629L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			10	1900	-			531					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.1886C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653077	0.67472	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.985;0.988;0.985	T	0.66312	-0.5955	9	0.15499	T	0.54	.	19.7175	0.96129	0.0:0.0:1.0:0.0	.	531;522;629	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	L	629;522;531	.	ENSP00000373978:P522L	P	-	2	0	TRAPPC9	141390559	1.000000	0.71417	0.295000	0.24960	0.076000	0.17211	8.365000	0.90108	2.831000	0.97527	0.650000	0.86243	CCG		0.587	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		23	53	0	0	0	1	0	23	53				
CDKN1A	1026	broad.mit.edu	37	6	36651973	36651973	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:36651973G>A	ENST00000405375.1	+	2	330	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R66H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R32H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R32H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	32					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CAGCTGAGCCGCGACTGTGAT	0.652																																						ENST00000405375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(94-96)cGc>cAc		cyclin-dependent kinase inhibitor 1A (p21, Cip1)							40.0	37.0	38.0					6																	36651973		2203	4300	6503	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651973G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.95G>A	6.37:g.36651973G>A	ENSP00000384849:p.Arg32His					CDKN1A_ENST00000244741.5_Missense_Mutation_p.R32H|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R32H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R66H	p.R32H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN			2	330	+			32					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.95G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043609	0.36085	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.06	3.14	0.36123	.	0.293065	0.25285	N	0.031780	D	0.84862	0.5566	M	0.70275	2.135	0.25663	N	0.985977	D;D;D	0.89917	1.0;0.998;0.986	D;P;P	0.67900	0.954;0.863;0.594	T	0.76105	-0.3081	10	0.62326	D	0.03	-10.5929	6.2764	0.20983	0.2247:0.0:0.7753:0.0	.	66;32;32	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	H	66;32;32;32	ENSP00000409259:R66H;ENSP00000244741:R32H;ENSP00000384849:R32H;ENSP00000362815:R32H	ENSP00000244741:R32H	R	+	2	0	CDKN1A	36759951	0.564000	0.26602	0.281000	0.24762	0.063000	0.16089	0.698000	0.25571	1.379000	0.46325	0.561000	0.74099	CGC		0.652	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467		17	41	0	0	0	1	0	17	41				
AMY2B	280	broad.mit.edu	37	1	104117870	104117870	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117870A>G	ENST00000361355.4	+	8	1520	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGGGTTTCATGCCTTCTGA	0.418																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(904-906)Atg>Gtg		amylase, alpha 2B (pancreatic)							287.0	288.0	288.0					1																	104117870		2203	4297	6500	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117870A>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.904A>G	1.37:g.104117870A>G	ENSP00000354610:p.Met302Val					AMY2B_ENST00000491397.1_3'UTR	p.M302V	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1520	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	302					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.904A>G	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	6.945	0.544147	0.13312	.	.	ENSG00000240038	ENST00000361355	D	0.98221	-4.8	5.26	4.14	0.48551	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.260843	0.47852	N	0.000215	D	0.93667	0.7977	L	0.47016	1.485	0.43841	D	0.996425	B	0.15719	0.014	B	0.21917	0.037	D	0.90306	0.4333	10	0.33141	T	0.24	.	10.4005	0.44227	0.8599:0.0:0.1401:0.0	.	302	P19961	AMY2B_HUMAN	V	302	ENSP00000354610:M302V	ENSP00000354610:M302V	M	+	1	0	AMY2B	103919393	0.994000	0.37717	1.000000	0.80357	0.960000	0.62799	2.200000	0.42724	0.790000	0.33803	-0.675000	0.03792	ATG		0.418	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		8	407	0	0	0	1	0	8	407				
DCP2	167227	broad.mit.edu	37	5	112327915	112327915	+	Silent	SNP	T	T	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:112327915T>C	ENST00000389063.2	+	3	501	c.303T>C	c.(301-303)ggT>ggC	p.G101G	DCP2_ENST00000515408.1_Silent_p.G101G|DCP2_ENST00000543319.1_Intron	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	101	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAACATATGGTGCAATTATTC	0.328																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(301-303)ggT>ggC		decapping mRNA 2							148.0	146.0	147.0					5																	112327915		2202	4300	6502	SO:0001819	synonymous_variant	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112327915T>C	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.303T>C	5.37:g.112327915T>C						DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.G101G	p.G101G	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	3	501	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	101			Nudix hydrolase.		C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	ENST00000389063.2	37	c.303T>C	CCDS34210.1																																																																																				0.328	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		23	76	0	0	0	1	0	23	76				
PCDH17	27253	broad.mit.edu	37	13	58208512	58208512	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:58208512G>T	ENST00000377918.3	+	1	1858	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	611	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(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCACTGTGCGCGCCCTAGAC	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1831-1833)cGc>cTc		protocadherin 17							34.0	33.0	34.0					13																	58208512		2201	4297	6498	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208512G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1832G>T	13.37:g.58208512G>T	ENSP00000367151:p.Arg611Leu						p.R611L	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1858	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	611			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1832G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782353	0.49891	.	.	ENSG00000118946	ENST00000377918	T	0.52754	0.65	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	L	0.49571	1.57	0.53688	D	0.999979	P;D	0.57257	0.929;0.979	P;P	0.62885	0.766;0.908	T	0.58736	-0.7584	9	.	.	.	.	19.0883	0.93215	0.0:0.0:1.0:0.0	.	611;611	O14917-2;O14917	.;PCD17_HUMAN	L	611	ENSP00000367151:R611L	.	R	+	2	0	PCDH17	57106513	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.685000	0.68204	2.500000	0.84329	0.561000	0.74099	CGC		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	86	1	0	0.150653	1	0.151212	4	86				
CYP4V2	285440	broad.mit.edu	37	4	187130278	187130278	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:187130278C>T	ENST00000378802.4	+	10	1561	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	419					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACTGAAGCCGTCATCATTC	0.502																																						ENST00000378802.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20						c.(1255-1257)gcC>gcT		cytochrome P450, family 4, subfamily V, polypeptide 2							118.0	110.0	112.0					4																	187130278		2203	4300	6503	SO:0001819	synonymous_variant	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130278C>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1257C>T	4.37:g.187130278C>T						CYP4V2_ENST00000502665.1_3'UTR	p.A419A	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	10	1561	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	419					B7U6W2|Q6ZTM4	Silent	SNP	ENST00000378802.4	37	c.1257C>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	C	6.727	0.502944	0.12822	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.20981	0.0505	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11518	-1.0584	4	.	.	.	.	5.8587	0.18734	0.1069:0.5144:0.1816:0.1972	.	.	.	.	L	18	.	.	P	+	2	0	KLKB1	187367272	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-2.810000	0.00755	-2.524000	0.00495	0.655000	0.94253	CCG		0.502	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		6	133	0	0	0	1	0	6	133				
EPHB2	2048	broad.mit.edu	37	1	23234628	23234628	+	Silent	SNP	C	C	T	rs141632768		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:23234628C>T	ENST00000400191.3	+	12	2337	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	EPHB2_ENST00000374627.1_Silent_p.D768D|EPHB2_ENST00000374630.3_Silent_p.D773D|EPHB2_ENST00000374632.3_Silent_p.D774D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTAGAGGACGATACCTCAG	0.567																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2317-2319)gaC>gaT		EPH receptor B2		C	,	0,4406		0,0,2203	108.0	92.0	97.0		2322,2319	-6.3	0.8	1	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EPHB2	NM_004442.6,NM_017449.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	774/988,773/987	23234628	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23234628C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2319C>T	1.37:g.23234628C>T						EPHB2_ENST00000374627.1_Silent_p.D768D|EPHB2_ENST00000374630.3_Silent_p.D773D|EPHB2_ENST00000374632.3_Silent_p.D774D	p.D773D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	12	2337	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	773			Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2319C>T																																																																																					0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		23	62	0	0	0	1	0	23	62				
UNC13A	23025	broad.mit.edu	37	19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A	rs566299244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17766855G>A	ENST00000519716.2	-	10	1119	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	UNC13A_ENST00000428389.2_Missense_Mutation_p.R462C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17426	0.0		0.0	False		,,,				2504	0.001					ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1384-1386)Cgc>Tgc		unc-13 homolog A (C. elegans)							34.0	40.0	38.0					19																	17766855		2131	4195	6326	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766855G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1120C>T	19.37:g.17766855G>A	ENSP00000429562:p.Arg374Cys					UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C	p.R462C			Q9UPW8	UN13A_HUMAN			11	1383	-			374					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1384C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654560	0.47467	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81247	-1.45;-1.47;-1.45;-1.33;-1.33;-1.45	4.36	3.23	0.37069	.	0.213324	0.30519	U	0.009445	T	0.58637	0.2136	N	0.08118	0	0.35405	D	0.791911	P	0.51537	0.946	B	0.37422	0.249	T	0.72144	-0.4379	10	0.54805	T	0.06	-7.1945	10.7108	0.45982	0.0:0.1947:0.8053:0.0	.	374	Q9UPW8	UN13A_HUMAN	C	374;462;374;374;374;374	ENSP00000429562:R374C;ENSP00000400409:R462C;ENSP00000252773:R374C;ENSP00000447236:R374C;ENSP00000447572:R374C;ENSP00000446831:R374C	ENSP00000252773:R374C	R	-	1	0	UNC13A	17627855	0.036000	0.19791	0.997000	0.53966	0.981000	0.71138	0.219000	0.17641	2.123000	0.65237	0.491000	0.48974	CGC		0.652	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		3	7	0	0	0	1	0	3	7				
C1orf123	54987	broad.mit.edu	37	1	53681698	53681698	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:53681698C>T	ENST00000294360.4	-	7	411	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	RP5-1024G6.2_ENST00000452466.1_RNA|C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	124						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						AAGGCTGTCCCTGACTCCACA	0.517																																						ENST00000294360.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						c.(370-372)Ggg>Agg		chromosome 1 open reading frame 123							144.0	133.0	137.0					1																	53681698		2203	4300	6503	SO:0001583	missense	54987							g.chr1:53681698C>T	BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.370G>A	1.37:g.53681698C>T	ENSP00000294360:p.Gly124Arg					C1orf123_ENST00000470385.1_5'UTR	p.G124R	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN			7	411	-			124						Missense_Mutation	SNP	ENST00000294360.4	37	c.370G>A	CCDS576.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349427	0.24426	.	.	ENSG00000162384	ENST00000294360	.	.	.	5.7	3.84	0.44239	.	0.213654	0.47455	D	0.000236	T	0.65893	0.2735	M	0.85299	2.745	0.80722	D	1	B;B	0.27351	0.071;0.176	B;B	0.30716	0.105;0.119	T	0.69409	-0.5153	9	0.66056	D	0.02	-21.1711	10.9102	0.47103	0.0:0.8459:0.0:0.1541	.	94;124	D3DQ38;Q9NWV4	.;CA123_HUMAN	R	124	.	ENSP00000294360:G124R	G	-	1	0	C1orf123	53454286	0.977000	0.34250	0.879000	0.34478	0.045000	0.14185	2.499000	0.45372	1.411000	0.46957	0.655000	0.94253	GGG		0.517	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024751.1	NM_017887		39	107	0	0	0	1	0	39	107				
FGD3	89846	broad.mit.edu	37	9	95766401	95766401	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95766401C>T	ENST00000375482.3	+	5	1158	c.662C>T	c.(661-663)aCg>aTg	p.T221M	FGD3_ENST00000337352.6_Missense_Mutation_p.T221M|FGD3_ENST00000416701.2_Missense_Mutation_p.T221M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	221	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGCTGAAGACGCGGATCACG	0.587											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(661-663)aCg>aTg		FYVE, RhoGEF and PH domain containing 3							71.0	74.0	73.0					9																	95766401		2092	4247	6339	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95766401C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.662C>T	9.37:g.95766401C>T	ENSP00000364631:p.Thr221Met		OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	FGD3_ENST00000416701.2_Missense_Mutation_p.T221M|FGD3_ENST00000337352.6_Missense_Mutation_p.T221M	p.T221M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			5	1158	+			221			DH.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.662C>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918998	0.52546	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.65178	-0.14;-0.14;-0.14	4.62	0.418	0.16429	Dbl homology (DH) domain (5);	0.611579	0.13686	N	0.369833	T	0.69975	0.3171	M	0.69823	2.125	0.09310	N	0.999999	D;D;D	0.76494	0.978;0.999;0.991	P;D;P	0.66084	0.84;0.941;0.9	T	0.58103	-0.7695	10	0.87932	D	0	.	3.2463	0.06798	0.145:0.5621:0.1324:0.1605	.	221;221;221	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	M	221	ENSP00000364631:T221M;ENSP00000413833:T221M;ENSP00000336914:T221M	ENSP00000336914:T221M	T	+	2	0	FGD3	94806222	0.001000	0.12720	0.001000	0.08648	0.862000	0.49288	-0.074000	0.11450	-0.027000	0.13873	0.655000	0.94253	ACG		0.587	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		24	83	0	0	0	1	0	24	83				
ABCG1	9619	broad.mit.edu	37	21	43693446	43693446	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43693446C>T	ENST00000361802.2	+	4	583	c.438C>T	c.(436-438)aaC>aaT	p.N146N	ABCG1_ENST00000347800.2_Silent_p.N143N|ABCG1_ENST00000343687.3_Silent_p.N157N|ABCG1_ENST00000340588.4_Silent_p.N254N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.N148N|ABCG1_ENST00000398437.1_Silent_p.N292N|ABCG1_ENST00000398449.3_Silent_p.N146N	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	146	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCCTCATCAACGGCCTGCCCC	0.652																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(874-876)aaC>aaT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						64.0	68.0	67.0					21																	43693446		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43693446C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.438C>T	21.37:g.43693446C>T						ABCG1_ENST00000347800.2_Silent_p.N143N|ABCG1_ENST00000343687.3_Silent_p.N157N|ABCG1_ENST00000398449.3_Silent_p.N146N|ABCG1_ENST00000340588.4_Silent_p.N254N|ABCG1_ENST00000361802.2_Silent_p.N146N|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.N148N	p.N292N			P45844	ABCG1_HUMAN			5	1024	+			146			ABC transporter.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.876C>T	CCDS13682.1																																																																																				0.652	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		6	129	0	0	0	1	0	6	129				
CAPZB	832	broad.mit.edu	37	1	19666098	19666098	+	3'UTR	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:19666098A>G	ENST00000375142.1	-	0	904				CAPZB_ENST00000264203.3_Missense_Mutation_p.F249S|CAPZB_ENST00000433834.1_Missense_Mutation_p.F278L|CAPZB_ENST00000401084.2_Missense_Mutation_p.F249L|CAPZB_ENST00000375144.1_Missense_Mutation_p.F237L	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta						actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGTCTGCAAAAGTCTGCACA	0.522																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(745-747)tTt>tCt		capping protein (actin filament) muscle Z-line, beta							182.0	179.0	180.0					1																	19666098		1915	4137	6052	SO:0001624	3_prime_UTR_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19666098A>G	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.*24T>C	1.37:g.19666098A>G						CAPZB_ENST00000433834.1_Missense_Mutation_p.F278L|CAPZB_ENST00000401084.2_Missense_Mutation_p.F249L|CAPZB_ENST00000375144.1_Missense_Mutation_p.F237L|CAPZB_ENST00000375142.1_3'UTR	p.F249S			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	9	1239	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	0					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	c.746T>C	CCDS55579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.09|12.09	1.833311|1.833311	0.32421|0.32421	.|.	.|.	ENSG00000077549|ENSG00000077549	ENST00000401084;ENST00000375144;ENST00000433834;ENST00000375145|ENST00000264203	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.220504|0.220504	0.48286|0.48286	D|D	0.000196|0.000196	T|T	0.28067|0.28067	0.0692|0.0692	N|N	0.01874|0.01874	-0.695|-0.695	0.80722|0.80722	D|D	1|1	B;B;B|B	0.02656|0.02656	0.0;0.0;0.0|0.0	B;B;B|B	0.04013|0.06405	0.001;0.0;0.0|0.002	T|T	0.17623|0.17623	-1.0363|-1.0363	9|9	0.09084|0.23302	T|T	0.74|0.38	-15.3014|-15.3014	15.4367|15.4367	0.75152|0.75152	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	278;249;237|249	B1AK88;P47756-2;B1AK87|B1AK85	.;.;.|.	L|S	249;237;278;311|249	.|.	ENSP00000364286:F237L|ENSP00000264203:F249S	F|F	-|-	1|2	0|0	CAPZB|CAPZB	19538685|19538685	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.905000|0.905000	0.53344|0.53344	6.422000|6.422000	0.73357|0.73357	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	TTT|TTT		0.522	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			7	203	0	0	0	1	0	7	203				
RCOR2	283248	broad.mit.edu	37	11	63676558	63676558	+	IGR	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63676558C>T	ENST00000301459.4	-	0	2604				MARK2_ENST00000502399.3_Missense_Mutation_p.T729M|MARK2_ENST00000350490.7_Missense_Mutation_p.T660M|MARK2_ENST00000402010.2_Missense_Mutation_p.T739M|RCOR2_ENST00000473926.2_5'Flank|MARK2_ENST00000413835.2_Missense_Mutation_p.T685M|MARK2_ENST00000315032.8_Missense_Mutation_p.T730M|MARK2_ENST00000377810.3_Missense_Mutation_p.T642M|MARK2_ENST00000513765.2_Missense_Mutation_p.T706M|MARK2_ENST00000361128.5_Missense_Mutation_p.T670M|MARK2_ENST00000508192.1_Missense_Mutation_p.T675M|MARK2_ENST00000509502.2_Missense_Mutation_p.T696M|MARK2_ENST00000425897.2_Missense_Mutation_p.T650M|MARK2_ENST00000408948.3_Missense_Mutation_p.T642M|MARK2_ENST00000377809.4_Missense_Mutation_p.T724M	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ATGCACGGCACGCCGGGCCAC	0.612																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2215-2217)aCg>aTg		MAP/microtubule affinity-regulating kinase 2							93.0	81.0	85.0					11																	63676558		2201	4297	6498	SO:0001628	intergenic_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63676558C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472		11.37:g.63676558C>T						MARK2_ENST00000509502.2_Missense_Mutation_p.T696M|MARK2_ENST00000361128.5_Missense_Mutation_p.T670M|MARK2_ENST00000315032.8_Missense_Mutation_p.T730M|MARK2_ENST00000350490.7_Missense_Mutation_p.T660M|MARK2_ENST00000502399.3_Missense_Mutation_p.T729M|MARK2_ENST00000508192.1_Missense_Mutation_p.T675M|MARK2_ENST00000408948.3_Missense_Mutation_p.T642M|MARK2_ENST00000377809.4_Missense_Mutation_p.T724M|MARK2_ENST00000377810.3_Missense_Mutation_p.T642M|MARK2_ENST00000413835.2_Missense_Mutation_p.T685M|MARK2_ENST00000425897.2_Missense_Mutation_p.T650M|MARK2_ENST00000513765.2_Missense_Mutation_p.T706M	p.T739M	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			19	2795	+			739			KA1.		Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.2216C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710278	0.68730	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.43	4.43	0.53597	Kinase-associated KA1 (3);	0.373958	0.24904	N	0.034668	T	0.37865	0.1019	N	0.22421	0.69	0.36675	D	0.878723	P;P;P;P;P;P	0.45594	0.639;0.862;0.753;0.726;0.639;0.753	B;P;P;B;B;P	0.45946	0.302;0.498;0.498;0.437;0.302;0.498	T	0.52616	-0.8552	10	0.87932	D	0	.	16.369	0.83346	0.0:1.0:0.0:0.0	.	650;696;660;670;739;675	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	M	739;730;724;685;642;675;670;660;731;696;706;642;650	ENSP00000385751:T739M;ENSP00000326632:T730M;ENSP00000367040:T724M;ENSP00000389184:T685M;ENSP00000367041:T642M;ENSP00000425765:T675M;ENSP00000355091:T670M;ENSP00000294247:T660M;ENSP00000423974:T696M;ENSP00000421075:T706M;ENSP00000386128:T642M;ENSP00000415494:T650M	ENSP00000326632:T730M	T	+	2	0	MARK2	63433134	0.001000	0.12720	0.995000	0.50966	0.981000	0.71138	1.392000	0.34486	2.464000	0.83262	0.555000	0.69702	ACG		0.612	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		4	100	0	0	0	1	0	4	100				
TAF1	6872	broad.mit.edu	37	X	70613207	70613207	+	Silent	SNP	A	A	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70613207A>G	ENST00000373790.4	+	21	3156	c.3105A>G	c.(3103-3105)gaA>gaG	p.E1035E	TAF1_ENST00000449580.1_Silent_p.E1035E|TAF1_ENST00000276072.3_Silent_p.E1056E|TAF1_ENST00000423759.1_Silent_p.E1056E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1035					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGTCAACAGAACAGGCTCGTT	0.458																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3103-3105)gaA>gaG		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							132.0	119.0	124.0					X																	70613207		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613207A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3105A>G	X.37:g.70613207A>G						TAF1_ENST00000276072.3_Silent_p.E1056E|TAF1_ENST00000373790.4_Silent_p.E1035E|TAF1_ENST00000423759.1_Silent_p.E1056E	p.E1035E			P21675	TAF1_HUMAN			21	3156	+	Renal(35;0.156)	all_lung(315;0.000321)	1035					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.3105A>G	CCDS35325.1																																																																																				0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		6	72	0	0	0	1	0	6	72				
PTPRS	5802	broad.mit.edu	37	19	5245857	5245857	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:5245857C>T	ENST00000587303.1	-	9	1017	c.918G>A	c.(916-918)tcG>tcA	p.S306S	PTPRS_ENST00000357368.4_Silent_p.S306S|PTPRS_ENST00000592099.1_Silent_p.S293S|PTPRS_ENST00000372412.4_Silent_p.S307S|PTPRS_ENST00000262963.6_Silent_p.S302S|PTPRS_ENST00000348075.2_Silent_p.S293S|PTPRS_ENST00000353284.2_Silent_p.S293S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.S293S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	306	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGTAGTTGGCCGAGTCCTTGA	0.617																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(919-921)tcG>tcA		protein tyrosine phosphatase, receptor type, S							87.0	71.0	76.0					19																	5245857		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5245857C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.918G>A	19.37:g.5245857C>T						PTPRS_ENST00000592099.1_Silent_p.S293S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Silent_p.S306S|PTPRS_ENST00000357368.4_Silent_p.S306S|PTPRS_ENST00000353284.2_Silent_p.S293S|PTPRS_ENST00000348075.2_Silent_p.S293S|PTPRS_ENST00000262963.6_Silent_p.S302S|PTPRS_ENST00000588012.1_Silent_p.S293S	p.S307S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	10	1154	-			306			Ig-like C2-type 3.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.921G>A	CCDS45930.1																																																																																				0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			7	27	0	0	0	1	0	7	27				
GNB1	2782	broad.mit.edu	37	1	1720558	1720558	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1720558G>T	ENST00000378609.4	-	10	1181	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	284					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCAAGGAGGAGGCGCCCGCTC	0.577											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(850-852)Ctc>Atc		guanine nucleotide binding protein (G protein), beta polypeptide 1							99.0	93.0	95.0					1																	1720558		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720558G>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.850C>A	1.37:g.1720558G>T	ENSP00000367872:p.Leu284Ile		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598		p.L284I	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	10	1181	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	284					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.850C>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098768	0.94197	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.61742	0.08	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	L	0.48935	1.535	0.80722	D	1	P	0.37663	0.604	P	0.59948	0.866	T	0.66460	-0.5918	10	0.35671	T	0.21	-9.8798	18.4248	0.90605	0.0:0.0:1.0:0.0	.	284	P62873	GBB1_HUMAN	I	284;184;284	ENSP00000367872:L284I	ENSP00000367869:L284I	L	-	1	0	GNB1	1710418	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.549000	0.73900	2.594000	0.87642	0.655000	0.94253	CTC		0.577	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		14	47	1	0	1.49906e-05	1	1.53742e-05	14	47				
TPCN2	219931	broad.mit.edu	37	11	68822732	68822732	+	Missense_Mutation	SNP	G	G	A	rs199743860		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68822732G>A	ENST00000294309.3	+	4	442	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R114H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	114					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGCGCTACCGCGCTGCTCCC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.0					ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(340-342)cGc>cAc		two pore segment channel 2							118.0	110.0	113.0					11																	68822732		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822732G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.341G>A	11.37:g.68822732G>A	ENSP00000294309:p.Arg114His					TPCN2_ENST00000542467.1_Missense_Mutation_p.R114H|TPCN2_ENST00000442692.2_3'UTR	p.R114H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	442	+			114					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.341G>A	CCDS8189.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.81	3.225571	0.58668	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97279	-4.3;-4.32	4.96	4.96	0.65561	.	0.072463	0.49916	D	0.000123	D	0.97879	0.9303	M	0.66939	2.045	0.45227	D	0.998231	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.951	D	0.97223	0.9879	10	0.27082	T	0.32	-20.3487	18.1761	0.89761	0.0:0.0:1.0:0.0	.	114;114	E7ETX0;Q8NHX9	.;TPC2_HUMAN	H	44;114;114	ENSP00000294309:R114H;ENSP00000445551:R114H	ENSP00000294309:R114H	R	+	2	0	TPCN2	68579308	1.000000	0.71417	0.672000	0.29872	0.005000	0.04900	5.192000	0.65115	2.471000	0.83476	0.561000	0.74099	CGC		0.622	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		39	93	0	0	0	1	0	39	93				
GPR153	387509	broad.mit.edu	37	1	6314755	6314755	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6314755G>A	ENST00000377893.2	-	2	470	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGGCGCTGCCGCCGCAGCTGC	0.612																																						ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(211-213)Cgg>Tgg		G protein-coupled receptor 153							125.0	111.0	116.0					1																	6314755		2203	4300	6503	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314755G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.211C>T	1.37:g.6314755G>A	ENSP00000367125:p.Arg71Trp						p.R71W	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	2	470	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	71					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.211C>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823444	0.71143	.	.	ENSG00000158292	ENST00000377893	T	0.37915	1.17	5.42	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.055375	0.64402	D	0.000002	T	0.43144	0.1234	L	0.29908	0.895	0.38674	D	0.952374	D	0.89917	1.0	D	0.91635	0.999	T	0.43130	-0.9410	10	0.87932	D	0	-42.0087	7.0403	0.25017	0.0809:0.0:0.603:0.3161	.	71	Q6NV75	GP153_HUMAN	W	71	ENSP00000367125:R71W	ENSP00000367125:R71W	R	-	1	2	GPR153	6237342	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.716000	0.54904	0.614000	0.30107	0.557000	0.71058	CGG		0.612	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			46	106	0	0	0	1	0	46	106				
GLCCI1	113263	broad.mit.edu	37	7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A	rs374066040		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1480-1482)Gtt>Att		glucocorticoid induced transcript 1		G	ILE/VAL	0,4406		0,0,2203	191.0	208.0	203.0		1480	3.5	0.6	7		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLCCI1	NM_138426.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	494/548	8126004	1,13005	2203	4300	6503	SO:0001583	missense	113263							g.chr7:8126004G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1480G>A	7.37:g.8126004G>A	ENSP00000223145:p.Val494Ile						p.V494I	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2037	+		Ovarian(82;0.0608)	494					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1480G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155287	0.38021	0.0	1.16E-4	ENSG00000106415	ENST00000223145	.	.	.	5.32	3.52	0.40303	.	0.448294	0.24215	N	0.040481	T	0.39886	0.1095	N	0.22421	0.69	0.42198	D	0.991752	B	0.27971	0.196	B	0.14578	0.011	T	0.22730	-1.0208	9	0.35671	T	0.21	-30.1131	11.7827	0.52023	0.1412:0.0:0.8588:0.0	.	494	Q86VQ1	GLCI1_HUMAN	I	494	.	ENSP00000223145:V494I	V	+	1	0	GLCCI1	8092529	1.000000	0.71417	0.644000	0.29465	0.179000	0.23085	2.871000	0.48459	0.941000	0.37499	0.655000	0.94253	GTT		0.552	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		38	408	0	0	0	1	0	38	408				
ZFHX4	79776	broad.mit.edu	37	8	77766738	77766738	+	Silent	SNP	G	G	A	rs373464374		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:77766738G>A	ENST00000521891.2	+	10	8029	c.7581G>A	c.(7579-7581)ccG>ccA	p.P2527P	ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000050961.6_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCACTCTCCGTTCTTGGAAA	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7579-7581)ccG>ccA		zinc finger homeobox 4							158.0	158.0	158.0					8																	77766738		2024	4197	6221	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766738G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7581G>A	8.37:g.77766738G>A		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P|ZFHX4_ENST00000050961.6_Silent_p.P2482P	p.P2527P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8029	+			2482					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7581G>A	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	214	0	0	0	1	0	8	214				
ACBD3	64746	broad.mit.edu	37	1	226334447	226334447	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226334447C>T	ENST00000366812.5	-	8	1505	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	484	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAGTCCCGTCGGTACACAGG	0.473																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1450-1452)cGa>cAa		acyl-CoA binding domain containing 3							185.0	153.0	164.0					1																	226334447		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226334447C>T	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1451G>A	1.37:g.226334447C>T	ENSP00000355777:p.Arg484Gln						p.R484Q	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	8	1505	-	Breast(184;0.158)		484			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1451G>A	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457651	0.96240	.	.	ENSG00000182827	ENST00000366812	T	0.51325	0.71	5.74	4.83	0.62350	GOLD (2);	0.054102	0.64402	N	0.000001	T	0.76090	0.3939	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83196	-0.0081	10	0.87932	D	0	-7.8352	14.4906	0.67647	0.0:0.9299:0.0:0.0701	.	484	Q9H3P7	GCP60_HUMAN	Q	484	ENSP00000355777:R484Q	ENSP00000355777:R484Q	R	-	2	0	ACBD3	224401070	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.426000	0.80270	1.437000	0.47472	0.491000	0.48974	CGA		0.473	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		5	138	0	0	0	1	0	5	138				
AGAP3	116988	broad.mit.edu	37	7	150839616	150839616	+	Missense_Mutation	SNP	C	C	T	rs368016856		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839616C>T	ENST00000463381.1	+	14	1671	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	AGAP3_ENST00000397238.2_Missense_Mutation_p.P723L	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	687	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATGACTGGCCGCCTGAGCTG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17839	0.001		0.0	False		,,,				2504	0.0					ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2167-2169)cCg>cTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3		C	LEU/PRO	0,4168		0,0,2084	48.0	54.0	52.0		2168	5.4	1.0	7		52	1,8449		0,1,4224	no	missense	AGAP3	NM_031946.4	98	0,1,6308	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	723/912	150839616	1,12617	2084	4225	6309	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839616C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1175C>T	7.37:g.150839616C>T	ENSP00000418016:p.Pro392Leu					AGAP3_ENST00000463381.1_Missense_Mutation_p.P392L	p.P723L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			16	2168	+			687			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2168C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.618813|3.618813	0.66787|0.66787	0.0|0.0	1.18E-4|1.18E-4	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.41758|.	0.99;0.99|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76442|0.76442	0.3988|0.3988	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.995;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.98;0.925;0.999|.	T|T	0.76132|0.76132	-0.3071|-0.3071	10|5	0.87932|.	D|.	0|.	.|.	18.0928|18.0928	0.89479|0.89479	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	687;222;723;392|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	L|C	392;222;723;687|216	ENSP00000418016:P392L;ENSP00000380413:P723L|.	ENSP00000334157:P687L|.	P|R	+|+	2|1	0|0	AGAP3|AGAP3	150470549|150470549	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.152000|0.152000	0.21847|0.21847	7.690000|7.690000	0.84178|0.84178	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.652	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		22	67	0	0	0	1	0	22	67				
EVI5L	115704	broad.mit.edu	37	19	7928473	7928473	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7928473C>T	ENST00000270530.4	+	19	2466	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	EVI5L_ENST00000538904.2_Missense_Mutation_p.P768L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	757					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTGTCCCCGCGCGATGCG	0.697																																						ENST00000270530.4																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(2269-2271)cCg>cTg		ecotropic viral integration site 5-like							21.0	16.0	17.0					19																	7928473		2185	4279	6464	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7928473C>T	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2270C>T	19.37:g.7928473C>T	ENSP00000270530:p.Pro757Leu					EVI5L_ENST00000538904.2_Missense_Mutation_p.P768L	p.P757L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN			19	2466	+			757					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.2270C>T	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408518	0.42715	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05382	3.45;3.45	4.37	4.37	0.52481	.	0.084417	0.47455	D	0.000222	T	0.10937	0.0267	N	0.14661	0.345	0.58432	D	0.999999	P;D	0.89917	0.491;1.0	B;D	0.81914	0.041;0.995	T	0.45600	-0.9250	10	0.22109	T	0.4	-68.4257	14.4303	0.67246	0.0:1.0:0.0:0.0	.	768;757	B9A6I9;Q96CN4	.;EVI5L_HUMAN	L	757;768	ENSP00000270530:P757L;ENSP00000445905:P768L	ENSP00000270530:P757L	P	+	2	0	EVI5L	7834473	0.845000	0.29573	0.999000	0.59377	0.073000	0.16967	4.372000	0.59530	2.271000	0.75665	0.491000	0.48974	CCG		0.697	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		6	2	0	0	0	1	0	6	2				
DCTN1	1639	broad.mit.edu	37	2	74605228	74605228	+	Missense_Mutation	SNP	C	C	T	rs74768853		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:74605228C>T	ENST00000361874.3	-	2	495	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	DCTN1_ENST00000409567.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409868.1_Missense_Mutation_p.V43M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V43M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V60M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	60	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGAATCACGCCTACCCAT	0.532																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(178-180)Gtg>Atg		dynactin 1							198.0	157.0	171.0					2																	74605228		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74605228C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.178G>A	2.37:g.74605228C>T	ENSP00000354791:p.Val60Met					DCTN1_ENST00000409567.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409868.1_Missense_Mutation_p.V43M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V43M	p.V60M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			2	495	-			60			CAP-Gly.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.178G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240223	0.79912	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000409240;ENST00000409868;ENST00000409567;ENST00000458655;ENST00000454119;ENST00000417090;ENST00000437375;ENST00000413111;ENST00000421392;ENST00000440727	D;D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.14	5.14	0.70334	Cytoskeleton-associated protein, Gly-rich domain (4);Cytoskeleton-associated protein, Gly-rich conserved site (1);	0.000000	0.39083	N	0.001478	D	0.95367	0.8496	H	0.97587	4.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.982;1.0	D;D;P;D	0.97110	1.0;0.999;0.829;0.993	D	0.97121	0.9811	10	0.87932	D	0	-11.0461	17.3563	0.87336	0.0:1.0:0.0:0.0	.	60;43;60;60	E9PGE1;E9PFS5;Q14203;A8MY36	.;.;DCTN1_HUMAN;.	M	60;60;43;43;43;60;67;43;64;43;43;43;43	ENSP00000354791:V60M;ENSP00000377571:V60M;ENSP00000386406:V43M;ENSP00000387327:V43M;ENSP00000386843:V60M;ENSP00000414315:V67M;ENSP00000404038:V43M;ENSP00000402509:V64M;ENSP00000395312:V43M;ENSP00000413268:V43M;ENSP00000409363:V43M;ENSP00000400059:V43M	ENSP00000354791:V60M	V	-	1	0	DCTN1	74458736	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.985000	0.70556	2.392000	0.81423	0.455000	0.32223	GTG		0.532	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		18	59	0	0	0	1	0	18	59				
YTHDF2	51441	broad.mit.edu	37	1	29069851	29069851	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:29069851C>T	ENST00000373812.3	+	4	1431	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	YTHDF2_ENST00000541996.1_Missense_Mutation_p.R307C|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R357C	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	357	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCGGAACCGTGGCAGTGG	0.582																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1069-1071)Cgt>Tgt		YTH domain family, member 2							106.0	105.0	105.0					1																	29069851		2005	4188	6193	SO:0001583	missense	51441				humoral immune response			g.chr1:29069851C>T	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1069C>T	1.37:g.29069851C>T	ENSP00000362918:p.Arg357Cys					YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R357C|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R307C	p.R357C	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1431	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	357					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1069C>T	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049298	0.55218	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.59224	0.28;0.28;0.28	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.70655	-0.4812	9	.	.	.	.	13.9701	0.64235	0.1518:0.8482:0.0:0.0	.	357;357	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	C	357;357;307;357	ENSP00000444660:R357C;ENSP00000362918:R357C;ENSP00000439394:R307C	.	R	+	1	0	YTHDF2	28942438	0.997000	0.39634	1.000000	0.80357	1.000000	0.99986	1.459000	0.35234	2.802000	0.96397	0.655000	0.94253	CGT		0.582	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		7	178	0	0	0	1	0	7	178				
MCMBP	79892	broad.mit.edu	37	10	121596512	121596512	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:121596512G>A	ENST00000360003.3	-	13	1613	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	MCMBP_ENST00000369077.3_Missense_Mutation_p.L480F|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	482					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.L482F(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						CACGTTATGAGGTTGCTCAGG	0.433																																						ENST00000360003.3																			1	Substitution - Missense(1)	p.L482F(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1444-1446)Ctc>Ttc		minichromosome maintenance complex binding protein							153.0	127.0	136.0					10																	121596512		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121596512G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1444C>T	10.37:g.121596512G>A	ENSP00000353098:p.Leu482Phe					MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.L480F	p.L482F	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			13	1613	-			482					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1444C>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850107	0.71603	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.28	5.28	0.74379	.	0.160378	0.43260	D	0.000594	D	0.82531	0.5057	M	0.83312	2.635	0.58432	D	0.999998	D	0.71674	0.998	P	0.62649	0.905	D	0.85264	0.1052	9	0.72032	D	0.01	-7.5471	18.9133	0.92494	0.0:0.0:1.0:0.0	.	482	Q9BTE3	MCMBP_HUMAN	F	482;480	.	ENSP00000353098:L482F	L	-	1	0	MCMBP	121586502	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	2.077000	0.41557	2.474000	0.83562	0.655000	0.94253	CTC		0.433	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		22	69	0	0	0	1	0	22	69				
SLC25A22	79751	broad.mit.edu	37	11	792012	792012	+	Missense_Mutation	SNP	G	G	A	rs183409730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:792012G>A	ENST00000320230.5	-	10	1356	c.875C>T	c.(874-876)gCg>gTg	p.A292V	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A292V|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	292					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGACCAGCGCGCGGCAGTA	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		16951	0.001		0.0	False		,,,				2504	0.0				Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(874-876)gCg>gTg		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4380		0,0,2190	17.0	16.0	16.0		875,875,875	3.9	0.3	11		16	2,8570		0,2,4284	no	missense,missense,missense	SLC25A22	NM_001191060.1,NM_001191061.1,NM_024698.5	64,64,64	0,2,6474	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	292/324,292/324,292/324	792012	2,12950	2190	4286	6476	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792012G>A	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.875C>T	11.37:g.792012G>A	ENSP00000322020:p.Ala292Val					SLC25A22_ENST00000531214.1_Missense_Mutation_p.A292V	p.A292V	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	1356	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	292					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.875C>T	CCDS7715.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.22	1.291442	0.23564	0.0	2.33E-4	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.76448	-1.02;-1.02	3.87	3.87	0.44632	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	N	0.01003	-1.06	0.58432	D	0.999999	D	0.56521	0.976	P	0.55577	0.779	T	0.63541	-0.6614	10	0.02654	T	1	-25.0778	16.4038	0.83651	0.0:0.0:1.0:0.0	.	292	Q9H936	GHC1_HUMAN	V	292	ENSP00000322020:A292V;ENSP00000437236:A292V	ENSP00000322020:A292V	A	-	2	0	SLC25A22	782012	1.000000	0.71417	0.257000	0.24404	0.196000	0.23810	6.314000	0.72848	2.177000	0.69029	0.655000	0.94253	GCG		0.692	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			4	18	0	0	0	1	0	4	18				
GLO1	2739	broad.mit.edu	37	6	38652182	38652182	+	Silent	SNP	C	C	T	rs182114911		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:38652182C>T	ENST00000373365.4	-	3	362	c.276G>A	c.(274-276)gcG>gcA	p.A92A	GLO1_ENST00000470973.1_5'Flank	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TTCTGGAGAGCGCCCAGGCTA	0.303													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12628	0.0		0.0	False		,,,				2504	0.0					ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(274-276)gcG>gcA		glyoxalase I	Glutathione(DB00143)						65.0	60.0	62.0					6																	38652182		2202	4298	6500	SO:0001819	synonymous_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38652182C>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.276G>A	6.37:g.38652182C>T							p.A92A	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			3	362	-			92					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Silent	SNP	ENST00000373365.4	37	c.276G>A	CCDS4837.1																																																																																				0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		7	18	0	0	0	1	0	7	18				
NDUFB7	4713	broad.mit.edu	37	19	14677003	14677003	+	Missense_Mutation	SNP	G	G	A	rs375409166		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14677003G>A	ENST00000215565.2	-	3	417	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	119					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAACTCTGCCGCCTTCTTCTC	0.627																																						ENST00000215565.2																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(355-357)gCg>gTg		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	NADH(DB00157)	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	26.0	31.0	29.0		356	-0.1	0.1	19		29	0,8600		0,0,4300	no	missense	NDUFB7	NM_004146.5	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	119/138	14677003	1,13005	2203	4300	6503	SO:0001583	missense	4713				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:14677003G>A		CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"""Mitochondrial respiratory chain complex / Complex I"""	7702	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase B18 subunit"", ""complex I B18 subunit"""	603842	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"""			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.356C>T	19.37:g.14677003G>A	ENSP00000215565:p.Ala119Val						p.A119V	NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN			3	417	-			119					Q6ICN9|Q9UI16	Missense_Mutation	SNP	ENST00000215565.2	37	c.356C>T	CCDS12314.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939128	0.34189	2.27E-4	0.0	ENSG00000099795	ENST00000215565	T	0.47177	0.85	5.02	-0.0961	0.13638	.	0.171732	0.49916	D	0.000134	T	0.29652	0.0740	L	0.29908	0.895	0.28146	N	0.929603	P	0.36438	0.553	B	0.24006	0.05	T	0.12941	-1.0528	10	0.44086	T	0.13	-0.2972	14.5396	0.67984	0.0:0.0:0.641:0.359	.	119	P17568	NDUB7_HUMAN	V	119	ENSP00000215565:A119V	ENSP00000215565:A119V	A	-	2	0	NDUFB7	14538003	0.595000	0.26857	0.127000	0.21898	0.010000	0.07245	0.931000	0.28871	0.010000	0.14839	-0.485000	0.04761	GCG		0.627	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466025.1	NM_004146		12	31	0	0	0	1	0	12	31				
KCNE2	9992	broad.mit.edu	37	21	35743007	35743007	+	Missense_Mutation	SNP	G	G	A	rs199473365		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35743007G>A	ENST00000290310.3	+	2	370	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	77			R -> W (in LQT6). {ECO:0000269|PubMed:16922724}.		aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						TCCAAGAGACGGGAACACTCC	0.463																																						ENST00000290310.2																			0				endometrium(1)|large_intestine(1)	2						c.(229-231)cGg>cAg		potassium voltage-gated channel, Isk-related family, member 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	107.0	112.0		230	-4.3	0.0	21		112	0,8600		0,0,4300	no	missense	KCNE2	NM_172201.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	77/124	35743007	1,13005	2203	4300	6503	SO:0001583	missense	0				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr21:35743007G>A	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"""Potassium channels"""	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.230G>A	21.37:g.35743007G>A	ENSP00000290310:p.Arg77Gln						p.R77Q	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN			2	370	+			77		R -> W (in LQT6).			A5H1P3|D3DSF8|Q52LJ5	Missense_Mutation	SNP	ENST00000290310.3	37	c.230G>A	CCDS13635.1	.	.	.	.	.	.	.	.	.	.	G	7.880	0.729935	0.15507	2.27E-4	0.0	ENSG00000159197	ENST00000290310	D	0.92099	-2.97	5.66	-4.35	0.03656	.	0.688829	0.12899	N	0.429901	D	0.84392	0.5462	L	0.27053	0.805	0.09310	N	0.999997	B	0.11235	0.004	B	0.12156	0.007	T	0.65034	-0.6266	10	0.21540	T	0.41	-12.3146	15.8439	0.78871	0.333:0.0:0.667:0.0	.	77	Q9Y6J6	KCNE2_HUMAN	Q	77	ENSP00000290310:R77Q	ENSP00000290310:R77Q	R	+	2	0	KCNE2	34664877	0.003000	0.15002	0.017000	0.16124	0.513000	0.34164	0.041000	0.13927	-0.693000	0.05121	-0.946000	0.02672	CGG		0.463	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2			17	43	0	0	0	1	0	17	43				
L1CAM	3897	broad.mit.edu	37	X	153132319	153132319	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153132319C>T	ENST00000370060.1	-	19	2405	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	L1CAM_ENST00000361981.3_Missense_Mutation_p.R734Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.R734Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.R739Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.R739Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	739	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> W. {ECO:0000269|PubMed:10797421}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATCCACCGGAGCGGCTG	0.642																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2215-2217)cGg>cAg		L1 cell adhesion molecule							27.0	28.0	28.0					X																	153132319		2203	4298	6501	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132319C>T	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2216G>A	X.37:g.153132319C>T	ENSP00000359077:p.Arg739Gln					L1CAM_ENST00000361699.4_Missense_Mutation_p.R739Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.R734Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.R734Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.R739Q	p.R739Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			19	2405	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		739		R -> W.	Fibronectin type-III 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.2216G>A	CCDS14733.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672440|2.672440	0.47781|0.47781	.|.	.|.	ENSG00000198910|ENSG00000198910	ENST00000455590|ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	.|T;T;T;T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.43|5.43	-0.522|-0.522	0.11928|0.11928	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|1.050790	.|0.07494	.|N	.|0.906139	T|T	0.30198|0.30198	0.0757|0.0757	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20368	.|0.035;0.006;0.044	.|B;B;B	.|0.13407	.|0.005;0.002;0.009	T|T	0.18840|0.18840	-1.0324|-1.0324	5|10	.|0.40728	.|T	.|0.16	.|.	7.4448|7.4448	0.27205|0.27205	0.138:0.1555:0.0:0.7065|0.138:0.1555:0.0:0.7065	.|.	.|734;739;739	.|G3XAF4;P32004-2;P32004	.|.;.;L1CAM_HUMAN	S|Q	160|739;741;739;741;734;734;739	.|ENSP00000359077:R739Q;ENSP00000438430:R741Q;ENSP00000359074:R739Q;ENSP00000439645:R741Q;ENSP00000354712:R734Q;ENSP00000359072:R734Q;ENSP00000355380:R739Q	.|ENSP00000355380:R739Q	G|R	-|-	1|2	0|0	L1CAM|L1CAM	152785513|152785513	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.846000|0.846000	0.48090|0.48090	-0.292000|-0.292000	0.08332|0.08332	-0.383000|-0.383000	0.07858|0.07858	0.529000|0.529000	0.55759|0.55759	GGT|CGG		0.642	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		24	10	0	0	0	1	0	24	10				
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTATTTTAACGTAAGCCATAT	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		38	Unknown(23)|Whole gene deletion(15)	p.?(23)|p.0?(15)	bone(12)|eye(6)|urinary_tract(5)|breast(5)|endometrium(3)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS890133|CS982341	RB1	S		c.e12+1		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						80.0	87.0	84.0					13																	48947629		2202	4287	6489	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947629G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1215+1G>A	13.37:g.48947629G>A		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1353	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681750	0.68042	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0805	0.93179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47845630	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.247000	0.78257	2.510000	0.84645	0.563000	0.77884	.		0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	4	66	0	0	0	1	0	4	66				
KCNJ6	3763	broad.mit.edu	37	21	39087429	39087429	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:39087429C>T	ENST00000609713.1	-	3	620	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V11I|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	11					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCTCCAGGACGTTAGCTGGT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(31-33)Gtc>Atc		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						43.0	39.0	41.0					21																	39087429		1991	4170	6161	SO:0001583	missense	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:39087429C>T	U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.31G>A	21.37:g.39087429C>T	ENSP00000477437:p.Val11Ile					KCNJ6_ENST00000288309.6_Missense_Mutation_p.V11I	p.V11I	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			3	620	-			11					Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	c.31G>A	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188125	0.38609	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.87966	-2.32;-2.32	5.8	5.8	0.92144	.	0.572880	0.13979	U	0.349588	T	0.73016	0.3533	N	0.03608	-0.345	0.36537	D	0.871044	B	0.29115	0.233	B	0.17098	0.017	T	0.75445	-0.3315	10	0.62326	D	0.03	.	13.2885	0.60258	0.0:0.928:0.0:0.072	.	11	P48051	IRK6_HUMAN	I	11	ENSP00000383330:V11I;ENSP00000288309:V11I	ENSP00000288309:V11I	V	-	1	0	KCNJ6	38009299	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	3.145000	0.50623	2.744000	0.94065	0.655000	0.94253	GTC		0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		8	29	0	0	0	1	0	8	29				
PCDHB1	29930	broad.mit.edu	37	5	140431763	140431763	+	Silent	SNP	C	C	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140431763C>T	ENST00000306549.3	+	1	785	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	236	Cadherin 2. {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)	p.N236N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTCAACGACCACGTGC	0.597																																						ENST00000306549.3																			1	Substitution - coding silent(1)	p.N236N(1)	large_intestine(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(706-708)aaC>aaT									33.0	32.0	33.0					5																	140431763		2203	4300	6503	SO:0001819	synonymous_variant	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431763C>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.708C>T	5.37:g.140431763C>T							p.N236N	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	785	+			236			Cadherin 2.		Q2M257	Silent	SNP	ENST00000306549.3	37	c.708C>T	CCDS4243.1																																																																																				0.597	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		7	19	0	0	0	1	0	7	19				
POLE	5426	broad.mit.edu	37	12	133254166	133254166	+	Missense_Mutation	SNP	C	C	T	rs371882716	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133254166C>T	ENST00000320574.5	-	7	761	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	POLE_ENST00000535270.1_Missense_Mutation_p.V213M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	240					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCACTCACCACGTGGATCTTC	0.498								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(718-720)Gtg>Atg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit		C	MET/VAL	0,4406		0,0,2203	114.0	93.0	100.0		718	5.8	1.0	12		100	2,8598	2.2+/-6.3	0,2,4298	no	missense	POLE	NM_006231.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	240/2287	133254166	2,13004	2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133254166C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.718G>A	12.37:g.133254166C>T	ENSP00000322570:p.Val240Met					POLE_ENST00000535270.1_Missense_Mutation_p.V213M	p.V240M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	7	761	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	240					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.718G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899793	0.91962	0.0	2.33E-4	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.75	5.75	0.90469	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.062950	0.64402	D	0.000005	T	0.39911	0.1096	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.942;0.989	T	0.23119	-1.0197	10	0.72032	D	0.01	.	19.9577	0.97228	0.0:1.0:0.0:0.0	.	213;240	F5H1D6;Q07864	.;DPOE1_HUMAN	M	240;251;213;20;175	ENSP00000322570:V240M;ENSP00000406383:V251M;ENSP00000445753:V213M;ENSP00000442519:V20M	ENSP00000322570:V240M	V	-	1	0	POLE	131764239	1.000000	0.71417	0.975000	0.42487	0.688000	0.40055	7.770000	0.85390	2.714000	0.92807	0.563000	0.77884	GTG		0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		14	33	0	0	0	1	0	14	33				
F7	2155	broad.mit.edu	37	13	113772753	113772753	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113772753G>A	ENST00000375581.3	+	9	867	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F7_ENST00000541084.1_Missense_Mutation_p.G209R|F7_ENST00000346342.3_Missense_Mutation_p.G256R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	278	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACGGGGATGAGCA	0.687																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(832-834)Ggg>Agg		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						66.0	67.0	67.0					13																	113772753		2202	4299	6501	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772753G>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.832G>A	13.37:g.113772753G>A	ENSP00000364731:p.Gly278Arg					F7_ENST00000346342.3_Missense_Mutation_p.G256R|F7_ENST00000541084.1_Missense_Mutation_p.G209R	p.G278R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	867	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	278			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.832G>A	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883883	0.51908	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.90261	-2.64;-2.64;-2.64	4.28	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.349316	0.28146	N	0.016430	D	0.91415	0.7291	L	0.39245	1.2	0.19575	N	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.996;0.997	T	0.83033	-0.0161	10	0.66056	D	0.02	.	7.6223	0.28191	0.0945:0.0:0.7397:0.1658	.	209;256;278	F5H8B0;P08709-2;P08709	.;.;FA7_HUMAN	R	256;209;278	ENSP00000329546:G256R;ENSP00000442051:G209R;ENSP00000364731:G278R	ENSP00000329546:G256R	G	+	1	0	F7	112820754	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	3.486000	0.53215	0.967000	0.38186	0.313000	0.20887	GGG		0.687	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		37	98	0	0	0	1	0	37	98				
TNFRSF18	8784	broad.mit.edu	37	1	1140762	1140762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1140762delC	ENST00000379268.2	-	2	417	c.298delG	c.(298-300)gtafs	p.V100fs	TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.V28fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.V100fs|TNFRSF18_ENST00000328596.6_Frame_Shift_Del_p.V100fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	100					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGGACTGTACCCCCTGGCCT	0.657																																					GBM(157;472 1934 13810 14591 35952)	ENST00000379268.2																			0				lung(1)	1						c.(298-300)tafs		tumor necrosis factor receptor superfamily, member 18			,,	18,4232		8,2,2115	42.0	38.0	39.0		,,	-7.1	0.0	1		39	32,8202		15,2,4100	no	frameshift,frameshift,frameshift	TNFRSF18	NM_148902.1,NM_148901.1,NM_004195.2	,,	23,4,6215	A1A1,A1R,RR		0.3886,0.4235,0.4005	,,	,,	1140762	50,12434	2195	4290	6485	SO:0001589	frameshift_variant	8784				anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1140762delC	AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.298delG	1.37:g.1140762delC	ENSP00000368570:p.Val100fs					TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.V28fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.V100fs|TNFRSF18_ENST00000328596.6_Frame_Shift_Del_p.V100fs	p.V100fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	417	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	100					B1AME1|O95851|Q5U0I4|Q9NYJ9	Frame_Shift_Del	DEL	ENST00000379268.2	37	c.298delG	CCDS10.1																																																																																				0.657	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004083.2	NM_004195		9	26						9	26	---	---	---	---
TNFRSF4	7293	broad.mit.edu	37	1	1147441	1147441	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1147441delG	ENST00000379236.3	-	5	519	c.515delC	c.(514-516)ccafs	p.P172fs	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	172					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCGTGGCTGGGGGGTCCCT	0.677																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(514-516)cafs		tumor necrosis factor receptor superfamily, member 4							23.0	25.0	24.0					1																	1147441		2201	4293	6494	SO:0001589	frameshift_variant	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1147441delG	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.515delC	1.37:g.1147441delG	ENSP00000368538:p.Pro172fs					TNFRSF4_ENST00000453580.1_5'UTR	p.P172fs	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	519	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	172					Q13663|Q2M312|Q5T7M0	Frame_Shift_Del	DEL	ENST00000379236.3	37	c.515delC	CCDS11.1																																																																																				0.677	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			12	34						12	34	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:16259480delC	ENST00000375759.3	+	11	6949	c.6745delC	c.(6745-6747)cccfs	p.P2250fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2250	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATCTGCAACCCCCCGCAGG	0.557																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6745-6747)ccfs		spen family transcriptional repressor							75.0	83.0	80.0					1																	16259480		2203	4300	6503	SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259480delC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6745delC	1.37:g.16259480delC	ENSP00000364912:p.Pro2250fs						p.P2250fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2250			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.6745delC	CCDS164.1																																																																																				0.557	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		47	159						47	159	---	---	---	---
TMCO4	255104	broad.mit.edu	37	1	20009647	20009650	+	Frame_Shift_Del	DEL	AGGA	AGGA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20009647_20009650delAGGA	ENST00000294543.6	-	16	2029_2032	c.1788_1791delTCCT	c.(1786-1791)cttcctfs	p.LP596fs	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Frame_Shift_Del_p.LP556fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	596						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCAGCAGCAGGAAGGGAGGCCC	0.647																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1786-1791)ctfs		transmembrane and coiled-coil domains 4																																				SO:0001589	frameshift_variant	255104					integral to membrane		g.chr1:20009647_20009650delAGGA		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1788_1791delTCCT	1.37:g.20009647_20009650delAGGA	ENSP00000294543:p.Leu596fs					TMCO4_ENST00000375122.2_Frame_Shift_Del_p.LP556fs|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Intron	p.LP596fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	2029_2032	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	596					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Frame_Shift_Del	DEL	ENST00000294543.6	37	c.1788_1791delTCCT	CCDS198.1																																																																																				0.647	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		23	99						23	99	---	---	---	---
KIF17	57576	broad.mit.edu	37	1	21014273	21014273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:21014273delG	ENST00000247986.2	-	8	1856	c.1546delC	c.(1546-1548)cagfs	p.Q516fs	KIF17_ENST00000375044.1_Frame_Shift_Del_p.Q416fs|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Frame_Shift_Del_p.Q516fs			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGAAACCTGAGTCTTGGAG	0.542																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1546-1548)agfs		kinesin family member 17							84.0	80.0	81.0					1																	21014273		2203	4300	6503	SO:0001589	frameshift_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014273delG	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1546delC	1.37:g.21014273delG	ENSP00000247986:p.Gln516fs					KIF17_ENST00000400463.3_Frame_Shift_Del_p.Q516fs|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Frame_Shift_Del_p.Q416fs	p.Q516fs			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1856	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	516					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Frame_Shift_Del	DEL	ENST00000247986.2	37	c.1546delC	CCDS213.1																																																																																				0.542	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	137						14	137	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22169275	22169275	+	Frame_Shift_Del	DEL	G	G	-	rs149203308	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22169275delG	ENST00000374695.3	-	67	8977	c.8898delC	c.(8896-8898)cccfs	p.P2966fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2966	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTGCCGGGCGGGGAGGCTGC	0.617																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(8896-8898)ccfs		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						40.0	44.0	43.0					1																	22169275		2203	4299	6502	SO:0001589	frameshift_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22169275delG	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8898delC	1.37:g.22169275delG	ENSP00000363827:p.Pro2966fs						p.P2966fs	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	67	8977	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2966			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	ENST00000374695.3	37	c.8898delC	CCDS30625.1																																																																																				0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		8	101						8	101	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33233495delC	ENST00000373480.1	+	2	269	c.166delC	c.(166-168)cccfs	p.P57fs	KIAA1522_ENST00000401073.2_Frame_Shift_Del_p.P116fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	57			P -> S (in dbSNP:rs11803515).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(343-345)ccfs		KIAA1522							60.0	67.0	65.0					1																	33233495		1985	4150	6135	SO:0001589	frameshift_variant	57648							g.chr1:33233495delC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.166delC	1.37:g.33233495delC	ENSP00000362579:p.Pro57fs					KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs	p.P116fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	57					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Del	DEL	ENST00000373480.1	37	c.343delC	CCDS55588.1																																																																																				0.612	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			28	90						28	90	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39906934	39906935	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39906934_39906935delAG	ENST00000372915.3	+	73	18393_18394	c.18306_18307delAG	c.(18304-18309)aaagagfs	p.E6103fs	MACF1_ENST00000539005.1_Frame_Shift_Del_p.E4015fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E4647fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.E6204fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.E4145fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.E4145fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E6241fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.E4145fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6103					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACATGGAAAGAGAGGCTAGA	0.441																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18607-18612)aaagfs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39906934_39906935delAG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18306_18307delAG	1.37:g.39906938_39906939delAG	ENSP00000362006:p.Glu6103fs					MACF1_ENST00000545844.1_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.KE4014fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.KE6102fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.KE6240fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.KE4646fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.KE4144fs	p.KE6203fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		74	19386_19387	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6212					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.18609_18610delAG																																																																																					0.441	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		30	107						30	107	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgcfs	p.C246fs	TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632																																						ENST00000372476.3																			1	Deletion - Frameshift(1)	p.P248fs*117(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(736-738)tgfs		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							56.0	53.0	54.0					1																	43772910		2203	4300	6503	SO:0001589	frameshift_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772910delC	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.738delC	1.37:g.43772910delC	ENSP00000361554:p.Cys246fs					TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs	p.C246fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			5	817	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	246			EGF-like 1.		B5A949|B5A950	Frame_Shift_Del	DEL	ENST00000372476.3	37	c.738delC	CCDS482.1																																																																																				0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	86						28	86	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46543215	46543215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:46543215delT	ENST00000262741.5	-	3	975	c.286delA	c.(286-288)atgfs	p.M96fs	PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.M60fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M142fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	96	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TCTCCCTGCATTTTTGTTGAG	0.383																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(286-288)tgfs		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							129.0	126.0	127.0					1																	46543215		2203	4300	6503	SO:0001589	frameshift_variant	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46543215delT	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.286delA	1.37:g.46543215delT	ENSP00000262741:p.Met96fs					PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.M60fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M142fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M96fs	p.M96fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			3	975	-	Acute lymphoblastic leukemia(166;0.155)		96			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Frame_Shift_Del	DEL	ENST00000262741.5	37	c.286delA	CCDS529.1																																																																																				0.383	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		9	119						9	119	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75038828	75038829	+	Frame_Shift_Ins	INS	-	-	C	rs372137519	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:75038828_75038829insC	ENST00000326665.5	-	14	2783_2784	c.2565_2566insG	c.(2563-2568)gggtcafs	p.S856fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		856	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGGGGTCTGACCCCCCTTCAC	0.53																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2563-2568)ggcagafs		chromosome 1 open reading frame 173																																				SO:0001589	frameshift_variant	127254							g.chr1:75038828_75038829insC																												ENST00000326665.5:c.2566dupG	1.37:g.75038834_75038834dupC	ENSP00000322609:p.Ser856fs					C1orf173_ENST00000433746.2_5'UTR	p.R856fs	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	2783_2784	-			856			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Ins	INS	ENST00000326665.5	37	c.2565_2566insG	CCDS30755.1																																																																																				0.530	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			16	176						16	176	---	---	---	---
LPHN2	23266	broad.mit.edu	37	1	82408815	82408817	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:82408815_82408817delCTT	ENST00000370728.1	+	8	1205_1207	c.560_562delCTT	c.(559-564)gcttct>gct	p.S188del	LPHN2_ENST00000370717.2_In_Frame_Del_p.S188del|LPHN2_ENST00000370715.1_In_Frame_Del_p.S188del|LPHN2_ENST00000394879.1_In_Frame_Del_p.S188del|LPHN2_ENST00000359929.3_In_Frame_Del_p.S188del|LPHN2_ENST00000370723.1_In_Frame_Del_p.S188del|LPHN2_ENST00000370713.1_In_Frame_Del_p.S188del|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_In_Frame_Del_p.S188del|LPHN2_ENST00000370725.1_In_Frame_Del_p.S188del|LPHN2_ENST00000335786.5_In_Frame_Del_p.S188del|LPHN2_ENST00000271029.4_In_Frame_Del_p.S188del|LPHN2_ENST00000319517.6_In_Frame_Del_p.S188del|LPHN2_ENST00000370730.1_In_Frame_Del_p.S188del|LPHN2_ENST00000370721.1_In_Frame_Del_p.S192del			O95490	LPHN2_HUMAN	latrophilin 2	188	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATAGAATATGCTTCTTTAGAAGA	0.409																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(559-564)gct>g		latrophilin 2																																				SO:0001651	inframe_deletion	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82408815_82408817delCTT	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.560_562delCTT	1.37:g.82408818_82408820delCTT	ENSP00000359763:p.Ser188del					LPHN2_ENST00000370725.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370727.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000359929.3_In_Frame_Del_p.AS187del|LPHN2_ENST00000370730.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000319517.6_In_Frame_Del_p.AS187del|LPHN2_ENST00000394879.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370715.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370721.1_In_Frame_Del_p.AS191del|LPHN2_ENST00000271029.4_In_Frame_Del_p.AS187del|LPHN2_ENST00000370723.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370717.2_In_Frame_Del_p.AS187del|LPHN2_ENST00000335786.5_In_Frame_Del_p.AS187del	p.AS187del			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	8	1205_1207	+			187			Olfactomedin-like.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	In_Frame_Del	DEL	ENST00000370728.1	37	c.560_562delCTT																																																																																					0.409	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		31	66						31	66	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:92511122delG	ENST00000370383.4	+	4	607	c.509delG	c.(508-510)tggfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(508-510)tgfs		epoxide hydrolase 4							213.0	184.0	194.0					1																	92511122		2203	4300	6503	SO:0001589	frameshift_variant	253152					integral to membrane	hydrolase activity	g.chr1:92511122delG	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.509delG	1.37:g.92511122delG	ENSP00000359410:p.Trp170fs						p.W170fs	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			4	607	+			170					Q8NCC6	Frame_Shift_Del	DEL	ENST00000370383.4	37	c.509delG	CCDS736.1																																																																																				0.388	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		8	105						8	105	---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del	FAM102B_ENST00000405454.1_In_Frame_Del_p.K6del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(4-9)atg>at		family with sequence similarity 102, member B				4,4262		1,2,2130						1.8	1.0			39	31,8221		11,9,4106	no	coding	FAM102B	NM_001010883.2		12,11,6236	A1A1,A1R,RR		0.3757,0.0938,0.2796				35,12483				SO:0001651	inframe_deletion	284611							g.chr1:109103056_109103058delGAA	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.6_8delGAA	1.37:g.109103065_109103067delGAA	ENSP00000359052:p.Lys6del					FAM102B_ENST00000405454.1_In_Frame_Del_p.MK2del	p.MK2del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	1	346_348	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	2					A1L1A1|B0QZ46|B0QZ47|Q68DH7	In_Frame_Del	DEL	ENST00000370035.3	37	c.6_8delGAA	CCDS30786.2																																																																																				0.640	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		9	27						9	27	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143209443	143209444	+	lincRNA	INS	-	-	TC			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:143209443_143209444insTC	ENST00000412204.2	-	0	1626_1627				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCTTTCTGCTTTCTCTCTCTCA	0.302																																						ENST00000412204.2																			0																																																			0							g.chr1:143209443_143209444insTC																													1.37:g.143209452_143209453dupTC						RP11-782C8.1_ENST00000438000.1_lincRNA								0	1626_1627	-									RNA	INS	ENST00000412204.2	37																																																																																						0.302	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			12	11						12	11	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156917732	156917733	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156917732_156917733insG	ENST00000361409.2	-	24	2791_2792	c.2049_2050insC	c.(2047-2052)cccagtfs	p.S684fs	ARHGEF11_ENST00000315174.8_Frame_Shift_Ins_p.S100fs|ARHGEF11_ENST00000487682.1_5'Flank|ARHGEF11_ENST00000368194.3_Frame_Shift_Ins_p.S724fs	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	684					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCCAAACTGGGGGACTCAA	0.574																																						ENST00000368194.3																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81						c.(2167-2172)ccgtttfs		Rho guanine nucleotide exchange factor (GEF) 11																																				SO:0001589	frameshift_variant	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156917732_156917733insG	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2050dupC	1.37:g.156917737_156917737dupG	ENSP00000354644:p.Ser684fs					ARHGEF11_ENST00000315174.8_Frame_Shift_Ins_p.F100fs|ARHGEF11_ENST00000361409.2_Frame_Shift_Ins_p.F684fs	p.F724fs	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			25	3208_3209	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		684					D3DVD0|Q5VY40|Q6PFW2	Frame_Shift_Ins	INS	ENST00000361409.2	37	c.2169_2170insC	CCDS1162.1																																																																																				0.574	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		14	30						14	30	---	---	---	---
TBX19	9095	broad.mit.edu	37	1	168282117	168282117	+	Frame_Shift_Del	DEL	G	G	-	rs149058755		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:168282117delG	ENST00000367821.3	+	8	1275	c.1224delG	c.(1222-1224)ctgfs	p.L408fs	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	408					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGGAGGTTCTGGGGGAGCCCT	0.642																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(1222-1224)ctfs		T-box 19							53.0	46.0	49.0					1																	168282117		2203	4300	6503	SO:0001589	frameshift_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168282117delG	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1224delG	1.37:g.168282117delG	ENSP00000356795:p.Leu408fs					TBX19_ENST00000465440.1_3'UTR	p.L408fs	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			8	1275	+	all_hematologic(923;0.215)		408					Q52M53	Frame_Shift_Del	DEL	ENST00000367821.3	37	c.1224delG	CCDS1272.1																																																																																				0.642	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		20	52						20	52	---	---	---	---
ARPC5	10092	broad.mit.edu	37	1	183602245	183602245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183602245delG	ENST00000359856.6	-	2	254	c.188delC	c.(187-189)cctfs	p.P63fs	ARPC5_ENST00000294742.6_Frame_Shift_Del_p.P66fs|ARPC5_ENST00000367534.1_Frame_Shift_Del_p.P63fs|RGL1_ENST00000536277.1_5'Flank|RGL1_ENST00000304685.4_5'Flank|ARPC5_ENST00000462965.1_5'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	63					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						GGTGTTGATAGGGGGGTTCTT	0.468																																					Melanoma(136;1596 1789 3041 4830 41075)	ENST00000359856.6																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(187-189)ctfs		actin related protein 2/3 complex, subunit 5, 16kDa							142.0	144.0	143.0					1																	183602245		2203	4300	6503	SO:0001589	frameshift_variant	10092				actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr1:183602245delG	AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.188delC	1.37:g.183602245delG	ENSP00000352918:p.Pro63fs					ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Frame_Shift_Del_p.P66fs|ARPC5_ENST00000367534.1_Frame_Shift_Del_p.P63fs	p.P63fs	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN			2	254	-			63					A6NEC4|Q6PG42	Frame_Shift_Del	DEL	ENST00000359856.6	37	c.188delC	CCDS1357.1																																																																																				0.468	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085477.1	NM_005717		51	187						51	187	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aaafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2410-2412)aafs		potassium channel tetramerization domain containing 3							88.0	89.0	88.0					1																	215793922		2203	4299	6502	SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793922delA	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2410delA	1.37:g.215793922delA	ENSP00000259154:p.Lys805fs					KCTD3_ENST00000495537.1_3'UTR	p.K805fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2704	+			805					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	ENST00000259154.4	37	c.2410delA	CCDS1515.1																																																																																				0.418	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		21	74						21	74	---	---	---	---
ZNF670	93474	broad.mit.edu	37	1	247201212	247201212	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247201212delA	ENST00000366503.2	-	4	867	c.709delT	c.(709-711)tccfs	p.S239fs		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	239					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(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGAGAACTGGAAAAAGTGAAT	0.383																																						ENST00000366503.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(709-711)ccfs		zinc finger protein 670							78.0	80.0	79.0					1																	247201212		2203	4299	6502	SO:0001589	frameshift_variant	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247201212delA		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.709delT	1.37:g.247201212delA	ENSP00000355459:p.Ser239fs						p.S239fs	NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	867	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	239						Frame_Shift_Del	DEL	ENST00000366503.2	37	c.709delT	CCDS31087.1																																																																																				0.383	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		22	54						22	54	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247587978delC	ENST00000336119.3	+	3	1979	c.1233delC	c.(1231-1233)atcfs	p.I411fs	NLRP3_ENST00000366497.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.I411fs	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	411	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGCTTCATCCCCCTGGTCT	0.547																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1231-1233)atfs		NLR family, pyrin domain containing 3							104.0	81.0	89.0					1																	247587978		2203	4300	6503	SO:0001589	frameshift_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587978delC	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1233delC	1.37:g.247587978delC	ENSP00000337383:p.Ile411fs					NLRP3_ENST00000391828.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000474792.1_3'UTR	p.I411fs	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2013	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	411			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Frame_Shift_Del	DEL	ENST00000336119.3	37	c.1233delC	CCDS1632.1																																																																																				0.547	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		7	83						7	83	---	---	---	---
SH3BP5L	80851	broad.mit.edu	37	1	249106151	249106151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249106151delC	ENST00000366472.5	-	7	2359	c.1130delG	c.(1129-1131)ggcfs	p.G377fs	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.G345fs	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	377										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCGTCGCTGCCCCGGCGCCC	0.701																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1129-1131)gcfs		SH3-binding domain protein 5-like							7.0	8.0	8.0					1																	249106151		2173	4239	6412	SO:0001589	frameshift_variant	80851							g.chr1:249106151delC	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.1130delG	1.37:g.249106151delC	ENSP00000355428:p.Gly377fs					SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.G345fs|SH3BP5L_ENST00000475978.1_5'UTR	p.G377fs	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	2359	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	377					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Frame_Shift_Del	DEL	ENST00000366472.5	37	c.1130delG	CCDS31126.1																																																																																				0.701	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		4	5						4	5	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211881	249211881	+	Frame_Shift_Del	DEL	G	G	-	rs150352847		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211881delG	ENST00000329291.5	+	3	1245	c.1098delG	c.(1096-1098)aagfs	p.K366fs	PGBD2_ENST00000355360.4_Frame_Shift_Del_p.K115fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.K363fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	366										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAGGAAAAAGGGGGTGAAAG	0.418																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(343-345)aafs		piggyBac transposable element derived 2							79.0	84.0	82.0					1																	249211881		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr1:249211881delG	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1098delG	1.37:g.249211881delG	ENSP00000331643:p.Lys366fs					PGBD2_ENST00000329291.5_Frame_Shift_Del_p.K366fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.K363fs	p.K115fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	615	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	366					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.345delG	CCDS31128.1																																																																																				0.418	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			34	92						34	92	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1926367delG	ENST00000399161.2	-	10	1921	c.1174delC	c.(1174-1176)cggfs	p.R392fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.R392fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	392					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCTCGACCGGGGGCTCAAC	0.592																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1174-1176)ggfs		myelin transcription factor 1-like							38.0	41.0	40.0					2																	1926367		2124	4241	6365	SO:0001589	frameshift_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926367delG	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1174delC	2.37:g.1926367delG	ENSP00000382114:p.Arg392fs					MYT1L_ENST00000428368.2_Frame_Shift_Del_p.R392fs	p.R392fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1921	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	392					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Del	DEL	ENST00000399161.2	37	c.1174delC																																																																																					0.592	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		14	46						14	46	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11389836_11389837insA	ENST00000315872.6	-	4	860_861	c.412_413insT	c.(412-414)tggfs	p.W138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(412-414)ggafs		Rho-associated, coiled-coil containing protein kinase 2																																				SO:0001589	frameshift_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11389836_11389837insA	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.413dupT	2.37:g.11389843_11389843dupA	ENSP00000317985:p.Trp138fs					ROCK2_ENST00000462366.1_5'UTR	p.G138fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	4	860_861	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		138			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Ins	INS	ENST00000315872.6	37	c.412_413insT	CCDS42654.1																																																																																				0.356	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			8	153						8	153	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20511377	20511377	+	Frame_Shift_Del	DEL	T	T	-	rs34931937		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:20511377delT	ENST00000361078.2	-	4	418	c.396delA	c.(394-396)aaafs	p.K132fs	PUM2_ENST00000319801.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000403432.1_Frame_Shift_Del_p.K132fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.K76fs|PUM2_ENST00000338086.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000420234.1_Intron			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	132	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTTGCCTTTTTGATCTC	0.373																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(394-396)aafs		pumilio RNA-binding family member 2							147.0	133.0	138.0					2																	20511377		2203	4300	6503	SO:0001589	frameshift_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20511377delT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.396delA	2.37:g.20511377delT	ENSP00000354370:p.Lys132fs					PUM2_ENST00000403432.1_Frame_Shift_Del_p.K132fs|PUM2_ENST00000536417.1_Frame_Shift_Del_p.K76fs|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000338086.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.K132fs	p.K132fs			Q8TB72	PUM2_HUMAN			4	418	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		132			Interaction with SNAPIN.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Frame_Shift_Del	DEL	ENST00000361078.2	37	c.396delA																																																																																					0.373	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		17	31						17	31	---	---	---	---
RPS27A	6233	broad.mit.edu	37	2	55462017	55462019	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:55462017_55462019delGAA	ENST00000272317.6	+	5	564_566	c.240_242delGAA	c.(238-243)aggaag>agg	p.K83del	CLHC1_ENST00000494539.1_5'Flank|RPS27A_ENST00000404735.1_In_Frame_Del_p.K83del|CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000402285.3_In_Frame_Del_p.K83del|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000406076.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	83	Lys-rich (highly basic).				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						CTAAGAAAAGGAAGAAGAAGTCT	0.419																																						ENST00000272317.6																			0				cervix(1)|ovary(1)|urinary_tract(1)	3						c.(238-243)agg>ag		ribosomal protein S27a																																				SO:0001651	inframe_deletion	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462017_55462019delGAA	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.240_242delGAA	2.37:g.55462023_55462025delGAA	ENSP00000272317:p.Lys83del					RPS27A_ENST00000404735.1_In_Frame_Del_p.RK80del|RPS27A_ENST00000402285.3_In_Frame_Del_p.RK80del	p.RK80del	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN			5	564_566	+			80			Lys-rich (highly basic).		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	In_Frame_Del	DEL	ENST00000272317.6	37	c.240_242delGAA	CCDS33202.1																																																																																				0.419	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			10	17						10	17	---	---	---	---
ATP6V1B1	525	broad.mit.edu	37	2	71187196	71187196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:71187196delC	ENST00000234396.4	+	6	646	c.573delC	c.(571-573)ctcfs	p.L191fs	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.L191fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	191					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGCCGGGCTCCCCCACAATG	0.622																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(571-573)ctfs		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							40.0	42.0	42.0					2																	71187196		2203	4300	6503	SO:0001589	frameshift_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71187196delC	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.573delC	2.37:g.71187196delC	ENSP00000234396:p.Leu191fs					ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.L191fs|AC007040.11_ENST00000606025.1_Intron	p.L191fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			6	646	+			191					Q53FY0|Q6P4H6	Frame_Shift_Del	DEL	ENST00000234396.4	37	c.573delC	CCDS1912.1																																																																																				0.622	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		25	58						25	58	---	---	---	---
KIAA1211L	343990	broad.mit.edu	37	2	99439044	99439045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:99439044_99439045insC	ENST00000397899.2	-	7	2022_2023	c.1691_1692insG	c.(1690-1692)ggcfs	p.G564fs		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	564																	GCTCGGCACCGCCCCTCTCCGC	0.792																																						ENST00000397899.2																			0											c.(1690-1692)gggfs		KIAA1211-like																																				SO:0001589	frameshift_variant	343990							g.chr2:99439044_99439045insC	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1692dupG	2.37:g.99439048_99439048dupC	ENSP00000380996:p.Gly564fs						p.G564fs	NM_207362.2	NP_997245.2					7	2022_2023	-									Frame_Shift_Ins	INS	ENST00000397899.2	37	c.1691_1692insG	CCDS42720.1																																																																																				0.792	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		6	1						6	1	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109388168	109388168	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:109388168delA	ENST00000283195.6	+	21	7987	c.7861delA	c.(7861-7863)aaafs	p.K2622fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2622					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAAGAGAAGAAAAAACCTGA	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(7861-7863)aafs		RAN binding protein 2							112.0	126.0	121.0					2																	109388168		2203	4300	6503	SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109388168delA	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7861delA	2.37:g.109388168delA	ENSP00000283195:p.Lys2622fs						p.K2622fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			21	7987	+			2622					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.7861delA	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		55	143						55	143	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	114002135	114002135	+	Frame_Shift_Del	DEL	G	G	-	rs200158983		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:114002135delG	ENST00000429538.3	-	4	452	c.258delC	c.(256-258)cccfs	p.P86fs	PAX8_ENST00000263334.5_Frame_Shift_Del_p.P86fs|PAX8_ENST00000348715.5_Frame_Shift_Del_p.P86fs|PAX8_ENST00000263335.7_Frame_Shift_Del_p.P86fs|PAX8_ENST00000397647.3_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	86	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCACCACCTTGGGGGTGGCCA	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(256-258)ccfs		paired box 8							158.0	174.0	169.0					2																	114002135		2145	4277	6422	SO:0001589	frameshift_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002135delG	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.258delC	2.37:g.114002135delG	ENSP00000395498:p.Pro86fs					PAX8_ENST00000263334.5_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000397647.3_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000263335.7_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000348715.5_Frame_Shift_Del_p.P86fs	p.P86fs	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN			4	452	-			86			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Frame_Shift_Del	DEL	ENST00000429538.3	37	c.258delC	CCDS46398.1																																																																																				0.567	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			10	421						10	421	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130951457	130951457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130951457delT	ENST00000312988.7	-	4	1058	c.958delA	c.(958-960)aggfs	p.R320fs		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	320					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACGTCCCCCCTGTACAACATG	0.562																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(958-960)ggfs		tubulin, alpha 3e				1,4265		0,1,2132	154.0	135.0	141.0			3.0	1.0	2		141	0,8254		0,0,4127	no	frameshift	TUBA3E	NM_207312.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080			130951457	1,12519	2203	4300	6503	SO:0001589	frameshift_variant	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951457delT	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.958delA	2.37:g.130951457delT	ENSP00000318197:p.Arg320fs						p.R320fs	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	1058	-	Colorectal(110;0.1)		320						Frame_Shift_Del	DEL	ENST00000312988.7	37	c.958delA	CCDS2158.1																																																																																				0.562	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		59	141						59	141	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141115624delT	ENST00000389484.3	-	74	12290	c.11319delA	c.(11317-11319)aaafs	p.K3773fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3773	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11317-11319)aafs		low density lipoprotein receptor-related protein 1B							166.0	153.0	158.0					2																	141115624		2203	4299	6502	SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115624delT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11319delA	2.37:g.141115624delT	ENSP00000374135:p.Lys3773fs	TSP Lung(27;0.18)					p.K3773fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	74	12290	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3773			LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	c.11319delA	CCDS2182.1																																																																																				0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	107						7	107	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165476321	165476321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:165476321delT	ENST00000263915.3	-	2	738	c.200delA	c.(199-201)aagfs	p.K68fs		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	68					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368																																						ENST00000263915.3																			1	Substitution - Missense(1)	p.K67M(1)	ovary(1)	breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(199-201)agfs		growth factor receptor-bound protein 14							134.0	138.0	137.0					2																	165476321		2203	4300	6503	SO:0001589	frameshift_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165476321delT		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.200delA	2.37:g.165476321delT	ENSP00000263915:p.Lys68fs						p.K68fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			2	738	-			68					B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	ENST00000263915.3	37	c.200delA	CCDS2222.1																																																																																				0.368	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			15	51						15	51	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399405	179399406	+	Frame_Shift_Ins	INS	-	-	G	rs200238877	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179399405_179399406insG	ENST00000591111.1	-	308	97237_97238	c.97013_97014insC	c.(97012-97014)ccafs	p.P32338fs	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P25039fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P31411fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P25106fs|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.P33979fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P24914fs|TTN-AS1_ENST00000592182.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAGTATTCTGGGGCAGTGAA	0.45																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(101935-101937)cgafs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399405_179399406insG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97014dupC	2.37:g.179399409_179399409dupG	ENSP00000465570:p.Pro32338fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.R31411fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.R24914fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.R25106fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.R32338fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.R25039fs|TTN-AS1_ENST00000588257.1_RNA	p.R33979fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	102160_102161	-			32338			Ig-like 150.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.101936_101937insC																																																																																					0.450	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	69						8	69	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179447832	179447833	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179447832_179447833insT	ENST00000591111.1	-	263	60998_60999	c.60774_60775insA	c.(60772-60777)aaagatfs	p.D20259fs	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.D12960fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.D19332fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.D13027fs|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.D21900fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.D12835fs			Q8WZ42	TITIN_HUMAN	titin	20259	Ig-like 111.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGCCATCTTTTTTCCAAG	0.46																																						ENST00000589042.1																			4	Insertion - Frameshift(4)	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)	large_intestine(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(65695-65700)aaatggfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179447832_179447833insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60775dupA	2.37:g.179447838_179447838dupT	ENSP00000465570:p.Asp20259fs					TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.W19332fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.W12835fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.W13027fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.W20259fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.W12960fs	p.W21900fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		313	65921_65922	-			20259			Fibronectin type-III 59.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.65697_65698insA																																																																																					0.460	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	21						9	21	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179638572	179638573	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179638572_179638573delAG	ENST00000591111.1	-	31	7546_7547	c.7322_7323delCT	c.(7321-7323)tctfs	p.S2441fs	TTN_ENST00000359218.5_Frame_Shift_Del_p.S2395fs|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S2441fs|TTN_ENST00000360870.5_Frame_Shift_Del_p.S2441fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S2395fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.S2441fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S2395fs			Q8WZ42	TITIN_HUMAN	titin	12763	Ig-like 13.|Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATAGACAGAGACACGCCC	0.381																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7321-7323)tfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638572_179638573delAG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7322_7323delCT	2.37:g.179638574_179638575delAG	ENSP00000465570:p.Ser2441fs					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S2441fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S2395fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S2395fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.S2441fs|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.S2441fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.S2395fs	p.S2441fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		31	7546_7547	-			2167			Ig-like 13.|Ig-like 14.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.7322_7323delCT																																																																																					0.381	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	69						15	69	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-	rs567294324		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)agfs		integrin, alpha V							249.0	235.0	239.0					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521085delG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs					AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	p.R559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.1676delG	CCDS2292.1																																																																																				0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		67	179						67	179	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219868892	219868893	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219868892_219868893delCT	ENST00000341552.5	-	33	5419_5420	c.5336_5337delAG	c.(5335-5337)gagfs	p.E1784fs	CCDC108_ENST00000441968.1_Frame_Shift_Del_p.E1784fs|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.E1784fs|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1784	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cttcttcctcctcttcctcctc	0.545																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5335-5337)gfs		coiled-coil domain containing 108																																				SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219868892_219868893delCT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5336_5337delAG	2.37:g.219868894_219868895delCT	ENSP00000340776:p.Glu1784fs					AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.E1784fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.E1784fs	p.E1784fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	33	5419_5420	-		Renal(207;0.0915)	1784			Glu-rich.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.5336_5337delAG	CCDS2430.2																																																																																				0.545	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		30	67						30	67	---	---	---	---
NMUR1	10316	broad.mit.edu	37	2	232389804	232389804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:232389804delG	ENST00000305141.4	-	3	1364	c.1231delC	c.(1231-1233)ctgfs	p.L411fs		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	411					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTCCCAGCCAGGGGGTGGACC	0.652																																						ENST00000305141.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24						c.(1231-1233)tgfs		neuromedin U receptor 1							45.0	42.0	43.0					2																	232389804		2203	4300	6503	SO:0001589	frameshift_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232389804delG	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.1231delC	2.37:g.232389804delG	ENSP00000305877:p.Leu411fs						p.L411fs	NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1364	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	411					O43664|Q7LDP6|Q8NE20	Frame_Shift_Del	DEL	ENST00000305141.4	37	c.1231delC	CCDS2486.1																																																																																				0.652	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		8	84						8	84	---	---	---	---
TPRXL	348825	broad.mit.edu	37	3	13976837	13976837	+	5'Flank	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:13976837delT	ENST00000326972.8	+	0	0				FGD5P1_ENST00000502451.1_RNA			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like											endometrium(1)	1						GCTGTTCTCCTTTTTCTGAGT	0.527																																						ENST00000502451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:13976837delT	AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509		3.37:g.13976837delT	Exception_encountered							NR_036481.1						0	1770	+								Q8NAM5	RNA	DEL	ENST00000326972.8	37																																																																																						0.527	TPRXL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340434.2	NR_002223		9	14						9	14	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612871	48612871	+	Frame_Shift_Del	DEL	G	G	-	rs375047225		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612871delG	ENST00000328333.8	-	73	6188	c.6081delC	c.(6079-6081)cccfs	p.P2027fs	COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P1995fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2027	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2029fs*177(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGAAGGCCCGGGGGGGCCCC	0.721																																						ENST00000328333.8																			1	Deletion - Frameshift(1)	p.P2029fs*177(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CD961934	COL7A1	D		c.(6079-6081)ccfs		collagen, type VII, alpha 1				29,3811		4,21,1895	9.0	11.0	11.0			5.0	0.8	3		11	44,7720		3,38,3841	no	frameshift	COL7A1	NM_000094.3		7,59,5736	A1A1,A1R,RR		0.5667,0.7552,0.6291			48612871	73,11531	2081	4155	6236	SO:0001589	frameshift_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612871delG	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6081delC	3.37:g.48612871delG	ENSP00000332371:p.Pro2027fs					COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P1995fs	p.P2027fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6188	-			2027			Triple-helical region.		Q14054|Q16507	Frame_Shift_Del	DEL	ENST00000328333.8	37	c.6081delC	CCDS2773.1																																																																																				0.721	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		11	27						11	27	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612934	48612935	+	Frame_Shift_Ins	INS	-	-	C	rs121912842|rs367583660		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612934_48612935insC	ENST00000328333.8	-	73	6124_6125	c.6017_6018insG	c.(6016-6018)ggcfs	p.G2006fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G1974fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2006	Triple-helical region.		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion). {ECO:0000269|PubMed:10084325, ECO:0000269|PubMed:9668111}.		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCACGGTCGCCCTTCAGCCC	0.688																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137	GRCh37	CD072373|CM980406|CM992847	COL7A1	D|M	rs121912842	c.(6016-6018)ggafs		collagen, type VII, alpha 1																																				SO:0001589	frameshift_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612934_48612935insC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6018dupG	3.37:g.48612937_48612937dupC	ENSP00000332371:p.Gly2006fs					COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G1974fs	p.G2006fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	73	6124_6125	-			2006		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion).	Triple-helical region.		Q14054|Q16507	Frame_Shift_Ins	INS	ENST00000328333.8	37	c.6017_6018insG	CCDS2773.1																																																																																				0.688	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	40						14	40	---	---	---	---
APEH	327	broad.mit.edu	37	3	49712736	49712736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49712736delG	ENST00000296456.5	+	3	666	c.266delG	c.(265-267)cggfs	p.R89fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.R89fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	89					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGACCCGGGGGGAGTAA	0.562																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(265-267)cgfs		acylaminoacyl-peptide hydrolase							65.0	58.0	60.0					3																	49712736		2203	4300	6503	SO:0001589	frameshift_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49712736delG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.266delG	3.37:g.49712736delG	ENSP00000296456:p.Arg89fs					APEH_ENST00000438011.1_Frame_Shift_Del_p.R89fs	p.R89fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	666	+			89					Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.266delG	CCDS2801.1																																																																																				0.562	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			9	21						9	21	---	---	---	---
GMPPB	29925	broad.mit.edu	37	3	49756813	49756814	+	3'UTR	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49756813_49756814insG	ENST00000480687.1	-	0	3570_3571				AMIGO3_ENST00000320431.7_Frame_Shift_Ins_p.R29fs|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000535833.1_Frame_Shift_Ins_p.R29fs|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGCGCACGGGGCGGGAAA	0.653											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000535833.1																			0				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5						c.(85-87)tgcfs		adhesion molecule with Ig-like domain 3																																				SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756813_49756814insG	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2372->C	3.37:g.49756817_49756817dupG			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Frame_Shift_Ins_p.C29fs|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron	p.C29fs			Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	3535_3536	-			29			LRRNT.		A8K6N5|Q9H7U3	Frame_Shift_Ins	INS	ENST00000480687.1	37	c.85_86insC	CCDS2803.1																																																																																				0.653	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		25	114						25	114	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53834368	53834370	+	In_Frame_Del	DEL	AGA	AGA	-	rs147973409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53834368_53834370delAGA	ENST00000350061.5	+	41	5527_5529	c.5016_5018delAGA	c.(5014-5019)cgagaa>cga	p.E1675del	CACNA1D_ENST00000288139.4_In_Frame_Del_p.E1695del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.E1660del|RP11-884K10.6_ENST00000607740.1_RNA|CACNA1D_ENST00000544977.1_In_Frame_Del_p.E54del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1675					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAACAAAACGAGAAGAAGAAGAT	0.468																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(5074-5079)cga>cg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001651	inframe_deletion	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53834368_53834370delAGA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5016_5018delAGA	3.37:g.53834377_53834379delAGA	ENSP00000288133:p.Glu1675del					CACNA1D_ENST00000544977.1_In_Frame_Del_p.RE51del|CACNA1D_ENST00000350061.5_In_Frame_Del_p.RE1672del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.RE1657del	p.RE1692del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	42	5194_5196	+			1672					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	In_Frame_Del	DEL	ENST00000350061.5	37	c.5076_5078delAGA	CCDS46848.1																																																																																				0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		34	118						34	118	---	---	---	---
FAM86DP	692099	broad.mit.edu	37	3	75476776	75476776	+	RNA	DEL	G	G	-	rs576934906		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:75476776delG	ENST00000459803.1	-	0	580					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		ATGAATGCCCGGGGGCGGTAC	0.587																																						ENST00000459803.1																			0																																																			0							g.chr3:75476776delG	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476776delG								NR_024241.1						0	580	-									RNA	DEL	ENST00000459803.1	37																																																																																						0.587	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		16	22						16	22	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99514755	99514755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99514755delG	ENST00000261037.3	+	5	2390	c.2010delG	c.(2008-2010)aagfs	p.K670fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.K670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	670	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTCACTGCAAGGGGGGCAACG	0.527																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(2008-2010)aafs		collagen, type VIII, alpha 1							94.0	90.0	91.0					3																	99514755		2203	4300	6503	SO:0001589	frameshift_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514755delG	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.2010delG	3.37:g.99514755delG	ENSP00000261037:p.Lys670fs					COL8A1_ENST00000273342.4_Frame_Shift_Del_p.K670fs	p.K670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2390	+			670			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Frame_Shift_Del	DEL	ENST00000261037.3	37	c.2010delG	CCDS2934.1																																																																																				0.527	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		15	81						15	81	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134670328	134670328	+	Frame_Shift_Del	DEL	G	G	-	rs559321367		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:134670328delG	ENST00000398015.3	+	3	609	c.239delG	c.(238-240)cggfs	p.R80fs	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	80	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCAACCGGCGGGGGGCCCAT	0.547																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(238-240)cgfs		EPH receptor B1							29.0	31.0	31.0					3																	134670328		2047	4209	6256	SO:0001589	frameshift_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670328delG	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.239delG	3.37:g.134670328delG	ENSP00000381097:p.Arg80fs					EPHB1_ENST00000488154.1_3'UTR	p.R80fs	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	609	+			80					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Frame_Shift_Del	DEL	ENST00000398015.3	37	c.239delG	CCDS46921.1																																																																																				0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		9	25						9	25	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		13	32						13	32	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195392917	195392917	+	lincRNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:195392917delT	ENST00000445430.1	+	0	647									long intergenic non-protein coding RNA 969																		CTTCTTGCCCTTTTTTTTTCT	0.418																																						ENST00000445430.1																			0																																																			0							g.chr3:195392917delT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195392917delT														0	647	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	6						3	6	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10445201	10445202	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:10445201_10445202insA	ENST00000326756.3	-	3	3189_3190	c.2751_2752insT	c.(2749-2754)tttcagfs	p.Q918fs		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	918					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTGCAACCTGAAAAATTGAAG	0.411																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2749-2754)ttaggtfs		zinc finger protein 518B																																				SO:0001589	frameshift_variant	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445201_10445202insA	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2752dupT	4.37:g.10445206_10445206dupA	ENSP00000317614:p.Gln918fs						p.LG917fs	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	3189_3190	-			917					Q96LN8	Frame_Shift_Ins	INS	ENST00000326756.3	37	c.2751_2752insT	CCDS33960.1																																																																																				0.411	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		15	157						15	157	---	---	---	---
PDS5A	23244	broad.mit.edu	37	4	39878622	39878623	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:39878622_39878623insG	ENST00000303538.8	-	19	2682_2683	c.2143_2144insC	c.(2143-2145)cagfs	p.Q715fs		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGATCGTATCTGGGGAAGGTCT	0.381																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(2143-2145)gatfs		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39878622_39878623insG	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2144dupC	4.37:g.39878626_39878626dupG	ENSP00000303427:p.Gln715fs						p.D715fs	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			19	2682_2683	-			715						Frame_Shift_Ins	INS	ENST00000303538.8	37	c.2143_2144insC	CCDS47045.1																																																																																				0.381	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		16	46						16	46	---	---	---	---
DANCR	57291	broad.mit.edu	37	4	53579389	53579389	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:53579389delA	ENST00000411630.2	+	0	234				MIR4449_ENST00000578365.1_RNA|SNORA26_ENST00000391286.1_RNA	NR_024031.1		P0C864	DANCR_HUMAN	differentiation antagonizing non-protein coding RNA																		AAAATCAAAGAAAAAAAATCA	0.423																																						ENST00000411630.2																			0																				93.0	92.0	92.0					4																	53579389		876	1991	2867			0							g.chr4:53579389delA	BC015222		4q12	2013-07-03	2012-02-09	2012-02-09	ENSG00000226950	ENSG00000226950		"""Long non-coding RNAs"", ""-"""	28964	non-coding RNA	RNA, long non-coding	"""anti-differentiation ncRNA"", ""adipogenesis up-regulated transcript 2"""	614625	"""KIAA0114"", ""small nucleolar RNA host gene 13 (non-protein coding)"""	KIAA0114, SNHG13		7788527, 22302877, 19531736	Standard	NR_024031		Approved	ANCR, AGU2	uc003gzo.2	P0C864	OTTHUMG00000154670		4.37:g.53579389delA								NR_024031.1						0	234	+								A0A024RD90	RNA	DEL	ENST00000411630.2	37																																																																																						0.423	DANCR-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000336530.1	NR_024031		9	75						9	75	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123260496	123260497	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:123260496_123260497delTT	ENST00000264501.4	+	72	12658_12659	c.12285_12286delTT	c.(12283-12288)actttafs	p.L4096fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.L4096fs			Q2LD37	K1109_HUMAN	KIAA1109	4096					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGCAGAGACTTTATCCCCTGG	0.411																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(12283-12288)actafs		KIAA1109																																				SO:0001589	frameshift_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123260496_123260497delTT	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12285_12286delTT	4.37:g.123260496_123260497delTT	ENSP00000264501:p.Leu4096fs					KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.TL4095fs	p.TL4095fs			Q2LD37	K1109_HUMAN			72	12658_12659	+			4095					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Del	DEL	ENST00000264501.4	37	c.12285_12286delTT	CCDS43267.1																																																																																				0.411	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		31	85						31	85	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129864163	129864163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:129864163delT	ENST00000281142.5	-	17	2123	c.1620delA	c.(1618-1620)aaafs	p.K540fs	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTACTTTGGCTTTTTTTTGAG	0.353																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1618-1620)aafs		sodium channel and clathrin linker 1				19,4247		7,5,2121	118.0	121.0	120.0			5.3	1.0	4		118	26,8228		12,2,4113	no	frameshift	SCLT1	NM_144643.2		19,7,6234	A1A1,A1R,RR		0.315,0.4454,0.3594			129864163	45,12475	2203	4300	6503	SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129864163delT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1620delA	4.37:g.129864163delT	ENSP00000281142:p.Lys540fs					SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	p.K540fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			17	2123	-			540					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Del	DEL	ENST00000281142.5	37	c.1620delA	CCDS3740.1																																																																																				0.353	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		24	66						24	66	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170613460	170613460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:170613460delA	ENST00000513761.1	+	7	1484	c.925delA	c.(925-927)aaafs	p.K310fs	CLCN3_ENST00000504131.2_Frame_Shift_Del_p.K293fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.K310fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.K310fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	310					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAACGAAGCTAAAAAAAGGGA	0.308																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(925-927)aafs		chloride channel, voltage-sensitive 3							98.0	98.0	98.0					4																	170613460		2203	4300	6503	SO:0001589	frameshift_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170613460delA	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.925delA	4.37:g.170613460delA	ENSP00000424603:p.Lys310fs					CLCN3_ENST00000347613.4_Frame_Shift_Del_p.K310fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.K310fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.K293fs	p.K310fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	7	1484	+		Prostate(90;0.00601)|Renal(120;0.0183)	310					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	37	c.925delA	CCDS34101.1																																																																																				0.308	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			15	125						15	125	---	---	---	---
ACSL1	2180	broad.mit.edu	37	4	185697797	185697797	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:185697797delA	ENST00000515030.1	-	7	922	c.597delT	c.(595-597)tttfs	p.F199fs	ACSL1_ENST00000504342.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000504900.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000281455.2_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.F165fs			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	199					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTTGTCAACAAAAACCAGAG	0.393																																						ENST00000515030.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38						c.(595-597)ttfs		acyl-CoA synthetase long-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						70.0	71.0	70.0					4																	185697797		2203	4300	6503	SO:0001589	frameshift_variant	2180				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr4:185697797delA	BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.597delT	4.37:g.185697797delA	ENSP00000422607:p.Phe199fs					ACSL1_ENST00000454703.2_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.F165fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000281455.2_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000504900.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.F199fs	p.F199fs			P33121	ACSL1_HUMAN		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	7	922	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)	199					B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Frame_Shift_Del	DEL	ENST00000515030.1	37	c.597delT	CCDS3839.1																																																																																				0.393	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995		16	39						16	39	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889777	889777	+	Intron	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:889777delA	ENST00000467963.1	-	4	567				TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000388890.4_Frame_Shift_Del_p.F13fs|BRD9_ENST00000323510.4_Frame_Shift_Del_p.F13fs|BRD9_ENST00000435709.2_Frame_Shift_Del_p.F13fs|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Intron	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAATTTAAGGAAAAAAAAATT	0.448																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(37-39)tcfs		bromodomain containing 9							93.0	94.0	94.0					5																	889777		2203	4300	6503	SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889777delA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-15T>-	5.37:g.889777delA						BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Del_p.F13fs|BRD9_ENST00000435709.2_Frame_Shift_Del_p.F13fs	p.F13fs			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	37	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Frame_Shift_Del	DEL	ENST00000467963.1	37	c.38delT	CCDS34127.2																																																																																				0.448	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		19	69						19	69	---	---	---	---
CWC27	10283	broad.mit.edu	37	5	64100133	64100134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:64100133_64100134insA	ENST00000381070.3	+	10	1075_1076	c.858_859insA	c.(859-861)aaafs	p.K287fs	CWC27_ENST00000508024.1_Frame_Shift_Ins_p.K287fs	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	287					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGAATTGCCAAAAAATTAAA	0.391																																						ENST00000508024.1																			1	Deletion - Frameshift(1)	p.K288fs*2(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(856-861)gcaaaafs		CWC27 spliceosome-associated protein homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64100133_64100134insA	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.864dupA	5.37:g.64100139_64100139dupA	ENSP00000370460:p.Lys287fs					CWC27_ENST00000381070.3_Frame_Shift_Ins_p.AK286fs	p.AK286fs			Q6UX04	CWC27_HUMAN			10	1059_1060	+			286					O60529|O60530|Q96EM3	Frame_Shift_Ins	INS	ENST00000381070.3	37	c.858_859insA	CCDS3982.2																																																																																				0.391	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		17	49						17	49	---	---	---	---
ZCCHC10	54819	broad.mit.edu	37	5	132335879	132335879	+	Intron	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:132335879delG	ENST00000509437.1	-	4	277				ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Intron|ZCCHC10_ENST00000513848.1_Intron|ZCCHC10_ENST00000355372.2_Intron|ZCCHC10_ENST00000513541.1_Frame_Shift_Del_p.P95fs|ZCCHC10_ENST00000509008.1_Frame_Shift_Del_p.P73fs			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAACACGAGGGGGAAAAAA	0.368																																						ENST00000513541.1																			0				skin(1)	1						c.(283-285)ctfs		zinc finger, CCHC domain containing 10							100.0	98.0	98.0					5																	132335879		2203	4300	6503	SO:0001627	intron_variant	54819						nucleic acid binding|zinc ion binding	g.chr5:132335879delG	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.270-14C>-	5.37:g.132335879delG						ZCCHC10_ENST00000355372.2_Intron|ZCCHC10_ENST00000509437.1_Intron|ZCCHC10_ENST00000513848.1_Intron|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000324170.3_Intron|ZCCHC10_ENST00000509008.1_Frame_Shift_Del_p.P73fs	p.P95fs			Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	295	-			0					Q9NXR4	Frame_Shift_Del	DEL	ENST00000509437.1	37	c.284delC																																																																																					0.368	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		19	38						19	38	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135382150	135382150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:135382150delC	ENST00000442011.2	+	4	586	c.425delC	c.(424-426)gccfs	p.A142fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.A142fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	142	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCATCTTCGCCCCTAGCAAC	0.642																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(424-426)gcfs		transforming growth factor, beta-induced, 68kDa							26.0	29.0	28.0					5																	135382150		1980	4138	6118	SO:0001589	frameshift_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135382150delC	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.425delC	5.37:g.135382150delC	ENSP00000416330:p.Ala142fs					TGFBI_ENST00000305126.8_Frame_Shift_Del_p.A142fs	p.A142fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	586	+			142			FAS1 1.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Frame_Shift_Del	DEL	ENST00000442011.2	37	c.425delC	CCDS47266.1																																																																																				0.642	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			16	13						16	13	---	---	---	---
REEP2	51308	broad.mit.edu	37	5	137777145	137777147	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137777145_137777147delCTC	ENST00000254901.5	+	3	299_301	c.177_179delCTC	c.(175-180)ctctcc>ctc	p.S60del	REEP2_ENST00000378339.2_In_Frame_Del_p.S60del|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_In_Frame_Del_p.S22del	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	60					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAGGT	0.591																																						ENST00000378339.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(175-180)ctc>ct		receptor accessory protein 2																																				SO:0001651	inframe_deletion	51308					integral to membrane		g.chr5:137777145_137777147delCTC	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.177_179delCTC	5.37:g.137777145_137777147delCTC	ENSP00000254901:p.Ser60del					REEP2_ENST00000254901.5_In_Frame_Del_p.LS59del|REEP2_ENST00000506158.1_In_Frame_Del_p.LS21del|REEP2_ENST00000464751.2_3'UTR	p.LS59del	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		3	369_371	+			59					Q53EM8|Q9NYF2	In_Frame_Del	DEL	ENST00000254901.5	37	c.177_179delCTC	CCDS4205.1																																																																																				0.591	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606		21	67						21	67	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139260510	139260510	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:139260510delC	ENST00000361474.1	-	3	1146	c.922delG	c.(922-924)gagfs	p.E308fs	NRG2_ENST00000340391.3_Frame_Shift_Del_p.E105fs|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000541337.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000394770.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000545385.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289422.7_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289409.4_Frame_Shift_Del_p.E308fs|NRG2_ENST00000358522.3_Frame_Shift_Del_p.E308fs	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	308	Ig-like C2-type.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATACTCCCCAGCGTCC	0.607																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(922-924)agfs		neuregulin 2							124.0	117.0	119.0					5																	139260510		2203	4300	6503	SO:0001589	frameshift_variant	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139260510delC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.922delG	5.37:g.139260510delC	ENSP00000354910:p.Glu308fs					NRG2_ENST00000545385.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289422.7_Frame_Shift_Del_p.E308fs|NRG2_ENST00000394770.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000340391.3_Frame_Shift_Del_p.E105fs|NRG2_ENST00000361474.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289409.4_Frame_Shift_Del_p.E308fs|NRG2_ENST00000358522.3_Frame_Shift_Del_p.E308fs|NRG2_ENST00000518130.1_5'UTR	p.E308fs	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1151	-			351			Ig-like C2-type.			Frame_Shift_Del	DEL	ENST00000361474.1	37	c.922delG	CCDS4217.1																																																																																				0.607	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		9	82						9	82	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140626377	140626378	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140626377_140626378delAG	ENST00000231173.3	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)agafs	p.R411fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGACAGAGAGACCAGA	0.475																																						ENST00000231173.3																			0				NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61						c.(1231-1233)afs																																						SO:0001589	frameshift_variant	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626377_140626378delAG	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1231_1232delAG	5.37:g.140626381_140626382delAG	ENSP00000231173:p.Arg411fs						p.R411fs	NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1231_1232	+			411			Cadherin 4.		Q8IUX5	Frame_Shift_Del	DEL	ENST00000231173.3	37	c.1231_1232delAG	CCDS4257.1																																																																																				0.475	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		36	77						36	77	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755586	140755586	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140755586delG	ENST00000517434.1	+	1	1936	c.1936delG	c.(1936-1938)gtcfs	p.V646fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	646	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(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGGCCGTCCAGGACCA	0.701																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1936-1938)tcfs									33.0	43.0	39.0					5																	140755586		2200	4294	6494	SO:0001589	frameshift_variant	0							g.chr5:140755586delG	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1936delG	5.37:g.140755586delG	ENSP00000429601:p.Val646fs					PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.V646fs	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								A6H8K7|B2RN55|Q9Y5D1	Frame_Shift_Del	DEL	ENST00000517434.1	37	c.1936delG	CCDS54926.1																																																																																				0.701	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		54	108						54	108	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178392010	178392010	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:178392010delA	ENST00000320129.3	+	5	908	c.605delA	c.(604-606)gaafs	p.E202fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.E202fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATTCATAATGAAAAAAATGCA	0.348																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(604-606)gafs		zinc finger protein 454							40.0	45.0	43.0					5																	178392010		2202	4299	6501	SO:0001589	frameshift_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392010delA	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.605delA	5.37:g.178392010delA	ENSP00000326249:p.Glu202fs					ZNF454_ENST00000519564.1_Frame_Shift_Del_p.E202fs	p.E202fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	908	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	202					Q2M1P2|Q2M323	Frame_Shift_Del	DEL	ENST00000320129.3	37	c.605delA	CCDS4441.1																																																																																				0.348	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		7	48						7	48	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)cttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485																																						ENST00000230449.4																			1	Deletion - Frameshift(1)	p.Q6fs*28(1)	ovary(1)	breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(25-27)tgtfs		exocyst complex component 2																																				SO:0001589	frameshift_variant	55770				exocytosis|protein transport			g.chr6:637793_637794insG	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.26dupC	6.37:g.637800_637800dupG	ENSP00000230449:p.Leu9fs					EXOC2_ENST00000448181.3_Intron	p.C9fs	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	2	160_161	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	9			IPT/TIG.		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Frame_Shift_Ins	INS	ENST00000230449.4	37	c.25_26insC	CCDS34327.1																																																																																				0.485	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		38	124						38	124	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30673764	30673764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30673764delG	ENST00000376406.3	-	10	3843	c.3196delC	c.(3196-3198)cttfs	p.L1067fs	MDC1_ENST00000376405.2_Frame_Shift_Del_p.L803fs|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1067	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGAGAAAGAAGGGGCGGAGGT	0.547								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3196-3198)ttfs	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							109.0	120.0	117.0					6																	30673764		2203	4300	6503	SO:0001589	frameshift_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673764delG	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3196delC	6.37:g.30673764delG	ENSP00000365588:p.Leu1067fs					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.L803fs	p.L1067fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	3843	-			1067	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Frame_Shift_Del	DEL	ENST00000376406.3	37	c.3196delC	CCDS34384.1																																																																																				0.547	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		45	162						45	162	---	---	---	---
PRRT1	80863	broad.mit.edu	37	6	32118447	32118447	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32118447delG	ENST00000211413.5	-	2	380	c.256delC	c.(256-258)cacfs	p.H87fs	PPT2_ENST00000395523.1_5'Flank|PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron|PPT2_ENST00000361568.2_5'Flank|PRRT1_ENST00000467780.1_5'Flank	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	87					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGGCGTGGTGGGGGGGCCTC	0.756																																						ENST00000211413.5																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(256-258)acfs		proline-rich transmembrane protein 1																																				SO:0001589	frameshift_variant	80863				response to biotic stimulus	integral to membrane		g.chr6:32118447delG	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.256delC	6.37:g.32118447delG	ENSP00000211413:p.His87fs					PRRT1_ENST00000375150.2_Intron|PRRT1_ENST00000375152.2_Intron	p.H87fs	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN			2	380	-			87					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Frame_Shift_Del	DEL	ENST00000211413.5	37	c.256delC	CCDS4739.1																																																																																				0.756	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		3	4						3	4	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35200688	35200688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:35200688delG	ENST00000274938.7	+	5	531	c.531delG	c.(529-531)aagfs	p.K177fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.K177fs	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGACACCCAAGGGGGGTATTG	0.517																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(529-531)aafs		signal peptide, CUB domain, EGF-like 3							126.0	125.0	125.0					6																	35200688		2203	4300	6503	SO:0001589	frameshift_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35200688delG	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.531delG	6.37:g.35200688delG	ENSP00000274938:p.Lys177fs					SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.K177fs	p.K177fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			5	531	+			177			EGF-like 4.			Frame_Shift_Del	DEL	ENST00000274938.7	37	c.531delG	CCDS4800.1																																																																																				0.517	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		36	134						36	134	---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44141052	44141052	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44141052delC	ENST00000398776.1	+	7	798	c.760delC	c.(760-762)cccfs	p.P255fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.P255fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	255	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.P254S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCCAGAGGCCCCCTCAGAA	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000542245.1																			1	Substitution - Missense(1)	p.P254S(1)	prostate(1)	breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(760-762)ccfs		calpain 11							46.0	50.0	49.0					6																	44141052		1938	4124	6062	SO:0001589	frameshift_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44141052delC	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.760delC	6.37:g.44141052delC	ENSP00000381758:p.Pro255fs		OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	CAPN11_ENST00000398776.1_Frame_Shift_Del_p.P255fs	p.P255fs			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		7	798	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		255			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Frame_Shift_Del	DEL	ENST00000398776.1	37	c.760delC	CCDS47436.1																																																																																				0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			7	78						7	78	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:70991121delG	ENST00000357250.6	-	8	1006	c.848delC	c.(847-849)cctfs	p.P283fs	COL9A1_ENST00000320755.7_Frame_Shift_Del_p.P40fs|COL9A1_ENST00000370496.3_Frame_Shift_Del_p.P283fs|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.P40fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	283	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAACTCCAGGGGGGCCCGG	0.592																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(847-849)ctfs		collagen, type IX, alpha 1							23.0	27.0	26.0					6																	70991121		2203	4300	6503	SO:0001589	frameshift_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70991121delG		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.848delC	6.37:g.70991121delG	ENSP00000349790:p.Pro283fs					COL9A1_ENST00000370496.3_Frame_Shift_Del_p.P283fs|COL9A1_ENST00000320755.7_Frame_Shift_Del_p.P40fs|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.P40fs	p.P283fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			8	1006	-			283			Triple-helical region (COL3).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Frame_Shift_Del	DEL	ENST00000357250.6	37	c.848delC	CCDS4971.1																																																																																				0.592	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			10	50						10	50	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80720539	80720539	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80720539delA	ENST00000369798.2	+	5	589	c.478delA	c.(478-480)aaafs	p.K161fs	TTK_ENST00000230510.3_Frame_Shift_Del_p.K161fs|TTK_ENST00000509894.1_Frame_Shift_Del_p.K161fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	161					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGGTAATGTCAAAAAAAGTAA	0.383																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(478-480)aafs		TTK protein kinase							43.0	46.0	45.0					6																	80720539		2202	4300	6502	SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720539delA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.478delA	6.37:g.80720539delA	ENSP00000358813:p.Lys161fs					TTK_ENST00000369798.2_Frame_Shift_Del_p.K161fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.K161fs	p.K161fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	1307	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	161					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	c.478delA	CCDS4993.1																																																																																				0.383	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			11	39						11	39	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83810593	83810593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:83810593delT	ENST00000349129.2	+	4	568	c.308delT	c.(307-309)cttfs	p.L103fs	DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.L103fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	103					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCAAAGATCTTTTTTTATAT	0.284																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(307-309)ctfs		dopey family member 1							74.0	84.0	81.0					6																	83810593		2201	4299	6500	SO:0001589	frameshift_variant	23033				protein transport			g.chr6:83810593delT	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.308delT	6.37:g.83810593delT	ENSP00000195654:p.Leu103fs					DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.L103fs	p.L103fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	4	568	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	103					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	ENST00000349129.2	37	c.308delT	CCDS4996.1																																																																																				0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		48	150						48	150	---	---	---	---
LOC101927314	101927314	broad.mit.edu	37	6	98627615	98627616	+	lincRNA	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:98627615_98627616insC	ENST00000607823.1	+	0	352																											TGAGAAGAGTGCCCCCCCTCCC	0.564																																						ENST00000607823.1																			0																																																			0							g.chr6:98627615_98627616insC																													6.37:g.98627622_98627622dupC														0	352	+									RNA	INS	ENST00000607823.1	37																																																																																						0.564	RP11-436D23.1-003	KNOWN	not_organism_supported|basic	lincRNA	lincRNA	OTTHUMT00000471318.1			3	3						3	3	---	---	---	---
SOD2	6648	broad.mit.edu	37	6	160103610	160103610	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:160103610delT	ENST00000546087.1	-	7	2273	c.446delA	c.(445-447)aatfs	p.N149fs	SOD2_ENST00000538183.2_Frame_Shift_Del_p.N195fs|SOD2_ENST00000337404.4_Frame_Shift_Del_p.N156fs|SOD2_ENST00000444946.2_Frame_Shift_Del_p.N135fs|SOD2_ENST00000367054.2_Frame_Shift_Del_p.N156fs|SOD2_ENST00000367055.4_Frame_Shift_Del_p.N195fs			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	195				Missing (in Ref. 6). {ECO:0000305}.	age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		AGGCCTGACATTTTTATACTG	0.403																																						ENST00000538183.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14						c.(583-585)atfs		superoxide dismutase 2, mitochondrial							107.0	100.0	102.0					6																	160103610		2203	4300	6503	SO:0001589	frameshift_variant	6648				age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	g.chr6:160103610delT	M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.446delA	6.37:g.160103610delT	ENSP00000442920:p.Asn149fs					SOD2_ENST00000367054.2_Frame_Shift_Del_p.N156fs|SOD2_ENST00000546087.1_Frame_Shift_Del_p.N149fs|SOD2_ENST00000367055.4_Frame_Shift_Del_p.N195fs|SOD2_ENST00000444946.2_Frame_Shift_Del_p.N135fs|SOD2_ENST00000337404.4_Frame_Shift_Del_p.N156fs	p.N195fs	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)	5	744	-		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)	195					B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Frame_Shift_Del	DEL	ENST00000546087.1	37	c.584delA																																																																																					0.403	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636		15	35						15	35	---	---	---	---
TCP10	6953	broad.mit.edu	37	6	167787857	167787858	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:167787857_167787858insG	ENST00000397829.4	-	7	937_938	c.770_771insC	c.(769-771)ccafs	p.P257fs	TCP10_ENST00000366827.2_Frame_Shift_Ins_p.P257fs	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	284						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGCACTGTCTGGGGCAGAACT	0.559																																						ENST00000366827.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18						c.(769-771)cgafs		t-complex 10																																				SO:0001589	frameshift_variant	6953					cytosol		g.chr6:167787857_167787858insG	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.771dupC	6.37:g.167787861_167787861dupG	ENSP00000380929:p.Pro257fs					TCP10_ENST00000397829.4_Frame_Shift_Ins_p.R257fs	p.R257fs			Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	7	981_982	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	284					Q5JR60|Q6P4F4	Frame_Shift_Ins	INS	ENST00000397829.4	37	c.770_771insC	CCDS43527.1																																																																																				0.559	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		7	31						7	31	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	3998621	3998622	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:3998621_3998622delTG	ENST00000404826.2	+	8	1348_1349	c.1209_1210delTG	c.(1207-1212)actgtgfs	p.V404fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.V404fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	404	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGAAGAAACTGTGGACATCGG	0.465																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(1207-1212)actgfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:3998621_3998622delTG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1209_1210delTG	7.37:g.3998623_3998624delTG	ENSP00000385899:p.Val404fs					SDK1_ENST00000389531.3_Frame_Shift_Del_p.TV403fs	p.TV403fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	8	1348_1349	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	403			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	37	c.1209_1210delTG	CCDS34590.1																																																																																				0.465	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		35	127						35	127	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4185504	4185504	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:4185504delG	ENST00000404826.2	+	29	4518	c.4379delG	c.(4378-4380)tggfs	p.W1460fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.W1460fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1460	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCAGGGCTGGGGGGAGCCA	0.642																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4378-4380)tgfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:4185504delG	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4379delG	7.37:g.4185504delG	ENSP00000385899:p.Trp1460fs					SDK1_ENST00000389531.3_Frame_Shift_Del_p.W1460fs	p.W1460fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	29	4518	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1460			Fibronectin type-III 8.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	37	c.4379delG	CCDS34590.1																																																																																				0.642	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		38	70						38	70	---	---	---	---
CYTH3	9265	broad.mit.edu	37	7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6204578delT	ENST00000350796.3	-	13	1333	c.1197delA	c.(1195-1197)aaafs	p.K399fs	CYTH3_ENST00000396741.2_Frame_Shift_Del_p.K314fs|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	400	C-terminal autoinhibitory region.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAAAGCTATTTTTTATTGG	0.532																																						ENST00000350796.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						c.(1195-1197)aafs		cytohesin 3							245.0	257.0	253.0					7																	6204578		2203	4300	6503	SO:0001589	frameshift_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6204578delT	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1197delA	7.37:g.6204578delT	ENSP00000297044:p.Lys399fs					CYTH3_ENST00000396741.2_Frame_Shift_Del_p.K314fs	p.K399fs	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN			13	1333	-			400					A4D2N8	Frame_Shift_Del	DEL	ENST00000350796.3	37	c.1197delA	CCDS5346.1																																																																																				0.532	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		14	521						14	521	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6755614	6755614	+	RNA	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6755614delG	ENST00000486256.1	+	0	346					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		CCAAGTAGCTGGGGACAGCTA	0.557																																						ENST00000486256.1																			0																																																			0							g.chr7:6755614delG	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.6755614delG								NR_002217.1						0	346	+								B4DK88|Q764P1	RNA	DEL	ENST00000486256.1	37																																																																																						0.557	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		8	26						8	26	---	---	---	---
AGR3	155465	broad.mit.edu	37	7	16913405	16913405	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:16913405delT	ENST00000310398.2	-	3	242	c.172delA	c.(172-174)agt>gt	p.S58fs	AGR3_ENST00000402239.3_Splice_Site_p.S58fs	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	58						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCATGTTACCTTTTTTGAGCA	0.333																																						ENST00000310398.2																			0				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13						c.e3+1		anterior gradient 3							103.0	102.0	102.0					7																	16913405		2203	4300	6503	SO:0001630	splice_region_variant	155465					extracellular region		g.chr7:16913405delT	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"""Protein disulfide isomerases"""	24167	protein-coding gene	gene with protein product	"""breast cancer membrane protein 11"", ""protein disulfide isomerase family A, member 18"""	609482	"""anterior gradient 3 homolog (Xenopus laevis)"""			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.173+1A>-	7.37:g.16913405delT						AGR3_ENST00000402239.3_Splice_Site_p.S58_splice	p.S58_splice	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	3	242	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		58					A4D120	Splice_Site	DEL	ENST00000310398.2	37	c.173_splice	CCDS5365.1																																																																																				0.333	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813	Frame_Shift_Del	22	47						22	47	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917567	43917567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43917567delC	ENST00000453200.1	-	6	1988	c.1495delG	c.(1495-1497)gacfs	p.D499fs	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Del_p.D456fs|URGCP_ENST00000336086.6_Frame_Shift_Del_p.D456fs|URGCP_ENST00000402306.3_Frame_Shift_Del_p.D490fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.D456fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Del_p.D456fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	499					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAGGGGTCCCCCTGCAGC	0.602																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1366-1368)acfs		upregulator of cell proliferation							90.0	96.0	94.0					7																	43917567		1988	4151	6139	SO:0001589	frameshift_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917567delC		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1495delG	7.37:g.43917567delC	ENSP00000396918:p.Asp499fs					URGCP_ENST00000453200.1_Frame_Shift_Del_p.D499fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.D456fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Frame_Shift_Del_p.D490fs|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Del_p.D456fs|URGCP_ENST00000447717.3_Frame_Shift_Del_p.D456fs	p.D456fs			Q8TCY9	URGCP_HUMAN			4	3602	-			499					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Del	DEL	ENST00000453200.1	37	c.1366delG	CCDS47578.1																																																																																				0.602	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		42	111						42	111	---	---	---	---
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44120414delG	ENST00000242248.5	-	2	391	c.290delC	c.(289-291)ccafs	p.P97fs	POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs|POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	97	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(289-291)cafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							49.0	57.0	54.0					7																	44120414		2203	4300	6503	SO:0001589	frameshift_variant	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44120414delG	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.290delC	7.37:g.44120414delG	ENSP00000242248:p.Pro97fs					POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			2	391	-			97			BRCT.		D3DVK4|Q6P5X8|Q86WQ9	Frame_Shift_Del	DEL	ENST00000242248.5	37	c.290delC	CCDS34625.1																																																																																				0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		12	151						12	151	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64526690	64526690	+	RNA	DEL	T	T	-	rs371147713		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:64526690delT	ENST00000426828.1	+	0	401				SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		AGGCCCTTCATTTTTTGGAAG	0.408																																						ENST00000426828.1																			0																																																			0							g.chr7:64526690delT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64526690delT								NR_033416.1						0	401	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.408	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			17	42						17	42	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731913	73731913	+	Frame_Shift_Del	DEL	G	G	-	rs200539524		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:73731913delG	ENST00000395060.1	+	1	37	c.37delG	c.(37-39)gggfs	p.G14fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.G14fs|CLIP2_ENST00000223398.6_Frame_Shift_Del_p.G14fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCGGCCGTGGGGGGAAGCA	0.657																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(37-39)ggfs		CAP-GLY domain containing linker protein 2							48.0	54.0	52.0					7																	73731913		2203	4300	6503	SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731913delG	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.37delG	7.37:g.73731913delG	ENSP00000378500:p.Gly14fs					CLIP2_ENST00000395060.1_Frame_Shift_Del_p.G14fs|CLIP2_ENST00000361545.5_Frame_Shift_Del_p.G14fs	p.G14fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	364	+			14					O14527|O43611	Frame_Shift_Del	DEL	ENST00000395060.1	37	c.37delG	CCDS5569.1																																																																																				0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	187						9	187	---	---	---	---
NCF1	653361	broad.mit.edu	37	7	74202414	74202414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:74202414delG	ENST00000289473.4	+	9	957	c.887delG	c.(886-888)cggfs	p.R296fs		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	296	Arg/Lys-rich (highly basic).				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CAGATCAAGCGGGGGGCGCCG	0.667																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(886-888)cgfs		neutrophil cytosolic factor 1							1.0	1.0	1.0					7																	74202414		219	155	374	SO:0001589	frameshift_variant	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74202414delG	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.887delG	7.37:g.74202414delG	ENSP00000289473:p.Arg296fs						p.R296fs	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			9	957	+			296			Arg/Lys-rich (highly basic).		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Frame_Shift_Del	DEL	ENST00000289473.4	37	c.887delG	CCDS34657.1																																																																																				0.667	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		3	5						3	5	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76111999	76112000	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:76111999_76112000insG	ENST00000324432.5	+	5	953_954	c.443_444insG	c.(442-447)ctggggfs	p.LG148fs	DTX2_ENST00000430490.2_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.LG148fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.LG57fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	148	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TTGGCCCCCCTGGGGTACAACT	0.629																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(442-444)cggfs		deltex homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76111999_76112000insG		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.447dupG	7.37:g.76112003_76112003dupG	ENSP00000322885:p.Leu148fs					DTX2_ENST00000307569.8_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.R57fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.R148fs	p.R148fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	953_954	+			148			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Ins	INS	ENST00000324432.5	37	c.443_444insG	CCDS5587.1																																																																																				0.629	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			7	64						7	64	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100210470	100210470	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100210470delG	ENST00000393950.2	+	1	338	c.56delG	c.(55-57)cggfs	p.R19fs	MOSPD3_ENST00000424091.2_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000223054.4_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000379527.2_Frame_Shift_Del_p.R19fs	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	19					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ccccctgggcgggggtcccgg	0.736																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(55-57)cgfs		motile sperm domain containing 3							12.0	15.0	14.0					7																	100210470		1983	4031	6014	SO:0001589	frameshift_variant	64598					integral to membrane	structural molecule activity	g.chr7:100210470delG	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.56delG	7.37:g.100210470delG	ENSP00000377522:p.Arg19fs					MOSPD3_ENST00000379527.2_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000223054.4_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000424091.2_Frame_Shift_Del_p.R19fs	p.R19fs	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	338	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		19					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Frame_Shift_Del	DEL	ENST00000393950.2	37	c.56delG	CCDS5701.1																																																																																				0.736	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		14	55						14	55	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102902926	102902926	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:102902926delA	ENST00000312132.4	-	0	2401							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TTAAAACATGAAAAaaaaagg	0.383																																						ENST00000312132.4																			0																																																			0							g.chr7:102902926delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102902926delA														0	2401	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.383	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	4						4	4	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:107323940delA	ENST00000265715.3	+	8	1183	c.959delA	c.(958-960)gaafs	p.E320fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	320					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCCAACCTGGAAAAAAATTAC	0.343									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(958-960)gafs		solute carrier family 26 (anion exchanger), member 4							75.0	76.0	75.0					7																	107323940		2203	4300	6503	SO:0001589	frameshift_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107323940delA	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.959delA	7.37:g.107323940delA	ENSP00000265715:p.Glu320fs						p.E320fs	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			8	1183	+			320					B7Z266|O43170	Frame_Shift_Del	DEL	ENST00000265715.3	37	c.959delA	CCDS5746.1																																																																																				0.343	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		17	56						17	56	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123256478	123256478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:123256478delA	ENST00000451558.1	+	8	742	c.221delA	c.(220-222)gaafs	p.E74fs	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	74					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCTGATGAAAAAGGATGG	0.353																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(220-222)gafs		ankyrin repeat and SOCS box containing 15							105.0	97.0	100.0					7																	123256478		2202	4300	6502	SO:0001589	frameshift_variant	142685				intracellular signal transduction			g.chr7:123256478delA	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.221delA	7.37:g.123256478delA	ENSP00000397655:p.Glu74fs					RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000451215.1_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.E74fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.E74fs	p.E74fs			Q8WXK1	ASB15_HUMAN			8	742	+			74					Q3ZCP3|Q3ZCP5|Q68D37	Frame_Shift_Del	DEL	ENST00000451558.1	37	c.221delA	CCDS34742.1																																																																																				0.353	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			16	14						16	14	---	---	---	---
HIPK2	28996	broad.mit.edu	37	7	139299042	139299042	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139299042delG	ENST00000406875.3	-	8	2074	c.1980delC	c.(1978-1980)cccfs	p.P660fs	HIPK2_ENST00000428878.2_Frame_Shift_Del_p.P633fs|HIPK2_ENST00000342645.6_Frame_Shift_Del_p.P660fs	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	660	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTTGGAAGCCGGGGGGACACA	0.602																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1978-1980)ccfs		homeodomain interacting protein kinase 2							24.0	29.0	27.0					7																	139299042		1958	4146	6104	SO:0001589	frameshift_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139299042delG	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1980delC	7.37:g.139299042delG	ENSP00000385571:p.Pro660fs					HIPK2_ENST00000342645.6_Frame_Shift_Del_p.P660fs|HIPK2_ENST00000428878.2_Frame_Shift_Del_p.P633fs	p.P660fs	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			8	2074	-	Melanoma(164;0.205)		660			Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Frame_Shift_Del	DEL	ENST00000406875.3	37	c.1980delC																																																																																					0.602	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		10	33						10	33	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149493460	149493460	+	RNA	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149493460delT	ENST00000378016.2	+	0	6536							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGCAGCTTTTCCCCAGA	0.572																																						ENST00000378016.2																			0													SCO-spondin							92.0	104.0	100.0					7																	149493460		2104	4213	6317			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493460delT	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493460delT										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6536	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.572	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				12	128						12	128	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150707211delC	ENST00000297494.3	+	21	2878	c.2521delC	c.(2521-2523)cccfs	p.P842fs	NOS3_ENST00000461406.1_Frame_Shift_Del_p.P636fs|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGGCCCTCCCCCCGGCTG	0.652																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2521-2523)ccfs		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)																																			SO:0001589	frameshift_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150707211delC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2521delC	7.37:g.150707211delC	ENSP00000297494:p.Pro842fs					NOS3_ENST00000461406.1_Frame_Shift_Del_p.P636fs	p.P842fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	2878	+	all_neural(206;0.219)		842			FAD-binding FR-type.		Q495E5	Frame_Shift_Del	DEL	ENST00000297494.3	37	c.2521delC	CCDS5912.1																																																																																				0.652	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		9	83						9	83	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8176649	8176649	+	Frame_Shift_Del	DEL	G	G	-	rs374751432		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:8176649delG	ENST00000520004.1	-	6	3500	c.3236delC	c.(3235-3237)cctfs	p.P1079fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.P1079fs			Q86YV5	SG223_HUMAN		1081	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCCTGGGCAGGGGGGTGTGT	0.706																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3235-3237)ctfs									34.0	42.0	39.0					8																	8176649		2147	4228	6375	SO:0001589	frameshift_variant	0						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176649delG																												ENST00000520004.1:c.3236delC	8.37:g.8176649delG	ENSP00000428054:p.Pro1079fs					SGK223_ENST00000330777.4_Frame_Shift_Del_p.P1079fs	p.P1079fs			Q86YV5	SG223_HUMAN			6	3500	-			1079			Protein kinase.		Q8N3N5	Frame_Shift_Del	DEL	ENST00000520004.1	37	c.3236delC	CCDS43706.1																																																																																				0.706	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			21	153						21	153	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9623921	9623922	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:9623921_9623922insTA	ENST00000310430.6	+	25	3752_3753	c.3726_3727insTA	c.(3727-3729)tatfs	p.Y1243fs	TNKS_ENST00000518281.1_Frame_Shift_Ins_p.Y1006fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1243	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACAGGTCATGCTATATATGTCA	0.406																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3724-3729)tgatatfs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase																																				SO:0001589	frameshift_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623921_9623922insTA	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3731_3732dupTA	8.37:g.9623926_9623927dupTA	ENSP00000311579:p.Tyr1243fs					TNKS_ENST00000518281.1_Frame_Shift_Ins_p.*Y1005fs	p.*Y1242fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	25	3752_3753	+			1242			PARP catalytic.		O95272|Q4G0F2	Frame_Shift_Ins	INS	ENST00000310430.6	37	c.3726_3727insTA	CCDS5974.1																																																																																				0.406	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		9	123						9	123	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24167473	24167473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:24167473delA	ENST00000265769.4	+	3	327	c.217delA	c.(217-219)aaafs	p.K74fs	ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Frame_Shift_Del_p.K74fs|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	74					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCTTTATTTGAAAAAAAACAA	0.333																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Insertion - Frameshift(1)	p.N75fs*15(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(217-219)aafs		ADAM metallopeptidase domain 28			,	7,4247		0,7,2120	46.0	54.0	51.0		,	3.6	1.0	8		52	8,8238		1,6,4116	no	frameshift,frameshift	ADAM28	NM_021777.3,NM_014265.4	,	1,13,6236	A1A1,A1R,RR		0.097,0.1646,0.12	,	,	24167473	15,12485	2200	4297	6497	SO:0001589	frameshift_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167473delA	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.217delA	8.37:g.24167473delA	ENSP00000265769:p.Lys74fs					ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Frame_Shift_Del_p.K74fs|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	p.K74fs	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	3	327	+		Prostate(55;0.0959)	74					B2RMV5|Q9Y339|Q9Y3S0	Frame_Shift_Del	DEL	ENST00000265769.4	37	c.217delA	CCDS34865.1																																																																																				0.333	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		18	63						18	63	---	---	---	---
AGPAT6	137964	broad.mit.edu	37	8	41456800	41456800	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:41456800delA	ENST00000396987.3	+	2	1069	c.142delA	c.(142-144)aaafs	p.K48fs		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	48					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACTCTACATGAAAAGTCTGTT	0.428																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(142-144)aafs		1-acylglycerol-3-phosphate O-acyltransferase 6							122.0	116.0	118.0					8																	41456800		2203	4300	6503	SO:0001589	frameshift_variant	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456800delA	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.142delA	8.37:g.41456800delA	ENSP00000380184:p.Lys48fs						p.K48fs	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1069	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	48					Q86V89	Frame_Shift_Del	DEL	ENST00000396987.3	37	c.142delA	CCDS6117.1																																																																																				0.428	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		33	91						33	91	---	---	---	---
RP11-586K2.1	0	broad.mit.edu	37	8	89498122	89498122	+	RNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:89498122delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							aacagctatgaaaaaaaaaac	0.383																																						ENST00000521433.1																			0																																																			0							g.chr8:89498122delA																													8.37:g.89498122delA						RP11-586K2.1_ENST00000523254.1_RNA								0	179	+									RNA	DEL	ENST00000521433.1	37																																																																																						0.383	RP11-586K2.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000375309.2			8	6						8	6	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100887781	100887781	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:100887781delC	ENST00000358544.2	+	62	12067	c.11956delC	c.(11956-11958)cccfs	p.P3987fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.P3962fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3987					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCAGAACCTCCCCCCTCCAC	0.468																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11956-11958)ccfs		vacuolar protein sorting 13 homolog B (yeast)							148.0	127.0	134.0					8																	100887781		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100887781delC	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11956delC	8.37:g.100887781delC	ENSP00000351346:p.Pro3987fs					VPS13B_ENST00000357162.2_Frame_Shift_Del_p.P3962fs|VPS13B_ENST00000395996.1_3'UTR	p.P3987fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		62	12067	+	Breast(36;3.73e-07)		3987					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.11956delC	CCDS6280.1																																																																																				0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		40	100						40	100	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:116426269_116426270insT	ENST00000220888.5	-	6	3986_3987	c.3827_3828insA	c.(3826-3828)aatfs	p.N1276fs	TRPS1_ENST00000395715.3_Frame_Shift_Ins_p.N1289fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.N1030fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.N1280fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276	Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome																													ENST00000395715.3																			2	Deletion - Frameshift(2)	p.N1289fs*>6(1)|p.N1276fs*>6(1)	lung(2)	autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(3865-3867)aggfs		trichorhinophalangeal syndrome I																																				SO:0001589	frameshift_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426269_116426270insT	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3828dupA	8.37:g.116426276_116426276dupT	ENSP00000220888:p.Asn1276fs					TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs	p.R1289fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		7	4443_4444	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1276					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Ins	INS	ENST00000220888.5	37	c.3866_3867insA																																																																																					0.381	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		38	110						38	110	---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144812678	144812679	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144812678_144812679delTT	ENST00000388913.3	-	2	199_200	c.74_75delAA	c.(73-75)aaafs	p.K25fs	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	25					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTAGTACTCTTTGTAGTGAGG	0.683																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(73-75)afs		family with sequence similarity 83, member H																																				SO:0001589	frameshift_variant	286077				biomineral tissue development			g.chr8:144812678_144812679delTT	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.74_75delAA	8.37:g.144812678_144812679delTT	ENSP00000373565:p.Lys25fs						p.K25fs	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	199_200	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		25					A0JLS2|Q8N4W0	Frame_Shift_Del	DEL	ENST00000388913.3	37	c.74_75delAA	CCDS6410.2																																																																																				0.683	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		18	42						18	42	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145742551	145742551	+	5'Flank	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145742551delC	ENST00000292524.1	+	0	0				LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Frame_Shift_Del_p.G79fs	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGATGGGGCCCCCAGCAGC	0.692																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(235-237)ggfs	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							10.0	12.0	11.0					8																	145742551		1866	4096	5962	SO:0001631	upstream_gene_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145742551delC	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145742551delC	Exception_encountered					RECQL4_ENST00000532237.1_5'UTR	p.G79fs	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	278	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		79					A8K0A8|D3DWM8	Frame_Shift_Del	DEL	ENST00000292524.1	37	c.237delG	CCDS6432.1																																																																																				0.692	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		7	26						7	26	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2119528	2119528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:2119528delT	ENST00000382203.1	+	26	3964	c.3755delT	c.(3754-3756)cttfs	p.L1252fs	SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.L1252fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1252					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAATTTGACCTTTTTATGGTA	0.413																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3754-3756)ctfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							91.0	83.0	86.0					9																	2119528		2203	4300	6503	SO:0001589	frameshift_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2119528delT	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3755delT	9.37:g.2119528delT	ENSP00000371638:p.Leu1252fs					SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.L1252fs	p.L1252fs			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	26	3964	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1252					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Frame_Shift_Del	DEL	ENST00000382203.1	37	c.3755delT	CCDS34977.1																																																																																				0.413	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		15	36						15	36	---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-	rs369386439		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:108382270delT	ENST00000223528.2	+	9	1224	c.1100delT	c.(1099-1101)gttfs	p.V367fs	FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	367					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1099-1101)gtfs		fukutin							67.0	69.0	68.0					9																	108382270		2203	4298	6501	SO:0001589	frameshift_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108382270delT		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1100delT	9.37:g.108382270delT	ENSP00000223528:p.Val367fs					FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron	p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			9	1224	+			367					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Frame_Shift_Del	DEL	ENST00000223528.2	37	c.1100delT	CCDS6766.1																																																																																				0.348	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		18	23						18	23	---	---	---	---
ZFP37	7539	broad.mit.edu	37	9	115806153	115806154	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:115806153_115806154insT	ENST00000374227.3	-	4	771_772	c.744_745insA	c.(742-747)aaacatfs	p.H249fs	ZFP37_ENST00000555206.1_Frame_Shift_Ins_p.H250fs|ZFP37_ENST00000553380.1_Frame_Shift_Ins_p.H264fs	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K248K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTTGTCATGTTTTTTGCCAG	0.361																																						ENST00000374227.3																			1	Substitution - coding silent(1)	p.K248K(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(742-747)aaatgafs		ZFP37 zinc finger protein				0,4264		0,0,2132						0.8	0.8			232	1,8253		0,1,4126	no	frameshift	ZFP37	NM_003408.1		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115806153_115806154insT	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.745dupA	9.37:g.115806159_115806159dupT	ENSP00000363344:p.His249fs					ZFP37_ENST00000553380.1_Frame_Shift_Ins_p.*264fs|ZFP37_ENST00000555206.1_Frame_Shift_Ins_p.*250fs	p.*249fs			Q9Y6Q3	ZFP37_HUMAN			4	771_772	-			249					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Frame_Shift_Ins	INS	ENST00000374227.3	37	c.744_745insA	CCDS6787.1																																																																																				0.361	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		21	161						21	161	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133759623	133759623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133759623delC	ENST00000318560.5	+	11	2327	c.1946delC	c.(1945-1947)accfs	p.T649fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	649					actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTGGCTTTCACCCCCTTGGAC	0.682			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1945-1947)acfs		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						31.0	35.0	34.0					9																	133759623		2203	4299	6502	SO:0001589	frameshift_variant	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759623delC	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1946delC	9.37:g.133759623delC	ENSP00000323315:p.Thr649fs						p.T649fs	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2327	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	649					A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Frame_Shift_Del	DEL	ENST00000318560.5	37	c.1946delC	CCDS35166.1																																																																																				0.682	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		31	80						31	80	---	---	---	---
SURF4	6836	broad.mit.edu	37	9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(799-801)del		surfeit 4				1,4263		0,1,2131						5.4	1.0			83	1,8253		0,1,4126	no	coding	SURF4	NM_033161.2		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001651	inframe_deletion	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230378_136230380delCTT		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.799_801delAAG	9.37:g.136230384_136230386delCTT	ENSP00000361057:p.Lys267del					SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000485435.2_Intron	p.K267del	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	928_930	-			267					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	In_Frame_Del	DEL	ENST00000371989.3	37	c.799_801delAAG	CCDS6968.1																																																																																				0.547	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		9	30						9	30	---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:18834895delA	ENST00000377304.4	-	11	1795	c.1377delT	c.(1375-1377)tttfs	p.F459fs	RP11-499P20.2_ENST00000425669.1_RNA|NSUN6_ENST00000493816.1_5'Flank|RP11-499P20.2_ENST00000436485.1_RNA	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	459							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTGCAATAAAAAAACCTA	0.393																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1375-1377)ttfs		NOP2/Sun domain family, member 6							93.0	102.0	99.0					10																	18834895		2203	4300	6503	SO:0001589	frameshift_variant	221078						methyltransferase activity|RNA binding	g.chr10:18834895delA	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.1377delT	10.37:g.18834895delA	ENSP00000366519:p.Phe459fs						p.F459fs	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			11	1795	-			459					B0YJ54	Frame_Shift_Del	DEL	ENST00000377304.4	37	c.1377delT	CCDS7130.1																																																																																				0.393	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		10	181						10	181	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821328	51821328	+	RNA	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:51821328delG	ENST00000456967.1	-	0	1306					NR_038275.1																						CGGTCAGCTTGGGGGGTGCGA	0.517																																						ENST00000456967.1																			0																																																			0							g.chr10:51821328delG																													10.37:g.51821328delG								NR_038275.1						0	1306	-									RNA	DEL	ENST00000456967.1	37																																																																																						0.517	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			58	144						58	144	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		73	234						73	234	---	---	---	---
ATAD1	84896	broad.mit.edu	37	10	89550131	89550132	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:89550131_89550132delTG	ENST00000308448.7	-	4	695_696	c.317_318delCA	c.(316-318)acafs	p.T106fs	ATAD1_ENST00000541004.1_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000400215.3_Frame_Shift_Del_p.T48fs|ATAD1_ENST00000328142.3_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000495903.1_5'UTR	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	106					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTAAGATGACTGTGTCTTTCAG	0.361																																						ENST00000308448.7																			0				kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10						c.(316-318)afs		ATPase family, AAA domain containing 1																																				SO:0001589	frameshift_variant	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89550131_89550132delTG	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.317_318delCA	10.37:g.89550133_89550134delTG	ENSP00000339017:p.Thr106fs					ATAD1_ENST00000541004.1_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000400215.3_Frame_Shift_Del_p.T48fs|ATAD1_ENST00000328142.3_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000495903.1_5'UTR	p.T106fs	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	4	695_696	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	106					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Frame_Shift_Del	DEL	ENST00000308448.7	37	c.317_318delCA	CCDS7386.1																																																																																				0.361	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		18	44						18	44	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104176689	104176689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104176689delG	ENST00000020673.5	-	2	633	c.107delC	c.(106-108)ccafs	p.P36fs	FBXL15_ENST00000224862.3_5'Flank|FBXL15_ENST00000369956.2_5'Flank|PSD_ENST00000406432.1_Frame_Shift_Del_p.P36fs|PSD_ENST00000492902.2_5'UTR	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	36	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CATGCTGGCTGGGGGGCTCTG	0.677																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(106-108)cafs		pleckstrin and Sec7 domain containing							23.0	24.0	24.0					10																	104176689		2157	4263	6420	SO:0001589	frameshift_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104176689delG	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.107delC	10.37:g.104176689delG	ENSP00000020673:p.Pro36fs					PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Del_p.P36fs	p.P36fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	2	633	-			36			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Frame_Shift_Del	DEL	ENST00000020673.5	37	c.107delC	CCDS31272.1																																																																																				0.677	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			8	82						8	82	---	---	---	---
OR8U1	219417	broad.mit.edu	37	11	56143598	56143613	+	Frame_Shift_Del	DEL	TCCTATTGCCACTCCA	TCCTATTGCCACTCCA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56143598_56143613delTCCTATTGCCACTCCA	ENST00000302270.1	+	1	499_514	c.499_514delTCCTATTGCCACTCCA	c.(499-516)tcctattgccactccaacfs	p.SYCHSN167fs		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTTCCGCCTCTCCTATTGCCACTCCAACATTGTCAA	0.458																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(499-516)acfs		olfactory receptor, family 8, subfamily U, member 1																																				SO:0001589	frameshift_variant	219417							g.chr11:56143598_56143613delTCCTATTGCCACTCCA	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.499_514delTCCTATTGCCACTCCA	11.37:g.56143598_56143613delTCCTATTGCCACTCCA	ENSP00000304188:p.Ser167fs						p.SYCHSN167fs	NM_001005204.1	NP_001005204.1					1	499_514	+	Esophageal squamous(21;0.00448)								Frame_Shift_Del	DEL	ENST00000302270.1	37	c.499_514delTCCTATTGCCACTCCA	CCDS41647.1																																																																																				0.458	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		13	367						13	367	---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64129351delC	ENST00000334205.4	+	8	848	c.783delC	c.(781-783)ttcfs	p.F261fs	RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.F261fs|RPS6KA4_ENST00000528057.1_Frame_Shift_Del_p.F261fs	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	261	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCTCCCTTCCCCCCTCGGA	0.692																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(781-783)ttfs		ribosomal protein S6 kinase, 90kDa, polypeptide 4							43.0	49.0	47.0					11																	64129351		2200	4293	6493	SO:0001589	frameshift_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64129351delC	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.783delC	11.37:g.64129351delC	ENSP00000333896:p.Phe261fs					RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.F261fs|RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.F261fs	p.F261fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			8	871	+			261			Protein kinase 1.		A8K7Z8|O75585|Q53ES8	Frame_Shift_Del	DEL	ENST00000334205.4	37	c.783delC	CCDS8073.1																																																																																				0.692	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		40	133						40	133	---	---	---	---
CNIH2	254263	broad.mit.edu	37	11	66050214	66050215	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66050214_66050215insA	ENST00000311445.6	+	3	419_420	c.161_162insA	c.(160-165)ttaaaafs	p.LK54fs	CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000528852.1_Frame_Shift_Ins_p.LK54fs|YIF1A_ENST00000526497.1_5'Flank	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	54					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCGAGCGTTTAAAAAACATCG	0.649											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000528852.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(160-162)taafs		cornichon family AMPA receptor auxiliary protein 2																																				SO:0001589	frameshift_variant	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66050214_66050215insA	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"""cornichon homolog 2 (Drosophila)"""			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.167dupA	11.37:g.66050220_66050220dupA	ENSP00000310003:p.Leu54fs		OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	CNIH2_ENST00000311445.6_Frame_Shift_Ins_p.*54fs|CNIH2_ENST00000530519.1_3'UTR	p.*54fs			Q6PI25	CNIH2_HUMAN			3	428_429	+			54						Frame_Shift_Ins	INS	ENST00000311445.6	37	c.161_162insA	CCDS8131.1																																																																																				0.649	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		18	41						18	41	---	---	---	---
MTL5	9633	broad.mit.edu	37	11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68517872delC	ENST00000255087.5	-	2	440	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs|MTL5_ENST00000443940.2_Frame_Shift_Del_p.G86fs|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751																																						ENST00000443940.2																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(256-258)gcfs		metallothionein-like 5, testis-specific (tesmin)							8.0	8.0	8.0					11																	68517872		2153	4189	6342	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68517872delC	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.257delG	11.37:g.68517872delC	ENSP00000255087:p.Gly86fs					MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs	p.G86fs			Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		2	343	-	Esophageal squamous(3;4.37e-12)		86					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.257delG	CCDS8184.1																																																																																				0.751	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		5	7						5	7	---	---	---	---
UCP3	7352	broad.mit.edu	37	11	73714927	73714927	+	Frame_Shift_Del	DEL	G	G	-	rs145884716		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:73714927delG	ENST00000314032.4	-	6	1321	c.769delC	c.(769-771)ctcfs	p.L257fs	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Frame_Shift_Del_p.L155fs|UCP3_ENST00000426995.2_Frame_Shift_Del_p.L257fs	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ATACAGTCGAGGGGGCTGAAG	0.617																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(769-771)tcfs		uncoupling protein 3 (mitochondrial, proton carrier)							79.0	85.0	83.0					11																	73714927		2200	4293	6493	SO:0001589	frameshift_variant	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73714927delG	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.769delC	11.37:g.73714927delG	ENSP00000323740:p.Leu257fs					UCP3_ENST00000426995.2_Frame_Shift_Del_p.L257fs|UCP3_ENST00000348534.4_Frame_Shift_Del_p.L155fs	p.L257fs	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			6	1321	-	Breast(11;2.08e-05)		257					O60475|Q96HL3	Frame_Shift_Del	DEL	ENST00000314032.4	37	c.769delC	CCDS8229.1																																																																																				0.617	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		42	152						42	152	---	---	---	---
FAM181B	220382	broad.mit.edu	37	11	82443609	82443611	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:82443609_82443611delGGC	ENST00000329203.3	-	1	1295_1297	c.1161_1163delGCC	c.(1159-1164)ccgccc>ccc	p.387_388PP>P		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	387	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						CACCTGATGGGGCGGCGGCGGCG	0.704																																						ENST00000329203.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1159-1164)ccc>cc		family with sequence similarity 181, member B				1,19,3244		0,0,1,0,19,1612						0.7	0.2			7	6,62,7100		1,0,4,5,52,3522	no	codingComplex	FAM181B	NM_175885.3		1,0,5,5,71,5134	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9487,0.6127,0.8436				7,81,10344				SO:0001651	inframe_deletion	220382							g.chr11:82443609_82443611delGGC	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1161_1163delGCC	11.37:g.82443618_82443620delGGC	ENSP00000365295:p.Pro388del						p.PP387del	NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN			1	1295_1297	-			387			Pro-rich.		B2RWP1	In_Frame_Del	DEL	ENST00000329203.3	37	c.1161_1163delGCC	CCDS31648.1																																																																																				0.704	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885		7	34						7	34	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	lincRNA	DEL	T	T	-	rs545871933	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378																																						ENST00000528496.1																			0																																																			0							g.chr11:112332121delT																													11.37:g.112332121delT														0	231	+									RNA	DEL	ENST00000528496.1	37																																																																																						0.378	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			3	4						3	4	---	---	---	---
VPS26B	112936	broad.mit.edu	37	11	134095073	134095074	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:134095073_134095074delAG	ENST00000281187.5	+	1	535_536	c.57_58delAG	c.(55-60)gcagagfs	p.E20fs	NCAPD3_ENST00000526422.1_5'Flank|VPS26B_ENST00000525095.2_Frame_Shift_Del_p.E20fs|NCAPD3_ENST00000534548.2_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	20					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGAACGATGCAGAGAGTAGGAA	0.619																																					Colon(171;1263 1952 15904 45703 47982)	ENST00000281187.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(55-60)gcagfs		vacuolar protein sorting 26 homolog B (S. pombe)																																				SO:0001589	frameshift_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134095073_134095074delAG		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.57_58delAG	11.37:g.134095077_134095078delAG	ENSP00000281187:p.Glu20fs					VPS26B_ENST00000525095.2_Frame_Shift_Del_p.AE19fs	p.AE19fs	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	1	535_536	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	19					Q96A55	Frame_Shift_Del	DEL	ENST00000281187.5	37	c.57_58delAG	CCDS8495.1																																																																																				0.619	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		14	30						14	30	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-	rs201636547		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:1017928delC	ENST00000315939.6	+	28	7762	c.7119delC	c.(7117-7119)aacfs	p.N2373fs	WNK1_ENST00000537687.1_Frame_Shift_Del_p.N2633fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.N2125fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.N2871fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.N1966fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2373					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATCAGCAACCCCCCAGGCT	0.562																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(7897-7899)aafs		WNK lysine deficient protein kinase 1							54.0	58.0	56.0					12																	1017928		2203	4300	6503	SO:0001589	frameshift_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1017928delC	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.7119delC	12.37:g.1017928delC	ENSP00000313059:p.Asn2373fs					WNK1_ENST00000340908.4_Frame_Shift_Del_p.N1966fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.N2125fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.N2871fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.N2373fs	p.N2633fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		28	8542	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2373					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Del	DEL	ENST00000315939.6	37	c.7899delC	CCDS8506.1																																																																																				0.562	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		27	63						27	63	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6701672delT	ENST00000357008.2	-	19	2998	c.2835delA	c.(2833-2835)aaafs	p.K945fs	CHD4_ENST00000544484.1_Frame_Shift_Del_p.K942fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K938fs|CHD4_ENST00000309577.6_Frame_Shift_Del_p.K945fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGTCATGCAGTTTTTTTATCT	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2833-2835)aafs		chromodomain helicase DNA binding protein 4							94.0	95.0	95.0					12																	6701672		2203	4300	6503	SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701672delT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2835delA	12.37:g.6701672delT	ENSP00000349508:p.Lys945fs					CHD4_ENST00000544484.1_Frame_Shift_Del_p.K942fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K945fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K938fs	p.K945fs			Q14839	CHD4_HUMAN			19	2998	-			945					Q8IXZ5	Frame_Shift_Del	DEL	ENST00000357008.2	37	c.2835delA	CCDS8552.1																																																																																				0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		36	117						36	117	---	---	---	---
C3AR1	719	broad.mit.edu	37	12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8212678delA	ENST00000307637.4	-	2	307	c.104delT	c.(103-105)ttafs	p.L36fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	36					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAATCCCAGTAAAAAAGTAAG	0.527																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(103-105)tafs		complement component 3a receptor 1							71.0	73.0	73.0					12																	8212678		2203	4300	6503	SO:0001589	frameshift_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212678delA	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.104delT	12.37:g.8212678delA	ENSP00000302079:p.Leu36fs						p.L36fs	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	307	-			36					O43771|Q92868	Frame_Shift_Del	DEL	ENST00000307637.4	37	c.104delT	CCDS8588.1																																																																																				0.527	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			32	97						32	97	---	---	---	---
A2M	2	broad.mit.edu	37	12	9227323	9227323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:9227323delA	ENST00000318602.7	-	29	3896	c.3589delT	c.(3589-3591)tacfs	p.Y1197fs		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1197					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGGGGTTCGTAAAAATGCCCC	0.512																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3589-3591)acfs		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						56.0	60.0	58.0					12																	9227323		2203	4300	6503	SO:0001589	frameshift_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9227323delA	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3589delT	12.37:g.9227323delA	ENSP00000323929:p.Tyr1197fs						p.Y1197fs	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			29	3896	-			1197					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Frame_Shift_Del	DEL	ENST00000318602.7	37	c.3589delT	CCDS44827.1																																																																																				0.512	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	36						7	36	---	---	---	---
TAS2R46	259292	broad.mit.edu	37	12	11214013	11214013	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:11214013delA	ENST00000533467.1	-	1	880	c.881delT	c.(880-882)ttgfs	p.L294fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	294					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CACATGCCACAAAACTGAAAG	0.413																																						ENST00000533467.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(880-882)tgfs		taste receptor, type 2, member 46							187.0	188.0	188.0					12																	11214013		2041	4242	6283	SO:0001589	frameshift_variant	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214013delA	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.881delT	12.37:g.11214013delA	ENSP00000436450:p.Leu294fs					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.L294fs	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	880	-			294					P59548|Q645X6	Frame_Shift_Del	DEL	ENST00000533467.1	37	c.881delT	CCDS53748.1																																																																																				0.413	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		12	273						12	273	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12870961	12870962	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12870961_12870962insT	ENST00000228872.4	+	1	904_905	c.188_189insT	c.(187-192)gattttfs	p.DF63fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.DF63fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	63					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGGAATTTCGATTTTCAGAATC	0.574																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(187-189)gttfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870961_12870962insT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.192dupT	12.37:g.12870965_12870965dupT	ENSP00000228872:p.Asp63fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.V63fs	p.V63fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	904_905	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	63					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.188_189insT	CCDS8653.1																																																																																				0.574	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		38	138						38	138	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14781608	14781608	+	Frame_Shift_Del	DEL	T	T	-	rs145875994	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14781608delT	ENST00000261170.3	-	20	2357	c.2221delA	c.(2221-2223)attfs	p.I741fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GTAGTCTCAATTTTTTTGAAA	0.348																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2221-2223)ttfs		guanylate cyclase 2C (heat stable enterotoxin receptor)							137.0	149.0	145.0					12																	14781608		2202	4299	6501	SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14781608delT		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2221delA	12.37:g.14781608delT	ENSP00000261170:p.Ile741fs						p.I741fs	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			20	2357	-			741			Protein kinase.		B2RMY6	Frame_Shift_Del	DEL	ENST00000261170.3	37	c.2221delA	CCDS8664.1																																																																																				0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			33	66						33	66	---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28122931	28122932	+	Intron	INS	-	-	AT			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:28122931_28122932insAT	ENST00000545234.1	-	3	519				PTHLH_ENST00000201015.4_Intron|PTHLH_ENST00000395868.3_De_novo_Start_OutOfFrame|PTHLH_ENST00000538310.1_5'Flank|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000535992.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000539239.1_5'Flank			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAAACCCACATATATATACA	0.5																																						ENST00000395868.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10								parathyroid hormone-like hormone																																				SO:0001627	intron_variant	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28122931_28122932insAT		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.21+25->AT	12.37:g.28122938_28122939dupAT						PTHLH_ENST00000545234.1_Intron|PTHLH_ENST00000201015.4_Intron|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000395872.1_Intron		NM_198964.1	NP_945315.1	P12272	PTHR_HUMAN			0	48_49	-	Lung SC(9;0.184)							Q15251|Q6FH74	Translation_Start_Site	INS	ENST00000545234.1	37		CCDS44853.1																																																																																				0.500	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		52	155						52	155	---	---	---	---
FAM186B	84070	broad.mit.edu	37	12	49999241	49999241	+	Frame_Shift_Del	DEL	G	G	-	rs377032725		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49999241delG	ENST00000257894.2	-	1	181	c.20delC	c.(19-21)ccafs	p.P7fs	FAM186B_ENST00000551047.1_Frame_Shift_Del_p.P7fs|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	7						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAACTGTGGGGGGTCATC	0.522																																						ENST00000257894.2																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(19-21)cafs		family with sequence similarity 186, member B							97.0	81.0	87.0					12																	49999241		2203	4300	6503	SO:0001589	frameshift_variant	84070					protein complex		g.chr12:49999241delG	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.20delC	12.37:g.49999241delG	ENSP00000257894:p.Pro7fs					FAM186B_ENST00000551047.1_Frame_Shift_Del_p.P7fs|FAM186B_ENST00000544141.1_5'UTR	p.P7fs	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN			1	181	-			7					B4DZ15|Q8TCP7|Q9H0L3	Frame_Shift_Del	DEL	ENST00000257894.2	37	c.20delC	CCDS8788.1																																																																																				0.522	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		8	28						8	28	---	---	---	---
KRT78	196374	broad.mit.edu	37	12	53242577	53242577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:53242577delC	ENST00000304620.4	-	1	201	c.138delG	c.(136-138)gggfs	p.G46fs	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	46	Gly-rich.|Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCAGGCACCCCCCAAAGG	0.677																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(136-138)ggfs		keratin 78							19.0	22.0	21.0					12																	53242577		2202	4300	6502	SO:0001589	frameshift_variant	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242577delC	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.138delG	12.37:g.53242577delC	ENSP00000306261:p.Gly46fs						p.G46fs	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	201	-			46			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Frame_Shift_Del	DEL	ENST00000304620.4	37	c.138delG	CCDS8840.1																																																																																				0.677	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		10	33						10	33	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55795222	55795222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:55795222delA	ENST00000379665.2	+	1	1009	c.910delA	c.(910-912)aaafs	p.K305fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGAATTCACCAAAAAAATATT	0.353																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(910-912)aafs		olfactory receptor, family 6, subfamily C, member 65							30.0	30.0	30.0					12																	55795222		2201	4298	6499	SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795222delA		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.910delA	12.37:g.55795222delA	ENSP00000368986:p.Lys305fs						p.K305fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	1009	+			305					B2RNH9	Frame_Shift_Del	DEL	ENST00000379665.2	37	c.910delA	CCDS31821.1																																																																																				0.353	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			7	31						7	31	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:57883053delT	ENST00000262027.5	+	3	338	c.204delT	c.(202-204)tatfs	p.Y68fs	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_5'Flank|ARHGAP9_ENST00000393797.2_5'Flank	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(202-204)tafs		methionyl-tRNA synthetase	L-Methionine(DB00134)						103.0	103.0	103.0					12																	57883053		2203	4300	6503	SO:0001589	frameshift_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883053delT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.204delT	12.37:g.57883053delT	ENSP00000262027:p.Tyr68fs					MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	p.Y68fs	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		3	338	+			68					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Del	DEL	ENST00000262027.5	37	c.204delT	CCDS8942.1																																																																																				0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		20	56						20	56	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-	rs577942747		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69233090delC	ENST00000350057.5	+	9	862	c.862delC	c.(862-864)cccfs	p.P289fs	MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000462284.1_Frame_Shift_Del_p.P320fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	314	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(955-957)ccfs		MDM2 oncogene, E3 ubiquitin protein ligase							114.0	100.0	105.0					12																	69233090		1877	4119	5996	SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233090delC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.862delC	12.37:g.69233090delC	ENSP00000266624:p.Pro289fs					MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Del_p.P289fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs	p.P320fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		11	1257	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		314			Necessary for interaction with USP2.|Region II.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Del	DEL	ENST00000350057.5	37	c.955delC																																																																																					0.428	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		31	94						31	94	---	---	---	---
CPSF6	11052	broad.mit.edu	37	12	69651670	69651670	+	Frame_Shift_Del	DEL	C	C	-	rs61754516		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69651670delC	ENST00000435070.2	+	5	789	c.679delC	c.(679-681)cccfs	p.P229fs	CPSF6_ENST00000266679.8_Frame_Shift_Del_p.P229fs|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	229	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGAGGGCCACCCCCACCTTT	0.483																																						ENST00000435070.2																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(679-681)ccfs		cleavage and polyadenylation specific factor 6, 68kDa							61.0	65.0	63.0					12																	69651670		2203	4300	6503	SO:0001589	frameshift_variant	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69651670delC	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.679delC	12.37:g.69651670delC	ENSP00000391774:p.Pro229fs					CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Frame_Shift_Del_p.P229fs|CPSF6_ENST00000456847.3_Intron	p.P229fs	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		5	789	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		229			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Frame_Shift_Del	DEL	ENST00000435070.2	37	c.679delC	CCDS8988.1																																																																																				0.483	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		31	84						31	84	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124317860	124317860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124317860delA	ENST00000409039.3	+	26	4416	c.4391delA	c.(4390-4392)gaafs	p.E1464fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1464	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACAAATGGGAAAAAACGCTT	0.413																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4390-4392)gafs		dynein, axonemal, heavy chain 10							54.0	52.0	53.0					12																	124317860		1858	4102	5960	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124317860delA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4391delA	12.37:g.124317860delA	ENSP00000386770:p.Glu1464fs						p.E1464fs	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	26	4416	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1464			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.4391delA	CCDS9255.2																																																																																				0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			11	19						11	19	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-	rs372463803		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130184705delG	ENST00000422113.2	-	2	944	c.618delC	c.(616-618)cccfs	p.P206fs	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	206					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAACCACCGTGGGGGGGCTGA	0.711																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(616-618)ccfs		transmembrane protein 132D							20.0	23.0	22.0					12																	130184705		2200	4293	6493	SO:0001589	frameshift_variant	121256					integral to membrane		g.chr12:130184705delG	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.618delC	12.37:g.130184705delG	ENSP00000408581:p.Pro206fs						p.P206fs	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	944	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	206					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Frame_Shift_Del	DEL	ENST00000422113.2	37	c.618delC	CCDS9266.1																																																																																				0.711	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	54						13	54	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133266904	133266904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133266904delA	ENST00000317479.3	+	2	243	c.178delA	c.(178-180)aaafs	p.K61fs	POLE_ENST00000535270.1_5'Flank|POLE_ENST00000320574.5_5'Flank|PXMP2_ENST00000539093.1_5'UTR|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.K61fs|PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	61						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAAGAAGCGGAAAAAAGAAAA	0.512																																						ENST00000317479.3																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(178-180)aafs		peroxisomal membrane protein 2, 22kDa							111.0	110.0	110.0					12																	133266904		2203	4300	6503	SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133266904delA		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.178delA	12.37:g.133266904delA	ENSP00000321271:p.Lys61fs					PXMP2_ENST00000539093.1_5'UTR|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.K61fs|PXMP2_ENST00000545677.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'UTR	p.K61fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	2	243	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		61						Frame_Shift_Del	DEL	ENST00000317479.3	37	c.178delA	CCDS9279.1																																																																																				0.512	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		7	119						7	119	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:23911843delA	ENST00000382292.3	-	9	6445	c.6172delT	c.(6172-6174)tctfs	p.S2058fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.S1308fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.S2058fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2058					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACTTCAGAAAAAAACTGT	0.333																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189	GRCh37	CD056852	SACS	D		c.(6172-6174)ctfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							25.0	28.0	27.0					13																	23911843		2186	4294	6480	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911843delA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6172delT	13.37:g.23911843delA	ENSP00000371729:p.Ser2058fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.S2058fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.S1308fs	p.S2058fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6760	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2058					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.6172delT	CCDS9300.2																																																																																				0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	31						18	31	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49030367	49030368	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:49030367_49030368insA	ENST00000267163.4	+	19	1980_1981	c.1842_1843insA	c.(1843-1845)aaafs	p.K615fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	615	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)|p.G617fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATCTCCAAAGAAAAAAGGTTC	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(10)|Deletion - Frameshift(1)	p.0?(15)|p.?(10)|p.G617fs*6(1)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1840-1845)aaaaaafs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49030367_49030368insA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1848dupA	13.37:g.49030373_49030373dupA	ENSP00000267163:p.Lys615fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.KK614fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	1980_1981	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	614			Pocket; binds T and E1A.|Spacer.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.1842_1843insA	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			12	34						12	34	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:77844149delT	ENST00000544440.2	-	7	1141	c.1124delA	c.(1123-1125)aagfs	p.K375fs	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000407578.2_Frame_Shift_Del_p.K413fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1237-1239)agfs		MYC binding protein 2, E3 ubiquitin protein ligase							108.0	121.0	117.0					13																	77844149		2203	4295	6498	SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844149delT	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1124delA	13.37:g.77844149delT	ENSP00000444596:p.Lys375fs					MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs	p.K413fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1504	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	375						Frame_Shift_Del	DEL	ENST00000544440.2	37	c.1238delA																																																																																					0.289	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		10	163						10	163	---	---	---	---
UPF3A	65110	broad.mit.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aaafs	p.K266fs	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363																																						ENST00000375299.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(790-792)aafs		UPF3 regulator of nonsense transcripts homolog A (yeast)			,	20,35,4205		1,0,18,1,33,2077	38.0	39.0	39.0		,	-1.8	0.0	13		39	41,44,8143		3,0,35,0,44,4032	no	codingComplex,codingComplex	UPF3A	NM_080687.2,NM_023011.3	,	4,0,53,1,77,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0331,1.2911,1.1211	,	,	115057211	61,79,12348	2200	4295	6495	SO:0001589	frameshift_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115057211delA	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.790delA	13.37:g.115057211delA	ENSP00000364448:p.Lys266fs					UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs|UPF3A_ENST00000475218.2_3'UTR	p.K266fs	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	7	846	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	266					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Del	DEL	ENST00000375299.3	37	c.790delA	CCDS9543.1																																																																																				0.363	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			7	10						7	10	---	---	---	---
RP11-536C10.4	0	broad.mit.edu	37	14	19339542	19339543	+	RNA	DEL	AA	AA	-	rs374943822		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:19339542_19339543delAA	ENST00000552261.1	-	0	52																											AAGCACTCTCAAAAAAAAACAG	0.342																																						ENST00000552261.1																			0																																																			0							g.chr14:19339542_19339543delAA																													14.37:g.19339548_19339549delAA														0	52	-									RNA	DEL	ENST00000552261.1	37																																																																																						0.342	RP11-536C10.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000408397.1			5	3						5	3	---	---	---	---
CPNE6	9362	broad.mit.edu	37	14	24542775	24542776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24542775_24542776insT	ENST00000397016.2	+	4	547_548	c.236_237insT	c.(235-240)tattttfs	p.YF79fs	CPNE6_ENST00000537691.1_Frame_Shift_Ins_p.YF134fs|CPNE6_ENST00000216775.2_Frame_Shift_Ins_p.YF79fs|CPNE6_ENST00000560092.1_3'UTR	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	79	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCTTGAGTATTTTTTTGAGG	0.594																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(235-237)tttfs		copine VI (neuronal)																																				SO:0001589	frameshift_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24542775_24542776insT	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.243dupT	14.37:g.24542782_24542782dupT	ENSP00000380211:p.Tyr79fs					CPNE6_ENST00000216775.2_Frame_Shift_Ins_p.F79fs|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Frame_Shift_Ins_p.F134fs	p.F79fs			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	4	547_548	+			79			C2 1.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Frame_Shift_Ins	INS	ENST00000397016.2	37	c.236_237insT	CCDS9607.1																																																																																				0.594	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			35	92						35	92	---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24619809delG	ENST00000324103.6	+	8	1520	c.1200delG	c.(1198-1200)cagfs	p.Q400fs	RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs|RP11-468E2.4_ENST00000558468.1_5'Flank|RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(1198-1200)cafs		ring finger protein 31							165.0	169.0	167.0					14																	24619809		1947	4146	6093	SO:0001589	frameshift_variant	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24619809delG	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.1200delG	14.37:g.24619809delG	ENSP00000315112:p.Gln400fs					RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs|RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs	p.Q400fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	8	1520	+			400			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Frame_Shift_Del	DEL	ENST00000324103.6	37	c.1200delG	CCDS41931.1																																																																																				0.517	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		64	162						64	162	---	---	---	---
STXBP6	29091	broad.mit.edu	37	14	25443930	25443931	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:25443930_25443931delTT	ENST00000323944.5	-	2	545_546	c.94_95delAA	c.(94-96)aagfs	p.K32fs	STXBP6_ENST00000396700.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000358326.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000548724.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000550887.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000546511.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000419632.2_Frame_Shift_Del_p.K32fs			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	32					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GAAAGGAATCTTTTTCTTTGTC	0.381																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(94-96)gfs		syntaxin binding protein 6 (amisyn)																																				SO:0001589	frameshift_variant	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25443930_25443931delTT	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.94_95delAA	14.37:g.25443932_25443933delTT	ENSP00000324302:p.Lys32fs					STXBP6_ENST00000396700.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000550887.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000419632.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000358326.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000546511.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000548724.1_Frame_Shift_Del_p.K32fs	p.K32fs			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	2	545_546	-			32					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Frame_Shift_Del	DEL	ENST00000323944.5	37	c.94_95delAA	CCDS9634.1																																																																																				0.381	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			3	3						3	3	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:69256455delC	ENST00000439696.2	-	2	1113	c.812delG	c.(811-813)ggtfs	p.G272fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	272					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGAGCCACCCCCGGGCAG	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(811-813)gtfs		ZFP36 ring finger protein-like 1							54.0	65.0	61.0					14																	69256455		2198	4298	6496	SO:0001589	frameshift_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256455delC	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.812delG	14.37:g.69256455delC	ENSP00000388402:p.Gly272fs		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1113	-			272					Q13851	Frame_Shift_Del	DEL	ENST00000439696.2	37	c.812delG	CCDS9791.1																																																																																				0.642	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			29	245						29	245	---	---	---	---
EIF2B2	8892	broad.mit.edu	37	14	75474467	75474469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75474467_75474469delGAA	ENST00000266126.5	+	7	954_956	c.874_876delGAA	c.(874-876)gaadel	p.E293del	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	293					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTGGCTCCTGAAGAAGTCCTGC	0.414																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(874-876)del		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa																																				SO:0001651	inframe_deletion	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75474467_75474469delGAA		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.874_876delGAA	14.37:g.75474470_75474472delGAA	ENSP00000266126:p.Glu293del					RP11-950C14.3_ENST00000554430.1_RNA	p.E293del	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	7	954_956	+			293					O43201	In_Frame_Del	DEL	ENST00000266126.5	37	c.874_876delGAA	CCDS9836.1																																																																																				0.414	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		14	51						14	51	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)aagfs	p.K865fs	CLMN_ENST00000557215.1_5'Flank|CLMN_ENST00000556441.1_5'Flank	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408																																						ENST00000298912.4																			1	Deletion - Frameshift(1)	p.K865fs*10(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2593-2595)agfs		calmin (calponin-like, transmembrane)							152.0	132.0	139.0					14																	95662949		2203	4300	6503	SO:0001589	frameshift_variant	79789					integral to membrane	actin binding	g.chr14:95662949delT	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2594delA	14.37:g.95662949delT	ENSP00000298912:p.Lys865fs						p.K865fs	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	10	2707	-			865					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Frame_Shift_Del	DEL	ENST00000298912.4	37	c.2594delA	CCDS9933.1																																																																																				0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			17	30						17	30	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100803477	100803478	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100803477_100803478insC	ENST00000355338.2	-	10	1793_1794	c.1175_1176insG	c.(1174-1176)ggcfs	p.G392fs	WARS_ENST00000557135.1_Frame_Shift_Ins_p.G392fs|RP11-638I2.9_ENST00000556212.1_RNA|WARS_ENST00000358655.4_Frame_Shift_Ins_p.G351fs|WARS_ENST00000344102.5_Frame_Shift_Ins_p.G351fs|WARS_ENST00000392882.2_Frame_Shift_Ins_p.G392fs|WARS_ENST00000556645.1_Frame_Shift_Ins_p.G351fs|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	392					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.G392V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CATCACAGTTGCCCCCAAACTG	0.559																																						ENST00000355338.2																			1	Substitution - Missense(1)	p.G392V(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1174-1176)gaafs		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)																																			SO:0001589	frameshift_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100803477_100803478insC	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1176dupG	14.37:g.100803482_100803482dupC	ENSP00000347495:p.Gly392fs					WARS_ENST00000557135.1_Frame_Shift_Ins_p.E392fs|WARS_ENST00000392882.2_Frame_Shift_Ins_p.E392fs|WARS_ENST00000344102.5_Frame_Shift_Ins_p.E351fs|WARS_ENST00000556645.1_Frame_Shift_Ins_p.E351fs|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Frame_Shift_Ins_p.E351fs	p.E392fs	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			10	1793_1794	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	392					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Frame_Shift_Ins	INS	ENST00000355338.2	37	c.1175_1176insG	CCDS9960.1																																																																																				0.559	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		7	374						7	374	---	---	---	---
IGHG1	3500	broad.mit.edu	37	14	106207939	106207941	+	RNA	DEL	GAA	GAA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:106207939_106207941delGAA	ENST00000390548.2	-	0	861_863							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TGCTGTAGAGGAAGAAGGAGCCG	0.586																																						ENST00000390548.2																			0																																																			0							g.chr14:106207939_106207941delGAA	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207942_106207944delGAA														0	861_863	-									RNA	DEL	ENST00000390548.2	37																																																																																						0.586	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		9	229						9	229	---	---	---	---
LOC101927079	101927079	broad.mit.edu	37	15	22332413	22332413	+	RNA	DEL	A	A	-	rs373011460		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:22332413delA	ENST00000558896.1	+	0	220																											TGGCTTGATGAAAAAAAACAA	0.323																																						ENST00000558896.1																			0																																																			0							g.chr15:22332413delA																													15.37:g.22332413delA														0	220	+									RNA	DEL	ENST00000558896.1	37																																																																																						0.323	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			10	71						10	71	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331164	+	RNA	DEL	AA	AA	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:23331163_23331164delAA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAAA	0.366																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163_23331164delAA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331173_23331174delAA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.366	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	4						5	4	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28927410	28927411	+	RNA	INS	-	-	AGGGA	rs201334001	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28927410_28927411insAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GGTTTAAAAATagggaagggaa	0.46																																						ENST00000528584.1																			0																																																			0							g.chr15:28927410_28927411insAGGGA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28927416_28927420dupAGGGA								NR_036443.1						0	1811	+									RNA	INS	ENST00000528584.1	37																																																																																						0.460	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	6						4	6	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34080521	34080523	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34080521_34080523delAGG	ENST00000389232.4	+	67	9762_9764	c.9692_9694delAGG	c.(9691-9696)caggag>cag	p.E3234del	RYR3_ENST00000415757.3_In_Frame_Del_p.E3234del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3234					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)		AAGACGGTGCAGGAGGAGGAGCA	0.557																																						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.(9691-9696)cag>c		ryanodine receptor 3																																				SO:0001651	inframe_deletion	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080521_34080523delAGG		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.9692_9694delAGG	15.37:g.34080527_34080529delAGG	ENSP00000373884:p.Glu3234del					RYR3_ENST00000415757.3_In_Frame_Del_p.QE3231del	p.QE3231del	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)	67	9762_9764	+		all_lung(180;7.18e-09)	3231					O15175|Q15412	In_Frame_Del	DEL	ENST00000389232.4	37	c.9692_9694delAGG	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	185						9	185	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40330494	40330496	+	In_Frame_Del	DEL	TCT	TCT	-	rs201924463		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40330494_40330496delTCT	ENST00000267884.6	-	3	268_270	c.197_199delAGA	c.(196-201)aagatc>atc	p.K66del	SRP14_ENST00000558527.1_5'UTR|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.K66del|SRP14_ENST00000560773.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	66					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ACAGTGCTGATCTTCTTCTTCCC	0.453																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(196-201)atc>a		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40330494_40330496delTCT		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.197_199delAGA	15.37:g.40330500_40330502delTCT	ENSP00000267884:p.Lys66del					SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.KI66del	p.KI66del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	3	268_270	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	66					B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.197_199delAGA	CCDS42017.1																																																																																				0.453	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		15	61						15	61	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43714237	43714237	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43714237delC	ENST00000263801.3	-	19	4153	c.3901delG	c.(3901-3903)gatfs	p.D1301fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.D1306fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1301					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCTGATATCCCCCAGGTCA	0.527								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3901-3903)atfs	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							107.0	107.0	107.0					15																	43714237		2201	4298	6499	SO:0001589	frameshift_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43714237delC	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3901delG	15.37:g.43714237delC	ENSP00000263801:p.Asp1301fs					TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.D1306fs	p.D1301fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	19	4153	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1301					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	c.3901delG	CCDS10096.1																																																																																				0.527	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	127						7	127	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43733757delT	ENST00000263801.3	-	15	3302	c.3050delA	c.(3049-3051)aatfs	p.N1017fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.N1022fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1017					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTAGATCCATTTTTTCTTTC	0.393								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(3049-3051)atfs	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							126.0	125.0	125.0					15																	43733757		2201	4298	6499	SO:0001589	frameshift_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43733757delT	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3050delA	15.37:g.43733757delT	ENSP00000263801:p.Asn1017fs					TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.N1022fs	p.N1017fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	15	3302	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1017					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	c.3050delA	CCDS10096.1																																																																																				0.393	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			33	93						33	93	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:49036443delT	ENST00000380950.2	-	24	4016	c.3829delA	c.(3829-3831)attfs	p.I1277fs	CEP152_ENST00000399334.3_Frame_Shift_Del_p.I1221fs|CEP152_ENST00000325747.5_Frame_Shift_Del_p.I1184fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1277					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTACATTTAATTTTTTTTACA	0.393																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(3829-3831)ttfs		centrosomal protein 152kDa							42.0	40.0	40.0					15																	49036443		1796	4053	5849	SO:0001589	frameshift_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49036443delT	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.3829delA	15.37:g.49036443delT	ENSP00000370337:p.Ile1277fs					CEP152_ENST00000325747.5_Frame_Shift_Del_p.I1184fs|CEP152_ENST00000399334.3_Frame_Shift_Del_p.I1221fs	p.I1277fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	24	4016	-		all_lung(180;0.0428)	1221					E7ER66|Q17RV1|Q6NTA0	Frame_Shift_Del	DEL	ENST00000380950.2	37	c.3829delA	CCDS58361.1																																																																																				0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		10	44						10	44	---	---	---	---
C2CD4A	145741	broad.mit.edu	37	15	62360188	62360188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62360188delC	ENST00000355522.5	+	2	517	c.376delC	c.(376-378)cccfs	p.P126fs		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	126						nucleus (GO:0005634)											cgggggcccgcccgcgccccg	0.811																																						ENST00000355522.5																			0											c.(376-378)ccfs		C2 calcium-dependent domain containing 4A							1.0	1.0	1.0					15																	62360188		648	1620	2268	SO:0001589	frameshift_variant	145741					nucleus		g.chr15:62360188delC	AF504646	CCDS32258.1	15q22.2	2009-09-28	2009-09-28	2009-09-28		ENSG00000198535			33627	protein-coding gene	gene with protein product	"""nuclear localized factor 1"""	610343	"""family with sequence similarity 148, member A"""	FAM148A			Standard	NM_207322		Approved	NLF1	uc002ahf.4	Q8NCU7		ENST00000355522.5:c.376delC	15.37:g.62360188delC	ENSP00000347712:p.Pro126fs						p.P126fs	NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN			2	517	+			126						Frame_Shift_Del	DEL	ENST00000355522.5	37	c.376delC	CCDS32258.1																																																																																				0.811	C2CD4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416008.2	NM_207322		2	4						2	4	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64966285	64966285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64966285delG	ENST00000326648.3	+	4	1360	c.1232delG	c.(1231-1233)cggfs	p.R411fs	ZNF609_ENST00000559364.1_3'UTR|RNU6-549P_ENST00000384433.1_RNA	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	411						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCCGTCGGGGCAGCCAG	0.547																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1231-1233)cgfs		zinc finger protein 609							88.0	87.0	87.0					15																	64966285		2203	4299	6502	SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64966285delG	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1232delG	15.37:g.64966285delG	ENSP00000316527:p.Arg411fs					ZNF609_ENST00000559364.1_3'UTR	p.R411fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	1360	+			411					Q0D2I2	Frame_Shift_Del	DEL	ENST00000326648.3	37	c.1232delG	CCDS32270.1																																																																																				0.547	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		35	149						35	149	---	---	---	---
RP11-1006G14.2	0	broad.mit.edu	37	15	72901065	72901065	+	lincRNA	DEL	C	C	-	rs142793856	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72901065delC	ENST00000565305.1	-	0	201																											ATCTCTGCCTCCCCCTGGTAA	0.532																																						ENST00000565305.1																			0																																																			0							g.chr15:72901065delC																													15.37:g.72901065delC														0	201	-									RNA	DEL	ENST00000565305.1	37																																																																																						0.532	RP11-1006G14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422130.1			12	34						12	34	---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82523237	82523238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:82523237_82523238insC	ENST00000268206.7	-	8	974_975	c.806_807insG	c.(805-807)ggafs	p.G269fs	EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Frame_Shift_Ins_p.G218fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	269	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAGTAATCTCCCCACAAGGT	0.361																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(805-807)ggafs		elongation factor Tu GTP binding domain containing 1																																				SO:0001589	frameshift_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82523237_82523238insC	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.807dupG	15.37:g.82523241_82523241dupC	ENSP00000268206:p.Gly269fs					EFTUD1_ENST00000359445.3_Frame_Shift_Ins_p.G218fs|EFTUD1_ENST00000561331.1_5'UTR	p.G269fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			8	974_975	-			269					A6NKY5|B7Z6I0|Q9H8Z6	Frame_Shift_Ins	INS	ENST00000268206.7	37	c.806_807insG	CCDS42071.1																																																																																				0.361	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		35	62						35	62	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90190209delC	ENST00000394412.3	-	7	1716	c.1640delG	c.(1639-1641)ggcfs	p.G547fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1639-1641)gcfs		kinesin family member 7							16.0	20.0	19.0					15																	90190209		2195	4294	6489	SO:0001589	frameshift_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90190209delC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1640delG	15.37:g.90190209delC	ENSP00000377934:p.Gly547fs		OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273		p.G547fs	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1716	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		547					Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Del	DEL	ENST00000394412.3	37	c.1640delG	CCDS32325.2																																																																																				0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		12	32						12	32	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102306788	102306790	+	RNA	DEL	GTA	GTA	-	rs372910444		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:102306788_102306790delGTA	ENST00000561463.1	+	0	13180									DNM1 pseudogene 47																		TTAGTCTGTTGTAGTGGTGAGCT	0.507																																						ENST00000561463.1																			0																																																			0							g.chr15:102306788_102306790delGTA	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102306788_102306790delGTA														0	13180	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.507	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
MAPK8IP3	23162	broad.mit.edu	37	16	1817703	1817703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:1817703delG	ENST00000250894.4	+	27	3530	c.3373delG	c.(3373-3375)gtgfs	p.V1125fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.V1119fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1125					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTACAGGACGTGGACATTGA	0.647																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(3373-3375)tgfs		mitogen-activated protein kinase 8 interacting protein 3							31.0	35.0	34.0					16																	1817703		2143	4275	6418	SO:0001589	frameshift_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817703delG	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3373delG	16.37:g.1817703delG	ENSP00000250894:p.Val1125fs					MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.V1119fs	p.V1125fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			27	3530	+			1125					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Frame_Shift_Del	DEL	ENST00000250894.4	37	c.3373delG	CCDS10442.2																																																																																				0.647	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		13	44						13	44	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819185	2819187	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2819185_2819187delTCC	ENST00000301740.8	+	12	8470_8472	c.7921_7923delTCC	c.(7921-7923)tccdel	p.S2648del	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcatcttcctcctcctcgt	0.591																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7921-7923)del		serine/arginine repetitive matrix 2																																				SO:0001651	inframe_deletion	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819185_2819187delTCC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7921_7923delTCC	16.37:g.2819191_2819193delTCC	ENSP00000301740:p.Ser2648del					SRRM2_ENST00000574593.1_3'UTR	p.S2648del	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8470_8472	+			2648			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	ENST00000301740.8	37	c.7921_7923delTCC	CCDS32373.1																																																																																				0.591	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			27	90						27	90	---	---	---	---
CLDN9	9080	broad.mit.edu	37	16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-	rs374732646		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3063895delG	ENST00000445369.2	+	1	1439	c.532delG	c.(532-534)gggfs	p.G179fs		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	179					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TATGCTGGGCGGGGGGCTCCT	0.721																																						ENST00000445369.2																			0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(532-534)ggfs		claudin 9							16.0	21.0	19.0					16																	3063895		2174	4262	6436	SO:0001589	frameshift_variant	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063895delG	AJ130941	CCDS10487.1	16p13.3	2008-08-01			ENSG00000213937	ENSG00000213937		"""Claudins"""	2051	protein-coding gene	gene with protein product		615799				9441748, 18234789	Standard	NM_020982		Approved		uc010uwo.1	O95484	OTTHUMG00000129000	ENST00000445369.2:c.532delG	16.37:g.3063895delG	ENSP00000398017:p.Gly179fs						p.G179fs	NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN			1	1439	+			179						Frame_Shift_Del	DEL	ENST00000445369.2	37	c.532delG	CCDS10487.1																																																																																				0.721	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		29	74						29	74	---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24372743	24372744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24372743_24372744insA	ENST00000005284.3	+	4	1709_1710	c.507_508insA	c.(508-510)aaafs	p.K170fs		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	170					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGCGTGACTCCAAAAAAAGTTA	0.441																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(505-510)tcaaaafs		calcium channel, voltage-dependent, gamma subunit 3																																				SO:0001589	frameshift_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372743_24372744insA	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.514dupA	16.37:g.24372750_24372750dupA	ENSP00000005284:p.Lys170fs						p.SK169fs	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1709_1710	+			169						Frame_Shift_Ins	INS	ENST00000005284.3	37	c.507_508insA	CCDS10620.1																																																																																				0.441	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		10	196						10	196	---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30409310delC	ENST00000320159.2	+	2	1115	c.739delC	c.(739-741)cccfs	p.P248fs	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGAGCAGCCCCCCCGACC	0.637																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(739-741)ccfs		zinc finger protein 48							37.0	45.0	42.0					16																	30409310		2197	4300	6497	SO:0001589	frameshift_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409310delC	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.739delC	16.37:g.30409310delC	ENSP00000324056:p.Pro248fs						p.P248fs	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1115	+			248					Q15920|Q4G0R3|Q69YP3|Q96IL9	Frame_Shift_Del	DEL	ENST00000320159.2	37	c.739delC	CCDS10679.1																																																																																				0.637	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		29	57						29	57	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61935343	61935344	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:61935343_61935344insT	ENST00000577390.1	-	3	1240_1241	c.286_287insA	c.(286-288)atcfs	p.I96fs	CDH8_ENST00000577730.1_Frame_Shift_Ins_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.I96fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATATACTTGATTTTTTTGCTC	0.376																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(286-288)caafs		cadherin 8, type 2																																				SO:0001589	frameshift_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935343_61935344insT	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.287dupA	16.37:g.61935350_61935350dupT	ENSP00000462701:p.Ile96fs					CDH8_ENST00000577730.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.Q96fs	p.Q96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1240_1241	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	96			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Ins	INS	ENST00000577390.1	37	c.286_287insA	CCDS10802.1																																																																																				0.376	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		17	65						17	65	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68856088	68856088	+	Frame_Shift_Del	DEL	C	C	-	rs33969373	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:68856088delC	ENST00000261769.5	+	12	2087	c.1896delC	c.(1894-1896)cacfs	p.H632fs	CDH1_ENST00000422392.2_Frame_Shift_Del_p.H571fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	632	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACTAACACACGGGGCGAGTG	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(1894-1896)cafs		cadherin 1, type 1, E-cadherin (epithelial)							100.0	84.0	89.0					16																	68856088		2198	4300	6498	SO:0001589	frameshift_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68856088delC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1896delC	16.37:g.68856088delC	ENSP00000261769:p.His632fs					CDH1_ENST00000422392.2_Frame_Shift_Del_p.H571fs|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	p.H632fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	2087	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	632			Cadherin 5.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	ENST00000261769.5	37	c.1896delC	CCDS10869.1																																																																																				0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		7	82						7	82	---	---	---	---
TLDC1	57707	broad.mit.edu	37	16	84514303	84514303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84514303delC	ENST00000343629.6	-	7	1271	c.1089delG	c.(1087-1089)gggfs	p.G363fs	TLDC1_ENST00000535580.1_Frame_Shift_Del_p.G336fs	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	363	TLD.					lysosomal membrane (GO:0005765)											AATTGTGCTGCCCCCCCATAC	0.547																																						ENST00000343629.6																			0											c.(1087-1089)ggfs		TBC/LysM-associated domain containing 1							69.0	63.0	65.0					16																	84514303		2200	4300	6500	SO:0001589	frameshift_variant	57707							g.chr16:84514303delC	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.1089delG	16.37:g.84514303delC	ENSP00000343635:p.Gly363fs					TLDC1_ENST00000535580.1_Frame_Shift_Del_p.G336fs	p.G363fs	NM_020947.3	NP_065998.3					7	1271	-								Q8IZ64|Q9HCG3|Q9NTE8	Frame_Shift_Del	DEL	ENST00000343629.6	37	c.1089delG	CCDS32498.1																																																																																				0.547	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		22	27						22	27	---	---	---	---
ZFPM1	161882	broad.mit.edu	37	16	88555465	88555465	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88555465delC	ENST00000319555.3	+	3	494	c.172delC	c.(172-174)cccfs	p.P59fs	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	59					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACCGCTGCCGCCCCCCACATC	0.652																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(172-174)ccfs		zinc finger protein, FOG family member 1							54.0	52.0	53.0					16																	88555465		2198	4299	6497	SO:0001589	frameshift_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88555465delC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.172delC	16.37:g.88555465delC	ENSP00000326630:p.Pro59fs					ZFPM1_ENST00000569086.1_3'UTR	p.P59fs	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	3	494	+			59						Frame_Shift_Del	DEL	ENST00000319555.3	37	c.172delC	CCDS32502.1																																																																																				0.652	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			15	41						15	41	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1637102	1637102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1637102delG	ENST00000409644.1	+	7	4771	c.4771delG	c.(4771-4773)gggfs	p.G1592fs	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Frame_Shift_Del_p.G223fs|WDR81_ENST00000309182.5_Frame_Shift_Del_p.G541fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.G231fs|WDR81_ENST00000437219.2_Frame_Shift_Del_p.G389fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.G365fs	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1592	Poly-Gly.				negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTGGGTGGCGGGGGCCTGGG	0.682																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4771-4773)ggfs		WD repeat domain 81							25.0	30.0	29.0					17																	1637102		2202	4292	6494	SO:0001589	frameshift_variant	124997							g.chr17:1637102delG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4771delG	17.37:g.1637102delG	ENSP00000386609:p.Gly1592fs					WDR81_ENST00000437219.2_Frame_Shift_Del_p.G389fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.G231fs|WDR81_ENST00000545662.1_Frame_Shift_Del_p.G223fs|WDR81_ENST00000419248.1_Frame_Shift_Del_p.G365fs|WDR81_ENST00000309182.5_Frame_Shift_Del_p.G541fs|RP11-961A15.1_ENST00000576540.1_RNA	p.G1592fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4771	+			365					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Del	DEL	ENST00000409644.1	37	c.4771delG	CCDS54062.1																																																																																				0.682	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		29	83						29	83	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18150040	18150042	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18150040_18150042delCTC	ENST00000327031.4	-	23	3142_3144	c.2917_2919delGAG	c.(2917-2919)gagdel	p.E973del	FLII_ENST00000379450.4_In_Frame_Del_p.E887del|FLII_ENST00000545457.2_In_Frame_Del_p.E918del|FLII_ENST00000579294.1_In_Frame_Del_p.E962del|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	973	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ctggctgcttctcctctgcctca	0.571																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2917-2919)del		flightless I homolog (Drosophila)																																				SO:0001651	inframe_deletion	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150040_18150042delCTC	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2917_2919delGAG	17.37:g.18150043_18150045delCTC	ENSP00000324573:p.Glu973del					FLII_ENST00000579294.1_In_Frame_Del_p.E962del|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_In_Frame_Del_p.E887del|FLII_ENST00000545457.2_In_Frame_Del_p.E918del	p.E973del	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			23	3142_3144	-	all_neural(463;0.228)		973			Glu-rich.		B4DIL0|F5H407|J3QLG3	In_Frame_Del	DEL	ENST00000327031.4	37	c.2917_2919delGAG	CCDS11192.1																																																																																				0.571	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		8	17						8	17	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-	rs376316249		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27959375delG	ENST00000269033.3	-	15	2907	c.2756delC	c.(2755-2757)ccafs	p.P919fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAATGTTCTGGGGGGGCTTC	0.483																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2755-2757)cafs		slingshot protein phosphatase 2							181.0	194.0	190.0					17																	27959375		2203	4300	6503	SO:0001589	frameshift_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959375delG	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2756delC	17.37:g.27959375delG	ENSP00000269033:p.Pro919fs					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs	p.P919fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			15	2907	-			919					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Frame_Shift_Del	DEL	ENST00000269033.3	37	c.2756delC	CCDS11253.1																																																																																				0.483	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		14	391						14	391	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29204438	29204438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:29204438delA	ENST00000321990.4	+	16	4167	c.3789delA	c.(3787-3789)atafs	p.I1263fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1263					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGCAGGAATAAAAAATTCTT	0.299																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3787-3789)atfs		ATPase family, AAA domain containing 5							29.0	32.0	31.0					17																	29204438		2197	4296	6493	SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29204438delA		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3789delA	17.37:g.29204438delA	ENSP00000313171:p.Ile1263fs						p.I1263fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			16	4167	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1263					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.3789delA	CCDS11260.1																																																																																				0.299	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		14	34						14	34	---	---	---	---
RAMP2	10266	broad.mit.edu	37	17	40914372	40914372	+	Splice_Site	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40914372delG	ENST00000253796.5	+	3	231		c.e3-1		RAMP2_ENST00000589683.1_Splice_Site|RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000587142.1_Frame_Shift_Del_p.G61fs|RAMP2-AS1_ENST00000592670.1_lincRNA	NM_005854.2	NP_005845.2	O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2						adherens junction assembly (GO:0034333)|angiogenesis (GO:0001525)|basement membrane assembly (GO:0070831)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to hormone stimulus (GO:0032870)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|heart development (GO:0007507)|intracellular protein transport (GO:0006886)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of vascular permeability (GO:0043116)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of gene expression (GO:0010628)|positive regulation of vasculogenesis (GO:2001214)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|sprouting angiogenesis (GO:0002040)|tight junction assembly (GO:0070830)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TGTACCTACAGGGGGGACGGT	0.507																																						ENST00000587142.1																			0				endometrium(2)|lung(1)|stomach(1)	4						c.(178-180)ggfs		receptor (G protein-coupled) activity modifying protein 2	Pramlintide(DB01278)						139.0	135.0	137.0					17																	40914372		2203	4300	6503	SO:0001630	splice_region_variant	10266				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity	g.chr17:40914372delG	AJ001015	CCDS11437.1	17q12-q21.1	2012-08-17	2006-11-21		ENSG00000131477	ENSG00000131477		"""Receptor (G protein-coupled) activity modifying proteins"""	9844	protein-coding gene	gene with protein product		605154	"""receptor activity modifying protein 2"", ""receptor (calcitonin) activity modifying protein 2"""				Standard	NM_005854		Approved		uc002ibg.3	O60895		ENST00000253796.5:c.164-1G>-	17.37:g.40914372delG						RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_Splice_Site|RAMP2_ENST00000253796.5_Splice_Site	p.G61fs			O60895	RAMP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0741)	3	182	+		Breast(137;0.000143)	56					A7L9S6|K7EMD3|Q8N1F2	Frame_Shift_Del	DEL	ENST00000253796.5	37	c.178delG	CCDS11437.1																																																																																				0.507	RAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452380.1	NM_005854	Intron	32	152						32	152	---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42170121	42170121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42170121delG	ENST00000393622.2	-	7	1026	c.695delC	c.(694-696)cctfs	p.P232fs	HDAC5_ENST00000225983.6_Frame_Shift_Del_p.P233fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P232fs	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	232					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(697-699)ctfs		histone deacetylase 5							20.0	25.0	24.0					17																	42170121		2146	4230	6376	SO:0001589	frameshift_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42170121delG	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.695delC	17.37:g.42170121delG	ENSP00000377244:p.Pro232fs					HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000393622.2_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P232fs	p.P233fs			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	7	1021	-		Breast(137;0.00637)|Prostate(33;0.0313)	232					C9JFV9|O60340|O60528|Q96DY4	Frame_Shift_Del	DEL	ENST00000393622.2	37	c.698delC	CCDS45696.1																																																																																				0.647	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		15	46						15	46	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48668820	48668820	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48668820delG	ENST00000359106.5	+	11	2478	c.2478delG	c.(2476-2478)cagfs	p.Q826fs	CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000352832.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.Q826fs	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	826					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCCAGCAGGGGGGCGGCC	0.682																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(2476-2478)cafs		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						20.0	26.0	24.0					17																	48668820		2163	4235	6398	SO:0001589	frameshift_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48668820delG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2478delG	17.37:g.48668820delG	ENSP00000352011:p.Gln826fs					CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.Q826fs	p.Q826fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		11	2850	+	Breast(11;6.7e-17)		826					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Frame_Shift_Del	DEL	ENST00000359106.5	37	c.2478delG	CCDS45730.1																																																																																				0.682	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		6	9						6	9	---	---	---	---
TMEM100	55273	broad.mit.edu	37	17	53798255	53798255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:53798255delG	ENST00000575734.1	-	4	985	c.177delC	c.(175-177)cccfs	p.P59fs	TMEM100_ENST00000424486.2_Frame_Shift_Del_p.P59fs|TMEM100_ENST00000570586.1_5'Flank	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	59					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CCACAGCAAAGGGGATGATGC	0.537																																						ENST00000575734.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						c.(175-177)ccfs		transmembrane protein 100							125.0	119.0	121.0					17																	53798255		2203	4300	6503	SO:0001589	frameshift_variant	55273					integral to membrane		g.chr17:53798255delG	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.177delC	17.37:g.53798255delG	ENSP00000465638:p.Pro59fs					TMEM100_ENST00000424486.2_Frame_Shift_Del_p.P59fs	p.P59fs	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN			4	985	-			59					D3DTY7|I3L214|Q96FZ0	Frame_Shift_Del	DEL	ENST00000575734.1	37	c.177delC	CCDS11587.1																																																																																				0.537	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2	NM_018286		32	117						32	117	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56386548	56386548	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56386548delG	ENST00000343736.4	-	22	4248	c.4085delC	c.(4084-4086)cctfs	p.P1362fs	BZRAP1_ENST00000355701.3_Frame_Shift_Del_p.P1362fs|BZRAP1_ENST00000268893.6_Frame_Shift_Del_p.P1302fs			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1362						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCAATGCAGGTTCAGGCGG	0.627																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4084-4086)ctfs		benzodiazapine receptor (peripheral) associated protein 1							73.0	76.0	75.0					17																	56386548		2203	4300	6503	SO:0001589	frameshift_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56386548delG	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4085delC	17.37:g.56386548delG	ENSP00000345824:p.Pro1362fs					BZRAP1_ENST00000343736.4_Frame_Shift_Del_p.P1362fs|BZRAP1_ENST00000268893.6_Frame_Shift_Del_p.P1302fs	p.P1362fs	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			22	4955	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1362					O75111|Q8N5W3	Frame_Shift_Del	DEL	ENST00000343736.4	37	c.4085delC	CCDS11605.1																																																																																				0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		32	70						32	70	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gtfs		ring finger protein 43							64.0	77.0	72.0					17																	56435161		2203	4299	6502	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435161delC		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs	p.G659fs			Q68DV7	RNF43_HUMAN			8	3931	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.1976delG	CCDS11607.1																																																																																				0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		65	105						65	105	---	---	---	---
PITPNC1	26207	broad.mit.edu	37	17	65688788	65688788	+	Frame_Shift_Del	DEL	C	C	-	rs376148411		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:65688788delC	ENST00000581322.1	+	9	783	c.783delC	c.(781-783)atcfs	p.I261fs	PITPNC1_ENST00000335257.6_Frame_Shift_Del_p.I261fs|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	261					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TCTCCAGCATCCCCCTGCTGC	0.532																																						ENST00000335257.6																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(781-783)atfs		phosphatidylinositol transfer protein, cytoplasmic 1							131.0	139.0	136.0					17																	65688788		2004	4154	6158	SO:0001589	frameshift_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688788delC	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.783delC	17.37:g.65688788delC	ENSP00000464006:p.Ile261fs					PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Frame_Shift_Del_p.I261fs	p.I261fs			Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1130	+	all_cancers(12;3.03e-10)		261					A8K473|J3QR20|Q96I07	Frame_Shift_Del	DEL	ENST00000581322.1	37	c.783delC	CCDS58588.1																																																																																				0.532	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		49	136						49	136	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66131778	66131778	+	RNA	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:66131778delC	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		TCCGCCCAGACCCCCCTGCCC	0.692																																						ENST00000590019.1																			0																																																			0							g.chr17:66131778delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66131778delC														0	298	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.692	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			13	24						13	24	---	---	---	---
NAT9	26151	broad.mit.edu	37	17	72767902	72767903	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72767902_72767903delTT	ENST00000357814.3	-	7	657_658	c.584_585delAA	c.(583-585)gaafs	p.E196fs	NAT9_ENST00000581136.1_Frame_Shift_Del_p.E191fs|NAT9_ENST00000580632.1_Frame_Shift_Del_p.E196fs|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000582870.1_Frame_Shift_Del_p.E200fs|NAT9_ENST00000580301.1_Frame_Shift_Del_p.E195fs|NAT9_ENST00000578822.1_Frame_Shift_Del_p.E201fs|NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000583757.1_3'UTR	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	196						protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGGCTTCTCTTCCACGTGGCT	0.574																																						ENST00000357814.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						c.(583-585)gfs		N-acetyltransferase 9 (GCN5-related, putative)																																				SO:0001589	frameshift_variant	26151					protein complex	N-acetyltransferase activity	g.chr17:72767902_72767903delTT	AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"""N-acetyltransferase 9"""			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.584_585delAA	17.37:g.72767902_72767903delTT	ENSP00000350467:p.Glu196fs					NAT9_ENST00000581136.1_Frame_Shift_Del_p.E191fs|NAT9_ENST00000580632.1_Frame_Shift_Del_p.E196fs|NAT9_ENST00000580301.1_Frame_Shift_Del_p.E195fs|NAT9_ENST00000582870.1_Frame_Shift_Del_p.E200fs|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000578822.1_Frame_Shift_Del_p.E201fs|NAT9_ENST00000583757.1_3'UTR	p.E196fs	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN			7	657_658	-			196					B2R7F0|Q9BTD0|Q9Y3T3	Frame_Shift_Del	DEL	ENST00000357814.3	37	c.584_585delAA	CCDS11706.1																																																																																				0.574	NAT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443700.1	NM_015654		19	36						19	36	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808481	77808483	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808481_77808483delCTT	ENST00000269397.4	-	5	1135_1137	c.958_960delAAG	c.(958-960)aagdel	p.K320del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	320	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGCCTCCACCTTCTTCTCCTCT	0.69											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(958-960)del		chromobox homolog 4																																				SO:0001651	inframe_deletion	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808481_77808483delCTT	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.958_960delAAG	17.37:g.77808484_77808486delCTT	ENSP00000269397:p.Lys320del		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.K320del	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1135_1137	-			320			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	ENST00000269397.4	37	c.958_960delAAG	CCDS32758.1																																																																																				0.690	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		8	57						8	57	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808751	77808751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808751delG	ENST00000269397.4	-	5	867	c.690delC	c.(688-690)cccfs	p.P230fs		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	230	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATTCCGTTGGGGGGGCCCT	0.642											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(688-690)ccfs		chromobox homolog 4							66.0	73.0	71.0					17																	77808751		2164	4201	6365	SO:0001589	frameshift_variant	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808751delG	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.690delC	17.37:g.77808751delG	ENSP00000269397:p.Pro230fs		OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.P230fs	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	867	-			230			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Frame_Shift_Del	DEL	ENST00000269397.4	37	c.690delC	CCDS32758.1																																																																																				0.642	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		32	103						32	103	---	---	---	---
SECTM1	6398	broad.mit.edu	37	17	80285100	80285101	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80285100_80285101insG	ENST00000269389.3	-	2	366_367	c.16_17insC	c.(16-18)ctgfs	p.L6fs	SECTM1_ENST00000580437.1_Frame_Shift_Ins_p.L6fs	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	6					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGAATGCCAGGGGGCAGGTC	0.624																																						ENST00000269389.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(16-18)ggcfs		secreted and transmembrane 1																																				SO:0001589	frameshift_variant	6398				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	g.chr17:80285100_80285101insG	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"""K12 protein"", ""type 1a transmembrane protein"""	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.17dupC	17.37:g.80285105_80285105dupG	ENSP00000269389:p.Leu6fs					SECTM1_ENST00000580437.1_Frame_Shift_Ins_p.G6fs	p.G6fs	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		2	366_367	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		6					B2R7H0|O00466	Frame_Shift_Ins	INS	ENST00000269389.3	37	c.16_17insC	CCDS11808.1																																																																																				0.624	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		7	14						7	14	---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47113130	47113130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:47113130delC	ENST00000261292.4	+	9	1669	c.1391delC	c.(1390-1392)acafs	p.T464fs	LIPG_ENST00000427224.2_Frame_Shift_Del_p.T390fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	464	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATTTTGTACAGAAGACCCT	0.507																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1390-1392)aafs		lipase, endothelial							93.0	92.0	92.0					18																	47113130		2203	4300	6503	SO:0001589	frameshift_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47113130delC	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1391delC	18.37:g.47113130delC	ENSP00000261292:p.Thr464fs					LIPG_ENST00000427224.2_Frame_Shift_Del_p.T390fs	p.T464fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			9	1669	+			464			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Frame_Shift_Del	DEL	ENST00000261292.4	37	c.1391delC	CCDS11938.1																																																																																				0.507	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		21	41						21	41	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.e8-2		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						75.0	83.0	80.0					18																	57013285		2202	4298	6500	SO:0001630	splice_region_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013285delT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-2A>-	18.37:g.57013285delT						LMAN1_ENST00000587940.1_Splice_Site		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			8	1540	-		Colorectal(73;0.0946)						Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	DEL	ENST00000251047.5	37		CCDS11974.1																																																																																				0.294	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	Intron	27	89						27	89	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72345748	72345748	+	Frame_Shift_Del	DEL	G	G	-	rs144140002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72345748delG	ENST00000299687.5	+	1	2773	c.2773delG	c.(2773-2775)gggfs	p.G926fs	ZNF407_ENST00000309902.6_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.G926fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	926					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCCCTGAAGGGGGTAGCCT	0.463																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(2773-2775)ggfs		zinc finger protein 407							78.0	79.0	79.0					18																	72345748		1920	4117	6037	SO:0001589	frameshift_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345748delG	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.2773delG	18.37:g.72345748delG	ENSP00000299687:p.Gly926fs					ZNF407_ENST00000309902.6_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.G926fs	p.G926fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2773	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	926					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Del	DEL	ENST00000299687.5	37	c.2773delG	CCDS45885.1																																																																																				0.463	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		8	105						8	105	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-	rs202075236	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3589527delG	ENST00000322315.5	+	4	724	c.679delG	c.(679-681)gggfs	p.G228fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	228										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(679-681)ggfs		GIPC PDZ domain containing family, member 3							35.0	41.0	39.0					19																	3589527		2203	4300	6503	SO:0001589	frameshift_variant	126326							g.chr19:3589527delG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.679delG	19.37:g.3589527delG	ENSP00000319254:p.Gly228fs						p.G228fs	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	724	+			228					O75227	Frame_Shift_Del	DEL	ENST00000322315.5	37	c.679delG	CCDS32871.1																																																																																				0.607	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		19	59						19	59	---	---	---	---
MATK	4145	broad.mit.edu	37	19	3784848	3784848	+	Frame_Shift_Del	DEL	G	G	-	rs564635842		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3784848delG	ENST00000310132.6	-	3	505	c.107delC	c.(106-108)cctfs	p.P37fs	MATK_ENST00000590821.1_5'Flank|MATK_ENST00000395045.2_Frame_Shift_Del_p.P38fs|MATK_ENST00000585778.1_Frame_Shift_Del_p.P37fs|MATK_ENST00000395040.2_5'UTR	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	37					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACGGGAGGGGGGTGCCA	0.657																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(106-108)ctfs		megakaryocyte-associated tyrosine kinase							20.0	21.0	21.0					19																	3784848		2161	4226	6387	SO:0001589	frameshift_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784848delG	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.107delC	19.37:g.3784848delG	ENSP00000308734:p.Pro37fs					MATK_ENST00000395040.2_5'UTR|MATK_ENST00000395045.2_Frame_Shift_Del_p.P38fs|MATK_ENST00000585778.1_Frame_Shift_Del_p.P37fs	p.P37fs	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	3	505	-		Hepatocellular(1079;0.137)	37					B3KNZ9|Q9NST8	Frame_Shift_Del	DEL	ENST00000310132.6	37	c.107delC	CCDS12114.1																																																																																				0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		2	4						2	4	---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-	rs546802383		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7976149delC	ENST00000397979.3	+	8	924	c.870delC	c.(868-870)gacfs	p.D290fs	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000545011.1_Frame_Shift_Del_p.D332fs|MAP2K7_ENST00000397981.3_Frame_Shift_Del_p.D290fs|MAP2K7_ENST00000397983.3_Frame_Shift_Del_p.D306fs	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						AGCGCATTGACCCCCCAGACC	0.706																																						ENST00000545011.1																			1	Substitution - coding silent(1)	p.D290D(1)	ovary(1)	breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(994-996)gafs		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						33.0	39.0	37.0					19																	7976149		1873	4089	5962	SO:0001589	frameshift_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.chr19:7976149delC	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.870delC	19.37:g.7976149delC	ENSP00000381066:p.Asp290fs					MAP2K7_ENST00000397983.3_Frame_Shift_Del_p.D306fs|MAP2K7_ENST00000397979.3_Frame_Shift_Del_p.D290fs|MAP2K7_ENST00000397981.3_Frame_Shift_Del_p.D290fs	p.D332fs			O14733	MP2K7_HUMAN			8	1061	+			290			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Frame_Shift_Del	DEL	ENST00000397979.3	37	c.996delC	CCDS42491.1																																																																																				0.706	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			12	75						12	75	---	---	---	---
OLFM2	93145	broad.mit.edu	37	19	9964954	9964954	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:9964954delG	ENST00000264833.4	-	6	1458	c.1273delC	c.(1273-1275)cggfs	p.R425fs	OLFM2_ENST00000590841.1_Frame_Shift_Del_p.R347fs|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	425	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCGCGCTCCCGGGGGTTGTAA	0.557																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1273-1275)ggfs		olfactomedin 2							100.0	90.0	93.0					19																	9964954		2203	4300	6503	SO:0001589	frameshift_variant	93145					extracellular region		g.chr19:9964954delG	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1273delC	19.37:g.9964954delG	ENSP00000264833:p.Arg425fs					OLFM2_ENST00000590841.1_Frame_Shift_Del_p.R347fs	p.R425fs	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1458	-			425			Olfactomedin-like.		Q6IMJ3|Q96FC2	Frame_Shift_Del	DEL	ENST00000264833.4	37	c.1273delC	CCDS12221.1																																																																																				0.557	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			30	100						30	100	---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14029735	14029736	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14029735_14029736insC	ENST00000318003.7	+	10	1270_1271	c.1029_1030insC	c.(1030-1032)cccfs	p.P344fs	CC2D1A_ENST00000589606.1_Frame_Shift_Ins_p.P344fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	344	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTGCCCCCACCCCCGAGGAC	0.668																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1027-1032)ccccccfs		coiled-coil and C2 domain containing 1A																																				SO:0001589	frameshift_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14029735_14029736insC	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1034dupC	19.37:g.14029740_14029740dupC	ENSP00000313601:p.Pro344fs					CC2D1A_ENST00000589606.1_Frame_Shift_Ins_p.PP343fs	p.PP343fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		10	1270_1271	+			343			Pro-rich.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Frame_Shift_Ins	INS	ENST00000318003.7	37	c.1029_1030insC	CCDS42512.1																																																																																				0.668	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		10	30						10	30	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14562728	14562728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14562728delC	ENST00000242783.6	+	7	1223	c.1058delC	c.(1057-1059)accfs	p.T353fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.T359fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	353	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGACCTGGGACCCCAGACAGC	0.682																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1057-1059)acfs		protein kinase N1							21.0	29.0	26.0					19																	14562728		1938	4133	6071	SO:0001589	frameshift_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14562728delC	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1058delC	19.37:g.14562728delC	ENSP00000242783:p.Thr353fs					PKN1_ENST00000342216.4_Frame_Shift_Del_p.T359fs	p.T353fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			7	1223	+			353			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Frame_Shift_Del	DEL	ENST00000242783.6	37	c.1058delC	CCDS42513.1																																																																																				0.682	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		14	33						14	33	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18888096	18888096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18888096delC	ENST00000321949.8	+	14	1835	c.1809delC	c.(1807-1809)gacfs	p.D603fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.D361fs|CRTC1_ENST00000338797.6_Frame_Shift_Del_p.D619fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.D562fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCAAGATCGACCCCCTGACCC	0.642																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1855-1857)gafs		CREB regulated transcription coactivator 1							196.0	209.0	205.0					19																	18888096		2203	4300	6503	SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888096delC	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1809delC	19.37:g.18888096delC	ENSP00000323332:p.Asp603fs					CRTC1_ENST00000594658.1_Frame_Shift_Del_p.D562fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.D361fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.D603fs	p.D619fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1882	+			603						Frame_Shift_Del	DEL	ENST00000321949.8	37	c.1857delC	CCDS32963.1																																																																																				0.642	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		17	567						17	567	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:21476363delT	ENST00000356929.3	-	4	1602	c.1405delA	c.(1405-1407)attfs	p.I469fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1405-1407)ttfs		zinc finger protein 708							25.0	28.0	27.0					19																	21476363		2186	4270	6456	SO:0001589	frameshift_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476363delT	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1405delA	19.37:g.21476363delT	ENSP00000349401:p.Ile469fs						p.I469fs	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1602	-			469					Q6ZMR0	Frame_Shift_Del	DEL	ENST00000356929.3	37	c.1405delA	CCDS32980.1																																																																																				0.313	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		13	32						13	32	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210375	37210375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:37210375delA	ENST00000536254.2	+	6	971	c.749delA	c.(748-750)gaafs	p.E250fs	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000585696.1_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000392163.2_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000588311.1_Frame_Shift_Del_p.E219fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	250					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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACCAATATTGAAAAAAAACAT	0.348																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(655-657)gafs		zinc finger protein 567							24.0	27.0	26.0					19																	37210375		2189	4287	6476	SO:0001589	frameshift_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210375delA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.749delA	19.37:g.37210375delA	ENSP00000441838:p.Glu250fs					ZNF567_ENST00000588311.1_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000392163.2_Frame_Shift_Del_p.E219fs|ZNF567_ENST00000360729.4_Frame_Shift_Del_p.E219fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Frame_Shift_Del_p.E250fs	p.E219fs			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1886	+	Esophageal squamous(110;0.198)		250					B3KX49|Q6N044	Frame_Shift_Del	DEL	ENST00000536254.2	37	c.656delA																																																																																					0.348	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		9	26						9	26	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40316563delG	ENST00000593685.1	-	11	2150	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.P561fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.P521fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	561	Poly-Pro.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATCAGCTCCGGGGGTGGTGG	0.711																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1681-1683)cgfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							24.0	30.0	28.0					19																	40316563		2143	4210	6353	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316563delG	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1682delC	19.37:g.40316563delG	ENSP00000469863:p.Pro561fs					DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.P561fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.P521fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.P533fs	p.P561fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2150	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		561			Poly-Pro.		O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1682delC	CCDS12543.1																																																																																				0.711	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		10	135						10	135	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42752695	42752695	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42752695delC	ENST00000222329.4	-	4	1726	c.1569delG	c.(1567-1569)gggfs	p.G523fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.G448fs|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	523					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGTGAGGGGCCCCCCAGCCT	0.697																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1567-1569)ggfs		Ets2 repressor factor							19.0	25.0	23.0					19																	42752695		2200	4285	6485	SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752695delC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1569delG	19.37:g.42752695delC	ENSP00000222329:p.Gly523fs					ERF_ENST00000440177.2_Frame_Shift_Del_p.G448fs|AC006486.9_ENST00000594664.1_Intron	p.G523fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1726	-		Prostate(69;0.00682)	523					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	ENST00000222329.4	37	c.1569delG	CCDS12600.1																																																																																				0.697	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		35	50						35	50	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42796883delC	ENST00000575354.2	+	14	3381	c.3341delC	c.(3340-3342)gccfs	p.A1114fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.A2022fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A1113fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Insertion - Frameshift(1)	p.S1117fs*34(1)	large_intestine(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6064-6066)gcfs		capicua transcriptional repressor							45.0	53.0	50.0					19																	42796883		2203	4299	6502	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796883delC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3341delC	19.37:g.42796883delC	ENSP00000458663:p.Ala1114fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.A1113fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.A1114fs	p.A2022fs			Q96RK0	CIC_HUMAN			15	6133	+		Prostate(69;0.00682)	1114					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6065delC	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	124						10	124	---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46215483	46215483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46215483delG	ENST00000317683.3	-	2	1404	c.1271delC	c.(1270-1272)ccgfs	p.P424fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	424										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGTCGGCCGGGGGTGGCTC	0.726																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(1270-1272)cgfs		F-box protein 46							7.0	9.0	8.0					19																	46215483		1633	3649	5282	SO:0001589	frameshift_variant	23403						protein binding	g.chr19:46215483delG	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1271delC	19.37:g.46215483delG	ENSP00000410007:p.Pro424fs						p.P424fs	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1404	-		Ovarian(192;0.179)|all_neural(266;0.224)	424						Frame_Shift_Del	DEL	ENST00000317683.3	37	c.1271delC	CCDS46116.1																																																																																				0.726	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		21	35						21	35	---	---	---	---
SIX5	147912	broad.mit.edu	37	19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-	rs373614429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46269107delG	ENST00000317578.6	-	3	2253	c.1872delC	c.(1870-1872)cccfs	p.P624fs	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	624					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1870-1872)ccfs		SIX homeobox 5							8.0	11.0	10.0					19																	46269107		2146	4215	6361	SO:0001589	frameshift_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46269107delG	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1872delC	19.37:g.46269107delG	ENSP00000316842:p.Pro624fs					AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	p.P624fs	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2253	-		Ovarian(192;0.0308)|all_neural(266;0.112)	624						Frame_Shift_Del	DEL	ENST00000317578.6	37	c.1872delC	CCDS12673.1																																																																																				0.711	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		8	31						8	31	---	---	---	---
DMWD	1762	broad.mit.edu	37	19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46289388delG	ENST00000270223.6	-	3	1411	c.1366delC	c.(1366-1368)ctgfs	p.L456fs	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	456										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1366-1368)tgfs		dystrophia myotonica, WD repeat containing							4.0	6.0	5.0					19																	46289388		1989	3960	5949	SO:0001589	frameshift_variant	1762				meiosis			g.chr19:46289388delG	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.1366delC	19.37:g.46289388delG	ENSP00000270223:p.Leu456fs					DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs	p.L456fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	1411	-		Ovarian(192;0.0308)|all_neural(266;0.112)	456						Frame_Shift_Del	DEL	ENST00000270223.6	37	c.1366delC	CCDS33054.1																																																																																				0.711	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		6	13						6	13	---	---	---	---
MYPOP	339344	broad.mit.edu	37	19	46404622	46404622	+	Frame_Shift_Del	DEL	G	G	-	rs371516350	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46404622delG	ENST00000322217.5	-	2	496	c.410delC	c.(409-411)cctfs	p.P137fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGGCCGCAGGGGGCTCCTC	0.706																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(409-411)ctfs		Myb-related transcription factor, partner of profilin							4.0	6.0	5.0					19																	46404622		1940	3829	5769	SO:0001589	frameshift_variant	339344					nucleus	DNA binding	g.chr19:46404622delG	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.410delC	19.37:g.46404622delG	ENSP00000325402:p.Pro137fs						p.P137fs	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			2	496	-			137			Pro-rich.			Frame_Shift_Del	DEL	ENST00000322217.5	37	c.410delC	CCDS33055.1																																																																																				0.706	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		2	4						2	4	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49000732delG	ENST00000600059.1	-	11	3821	c.3594delC	c.(3592-3594)cccfs	p.P1198fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1227fs			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1198	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCGGGCTTGGGGGGGTCCC	0.711																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(3592-3594)ccfs		lemur tyrosine kinase 3							29.0	33.0	32.0					19																	49000732		1919	4108	6027	SO:0001589	frameshift_variant	114783							g.chr19:49000732delG	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3594delC	19.37:g.49000732delG	ENSP00000472020:p.Pro1198fs					LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1227fs	p.P1198fs						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	3821	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Frame_Shift_Del	DEL	ENST00000600059.1	37	c.3594delC																																																																																					0.711	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		18	59						18	59	---	---	---	---
KLK8	11202	broad.mit.edu	37	19	51501092	51501093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:51501092_51501093insG	ENST00000600767.1	-	6	1030_1031	c.541_542insC	c.(541-543)cagfs	p.Q181fs	KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Frame_Shift_Ins_p.Q226fs|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Frame_Shift_Ins_p.Q40fs|KLK8_ENST00000291726.7_Frame_Shift_Ins_p.Q181fs			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACACTTCTTCTGGGGAAAGATT	0.52																																						ENST00000600767.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(541-543)gaafs		kallikrein-related peptidase 8																																				SO:0001589	frameshift_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51501092_51501093insG	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.542dupC	19.37:g.51501096_51501096dupG	ENSP00000472016:p.Gln181fs					CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000391806.2_Frame_Shift_Ins_p.E226fs|KLK8_ENST00000347619.4_Frame_Shift_Ins_p.E40fs|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000291726.7_Frame_Shift_Ins_p.E181fs|KLK8_ENST00000320838.5_Intron	p.E181fs			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	6	1030_1031	-		all_neural(266;0.026)	181			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Frame_Shift_Ins	INS	ENST00000600767.1	37	c.541_542insC	CCDS12813.1																																																																																				0.520	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		33	106						33	106	---	---	---	---
SUV420H2	84787	broad.mit.edu	37	19	55853590	55853590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55853590delC	ENST00000255613.3	+	3	366	c.118delC	c.(118-120)cccfs	p.P41fs	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	41					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCCCTGTGCCCCCCCTGCG	0.716																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(118-120)ccfs		suppressor of variegation 4-20 homolog 2 (Drosophila)							8.0	10.0	9.0					19																	55853590		2162	4246	6408	SO:0001589	frameshift_variant	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853590delC	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.118delC	19.37:g.55853590delC	ENSP00000255613:p.Pro41fs					AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	p.P41fs	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	366	+	Breast(117;0.191)		41					Q8WZ10|Q9BRZ6	Frame_Shift_Del	DEL	ENST00000255613.3	37	c.118delC	CCDS12922.1																																																																																				0.716	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		9	22						9	22	---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56206666	56206666	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56206666delC	ENST00000270460.6	+	11	1986	c.1675delC	c.(1675-1677)cccfs	p.P560fs	EPN1_ENST00000085079.7_Frame_Shift_Del_p.P534fs|AC010525.7_ENST00000589698.1_lincRNA|EPN1_ENST00000411543.2_Frame_Shift_Del_p.P646fs|AC010525.6_ENST00000587937.1_lincRNA|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	560	3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCTGGCCTGCCCCCCATGAT	0.697																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1933-1935)ccfs		epsin 1							7.0	9.0	8.0					19																	56206666		1853	4020	5873	SO:0001589	frameshift_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206666delC	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1675delC	19.37:g.56206666delC	ENSP00000270460:p.Pro560fs					EPN1_ENST00000270460.6_Frame_Shift_Del_p.P560fs|EPN1_ENST00000085079.7_Frame_Shift_Del_p.P534fs	p.P646fs	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	11	2480	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	560					Q86ST3|Q9HA18	Frame_Shift_Del	DEL	ENST00000270460.6	37	c.1933delC	CCDS46199.1																																																																																				0.697	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		8	9						8	9	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56466960	56466961	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56466960_56466961insT	ENST00000291971.3	+	3	1607_1608	c.1536_1537insT	c.(1537-1539)tttfs	p.F513fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.F513fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	513	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTTCAGGAATTTTTTGCGGC	0.465																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1534-1539)gattttfs		NLR family, pyrin domain containing 8																																				SO:0001589	frameshift_variant	126205					cytoplasm	ATP binding	g.chr19:56466960_56466961insT	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1542dupT	19.37:g.56466966_56466966dupT	ENSP00000291971:p.Phe513fs					NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.DF512fs	p.DF512fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1607_1608	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	512			NACHT.		Q7RTR4	Frame_Shift_Ins	INS	ENST00000291971.3	37	c.1536_1537insT	CCDS12937.1																																																																																				0.465	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		68	217						68	217	---	---	---	---
ZNF787	126208	broad.mit.edu	37	19	56599606	56599606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56599606delC	ENST00000270459.3	-	3	1053	c.935delG	c.(934-936)ggcfs	p.G312fs		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGGCTCCTCGCCCCCCGCCGC	0.761																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(934-936)gcfs		zinc finger protein 787							3.0	3.0	3.0					19																	56599606		1234	2913	4147	SO:0001589	frameshift_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56599606delC	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.935delG	19.37:g.56599606delC	ENSP00000270459:p.Gly312fs						p.G312fs	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	1053	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	312					O00455	Frame_Shift_Del	DEL	ENST00000270459.3	37	c.935delG	CCDS42634.1																																																																																				0.761	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		6	8						6	8	---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084579	58084579	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58084579delA	ENST00000196489.3	-	4	915	c.693delT	c.(691-693)tttfs	p.F231fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCTAGGGTGAAAAAAAGTGT	0.453																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(691-693)ttfs		zinc finger protein 416							161.0	161.0	161.0					19																	58084579		2203	4300	6503	SO:0001589	frameshift_variant	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084579delA	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.693delT	19.37:g.58084579delA	ENSP00000196489:p.Phe231fs						p.F231fs	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	915	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	231					Q9NWW8	Frame_Shift_Del	DEL	ENST00000196489.3	37	c.693delT	CCDS12954.1																																																																																				0.453	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		7	212						7	212	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3677446	3677446	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3677446delG	ENST00000344754.4	-	10	2469	c.2470delC	c.(2470-2472)ctgfs	p.L824fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.L824fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	824	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAAGGCCAGGGGGCGGCTG	0.637																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2470-2472)tgfs		sialic acid binding Ig-like lectin 1, sialoadhesin							43.0	41.0	42.0					20																	3677446		2203	4300	6503	SO:0001589	frameshift_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677446delG	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2470delC	20.37:g.3677446delG	ENSP00000341141:p.Leu824fs					SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.L824fs	p.L824fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			10	2469	-			824			Ig-like C2-type 8.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Frame_Shift_Del	DEL	ENST00000344754.4	37	c.2470delC	CCDS13060.1																																																																																				0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		24	56						24	56	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36841555	36841555	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:36841555delG	ENST00000279024.4	-	14	3763	c.3492delC	c.(3490-3492)cccfs	p.P1164fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1164										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTCTGCCTGGGGGGCTGCT	0.642																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3490-3492)ccfs		KIAA1755							38.0	41.0	40.0					20																	36841555		2203	4300	6503	SO:0001589	frameshift_variant	85449							g.chr20:36841555delG	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3492delC	20.37:g.36841555delG	ENSP00000279024:p.Pro1164fs						p.P1164fs	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			14	3763	-		Myeloproliferative disorder(115;0.00874)	1164					Q9C0A8	Frame_Shift_Del	DEL	ENST00000279024.4	37	c.3492delC	CCDS33467.1																																																																																				0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		24	70						24	70	---	---	---	---
MSANTD2P1	100130310	broad.mit.edu	37	21	24474482	24474482	+	lincRNA	DEL	A	A	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:24474482delA	ENST00000421604.1	+	0	297																											actccatctcaaaaaaaaaat	0.403																																						ENST00000421604.1																			0																																																			0							g.chr21:24474482delA																													21.37:g.24474482delA														0	297	+									RNA	DEL	ENST00000421604.1	37																																																																																						0.403	AP001255.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171055.1			2	4						2	4	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35122567	35122567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35122567delC	ENST00000381318.3	+	6	754	c.466delC	c.(466-468)cccfs	p.P157fs	ITSN1_ENST00000399326.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.P120fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.P157fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.P157fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	157					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(466-468)ccfs		intersectin 1 (SH3 domain protein)							120.0	103.0	109.0					21																	35122567		2203	4300	6503	SO:0001589	frameshift_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35122567delC	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.466delC	21.37:g.35122567delC	ENSP00000370719:p.Pro157fs					ITSN1_ENST00000381285.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.P157fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.P120fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.P157fs	p.P157fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			6	754	+			157					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Frame_Shift_Del	DEL	ENST00000381318.3	37	c.466delC	CCDS33545.1																																																																																				0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		14	79						14	79	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40571323	40571324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40571323_40571324insT	ENST00000333229.2	-	40	5345_5346	c.5018_5019insA	c.(5017-5019)aagfs	p.K1673fs	BRWD1_ENST00000380800.3_Frame_Shift_Ins_p.K1673fs|BRWD1_ENST00000342449.3_Frame_Shift_Ins_p.K1673fs	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1673					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATGTAATAACTTTTTTCTAGC	0.381																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(5017-5019)attfs		bromodomain and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571323_40571324insT	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5019dupA	21.37:g.40571329_40571329dupT	ENSP00000330753:p.Lys1673fs					BRWD1_ENST00000333229.2_Frame_Shift_Ins_p.I1673fs|BRWD1_ENST00000380800.3_Frame_Shift_Ins_p.I1673fs	p.I1673fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5096_5097	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1673					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Ins	INS	ENST00000333229.2	37	c.5018_5019insA	CCDS13662.1																																																																																				0.381	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		7	72						7	72	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43504322	43504322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43504322delG	ENST00000408910.2	+	3	448	c.448delG	c.(448-450)gggfs	p.G151fs	UMODL1_ENST00000400424.2_Frame_Shift_Del_p.G79fs|UMODL1_ENST00000400427.1_Frame_Shift_Del_p.G79fs|UMODL1_ENST00000408989.2_Frame_Shift_Del_p.G151fs	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	151	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGGTCAGGGGGGCGCTA	0.652																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(232-234)ggfs		uromodulin-like 1							60.0	63.0	62.0					21																	43504322		1913	4132	6045	SO:0001589	frameshift_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43504322delG		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.448delG	21.37:g.43504322delG	ENSP00000386147:p.Gly151fs					UMODL1_ENST00000408989.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000408910.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000400424.1_Frame_Shift_Del_p.G79fs	p.G79fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			3	628	+			151			EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Frame_Shift_Del	DEL	ENST00000408910.2	37	c.232delG	CCDS42936.1																																																																																				0.652	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			32	123						32	123	---	---	---	---
KRTAP10-10	353333	broad.mit.edu	37	21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tccfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(262-264)tcfs		keratin associated protein 10-10							123.0	117.0	119.0					21																	46057597		2203	4300	6503	SO:0001589	frameshift_variant	353333					keratin filament		g.chr21:46057597delC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.263delC	21.37:g.46057597delC	ENSP00000369438:p.Ser88fs					TSPEAR_ENST00000323084.4_Intron	p.S88fs	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	325	+			88			15 X 5 AA repeats of C-C-X(3).			Frame_Shift_Del	DEL	ENST00000380095.1	37	c.263delC	CCDS33585.1																																																																																				0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		8	203						8	203	---	---	---	---
IL17RA	23765	broad.mit.edu	37	22	17590304	17590304	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:17590304delC	ENST00000319363.6	+	13	2328	c.2195delC	c.(2194-2196)accfs	p.T732fs		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	732					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGCAGCAGCACCCCCATGGCG	0.682																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(2194-2196)acfs		interleukin 17 receptor A							24.0	25.0	24.0					22																	17590304		2203	4294	6497	SO:0001589	frameshift_variant	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17590304delC	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.2195delC	22.37:g.17590304delC	ENSP00000320936:p.Thr732fs						p.T732fs	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	2328	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	732					O43844|Q20WK1	Frame_Shift_Del	DEL	ENST00000319363.6	37	c.2195delC	CCDS13739.1																																																																																				0.682	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		8	32						8	32	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:20936976delC	ENST00000263205.7	+	10	1420	c.1351delC	c.(1351-1353)cccfs	p.P452fs	MED15_ENST00000425759.2_Frame_Shift_Del_p.P301fs|MED15_ENST00000292733.7_Frame_Shift_Del_p.P412fs|MED15_ENST00000406969.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000382974.2_Frame_Shift_Del_p.P341fs|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000541476.1_Frame_Shift_Del_p.P386fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	452	Poly-Pro.|Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1351-1353)ccfs		mediator complex subunit 15							13.0	17.0	15.0					22																	20936976		2187	4273	6460	SO:0001589	frameshift_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20936976delC	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1351delC	22.37:g.20936976delC	ENSP00000263205:p.Pro452fs					MED15_ENST00000425759.2_Frame_Shift_Del_p.P301fs|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000292733.7_Frame_Shift_Del_p.P412fs|MED15_ENST00000541476.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000382974.2_Frame_Shift_Del_p.P341fs|MED15_ENST00000542773.1_Intron	p.P452fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		10	1420	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	452			Poly-Pro.|Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Frame_Shift_Del	DEL	ENST00000263205.7	37	c.1351delC	CCDS33602.1																																																																																				0.726	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		16	38						16	38	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120299	38120299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38120299delG	ENST00000406386.3	+	7	1991	c.1736delG	c.(1735-1737)tgtfs	p.C579fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	579					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAACATCCTGTGCCCAGCGG	0.592																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1735-1737)ttfs		TRIO and F-actin binding protein							78.0	126.0	111.0					22																	38120299		1930	4160	6090	SO:0001589	frameshift_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120299delG	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1736delG	22.37:g.38120299delG	ENSP00000384312:p.Cys579fs					RP1-37E16.12_ENST00000455236.1_RNA	p.C579fs	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1991	+	Melanoma(58;0.0574)		579					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	ENST00000406386.3	37	c.1736delG	CCDS43015.1																																																																																				0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	156						7	156	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472963	70472963	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70472963delG	ENST00000353904.2	-	2	330	c.143delC	c.(142-144)cctfs	p.P48fs	ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P48fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	48					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGAAGGGCCAGGGGGGGCCCA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(142-144)ctfs		zinc finger, MYM-type 3			,,,	26,3567		3,11,9,1516,524	12.0	13.0	13.0		,,,	0.6	1.0	X		13	38,6326		4,14,16,2310,1692	no	frameshift,frameshift,frameshift,frameshift	ZMYM3	NM_201599.2,NM_005096.3,NM_001171163.1,NM_001171162.1	,,,	7,25,25,3826,2216	A1A1,A1R,A1,RR,R		0.5971,0.7236,0.6428	,,,	,,,	70472963	64,9893	2168	4247	6415	SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472963delG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.143delC	X.37:g.70472963delG	ENSP00000343909:p.Pro48fs		OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.P48fs	p.P48fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			2	840	-	Renal(35;0.156)		48					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.143delC	CCDS14409.1																																																																																				0.607	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		9	6						9	6	---	---	---	---
TAF7L	54457	broad.mit.edu	37	X	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)accfs	p.T170fs	TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(508-510)ccfs		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							156.0	156.0	156.0					X																	100538467		2203	4300	6503	SO:0001589	frameshift_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538467delT	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.508delA	X.37:g.100538467delT	ENSP00000361998:p.Thr170fs					TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	p.T170fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			4	519	-			170					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Frame_Shift_Del	DEL	ENST00000372907.3	37	c.508delA	CCDS35347.1																																																																																				0.393	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			7	137						7	137	---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129370543	129370543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:129370543delT	ENST00000370978.4	-	7	717	c.564delA	c.(562-564)aaafs	p.K188fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	188	Ser-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)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGGTCTTTGGTTTTTTTGGAG	0.358																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(562-564)aafs		zinc finger protein 280C							140.0	115.0	124.0					X																	129370543		2203	4300	6503	SO:0001589	frameshift_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370543delT	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.564delA	X.37:g.129370543delT	ENSP00000360017:p.Lys188fs						p.K188fs	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	717	-			188			Ser-rich.		A8K2V8|Q9NXR3	Frame_Shift_Del	DEL	ENST00000370978.4	37	c.564delA	CCDS14622.1																																																																																				0.358	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		9	51						9	51	---	---	---	---
