#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
KAL1	3730	broad.mit.edu	37	X	8699907	8699907	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chrX:8699907C>A	ENST00000262648.3	-	1	320	c.171G>T	c.(169-171)caG>caT	p.Q57H		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	57					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGCGAGTGATCTGCAGGCTCA	0.756																																						ENST00000262648.3											0			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(169-171)caG>caT	Kallmann syndrome 1 sequence						9.0	10.0	10.0					X																	8699907		2091	4053	6144	SO:0001583	missense	3730			axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8699907C>A			CCDS14130.1	CCDS14130.1	Xp22.32	2013-02-11			2013-02-11			ENSG00000011201	ENSG00000011201	ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	6211	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836	300836		KAL, ADMLX		KAL, ADMLX		11463336	11463336	Standard	Standard	NM_000216	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	uc004csf.3	P23352	P23352	OTTHUMG00000021107	OTTHUMG00000021107	ENST00000262648.3:c.171G>T	X.37:g.8699907C>A	ENSP00000262648:p.Gln57His			p.Q57H	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN			1	320	-			57		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.171G>T	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	c	1.698	-0.502232	0.04261	.	.	ENSG00000011201	ENST00000262648	T	0.73152	-0.72	3.54	1.68	0.24146	3.54	1.68	0.24146	.	0.262685	0.30329	U	0.009869	T	0.38026	0.1025	N	0.04162	-0.26	0.23180	N	0.998162	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	10	0.05620	T	0.96	.	6.4111	0.21692	0.0:0.5508:0.3447:0.1045	.	57	P23352	KALM_HUMAN	H	57	ENSP00000262648:Q57H	ENSP00000262648:Q57H	Q	-	3	2	2	KAL1	8659907	8659907	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	2.116000	0.41930	-0.029000	0.13827	-0.322000	0.08575	CAG		0.756	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1		56.091680	-17	-17	15	15	NM_000216		17	59.028693	59.028693	2	0.894737	1	0	3.62473e-10	1	4.25512e-10	17	2	0.894737
TEX13A	56157	broad.mit.edu	37	X	104463874	104463874	+	Silent	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chrX:104463874G>A	ENST00000413579.1	-	5	1113	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S	TEX13A_ENST00000372578.3_Missense_Mutation_p.P335L|TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	334							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537																																						ENST00000372578.3											0			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(1003-1005)cCg>cTg	testis expressed 13A						104.0	99.0	100.0					X																	104463874		2150	4248	6398	SO:0001819	synonymous_variant	56157				intracellular	zinc ion binding	g.chrX:104463874G>A	AF285597	AF285597	CCDS76005.1	CCDS76005.1	Xq28	2012-04-20	2007-03-13		2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629	ENSG00000133149	ENSG00000268629				11735	11735	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300312	300312	"""testis expressed sequence 13A"""		"""testis expressed sequence 13A"""			11279525	11279525	Standard	Standard	NM_031274	NM_031274		Approved		uc004ema.3	uc004ema.3	Q9BXU3	Q9BXU3	OTTHUMG00000022133	OTTHUMG00000022133	ENST00000413579.1:c.1002C>T	X.37:g.104463874G>A			TEX13A_ENST00000372575.1_Missense_Mutation_p.P335L|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Silent_p.S334S|IL1RAPL2_ENST00000372582.1_Intron	p.P335L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	1115	-			0		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1004C>T		.	.	.	.	.	.	.	.	.	.	G	9.010	0.982250	0.18889	.	.	ENSG00000133149	ENST00000372578;ENST00000372575	.	.	.	3.01	1.16	0.20824	3.01	1.16	0.20824	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36744	-0.9735	5	0.87932	D	0	.	3.0504	0.06167	0.1549:0.0:0.5797:0.2653	.	.	.	.	L	335	.	ENSP00000361656:P335L	P	-	2	0	0	TEX13A	104350530	104350530	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	1.052000	0.30429	0.174000	0.19809	-0.776000	0.03382	CCG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			0.698932	-47	-47	26	26	NM_031274		3	6.527967	6.527967	31	0.088235	0	0	0	1	0	3	31	0.088235
TTN	7273	broad.mit.edu	37	2	179427170	179427170	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:179427170C>A	ENST00000591111.1	-	276	78990	c.78766G>T	c.(78766-78768)Ggt>Tgt	p.G26256C	TTN_ENST00000342992.6_Missense_Mutation_p.G25329C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G19024C|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18832C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18957C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G27897C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26256	Fibronectin type-III 91. {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)			ACCACATAACCAGTAATTTTG	0.443																																						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.(83689-83691)Ggt>Tgt	titin						72.0	73.0	72.0					2																	179427170		1936	4149	6085	SO:0001583	missense	7273					ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427170C>A	X90568	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	12403	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			188840	188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	2129545, 10051295	Standard	Standard	NM_003319	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	uc031rqd.1	Q8WZ42	Q8WZ42	OTTHUMG00000154448	OTTHUMG00000154448	ENST00000591111.1:c.78766G>T	2.37:g.179427170C>A	ENSP00000465570:p.Gly26256Cys		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26256C|TTN_ENST00000342175.6_Missense_Mutation_p.G19024C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G18957C|TTN_ENST00000342992.6_Missense_Mutation_p.G25329C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G18832C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.G27897C	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)		326	83913	-			26256	Fibronectin type-III 103.	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.83689G>T		.	.	.	.	.	.	.	.	.	.	C	10.58	1.389050	0.25118	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.89	5.01	0.66863	5.89	5.01	0.66863	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75867	0.3908	M	0.85630	2.765	0.34300	D	0.684187	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72625	0.978;0.978;0.978;0.968	D	0.84632	0.0690	9	0.87932	D	0	.	9.9879	0.41852	0.1388:0.7925:0.0:0.0687	.	18832;18957;19024;26256	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	25329;18832;19024;18957;18830	ENSP00000343764:G25329C;ENSP00000434586:G18832C;ENSP00000340554:G19024C;ENSP00000352154:G18957C	ENSP00000340554:G19024C	G	-	1	0	0	TTN	179135416	179135416	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.239000	0.43079	1.473000	0.48159	0.655000	0.94253	GGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		-3.715808	-6	-6	38	38	NM_133378		3	6.406204	6.406204	47	0.060000	1	0	1	1	1	3	47	0.06
CD160	11126	broad.mit.edu	37	1	145706743	145706743	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:145706743C>A	ENST00000369288.2	-	3	233	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	CD160_ENST00000401557.3_Missense_Mutation_p.G6C|CD160_ENST00000235933.6_Missense_Mutation_p.G6C|CD160_ENST00000369290.1_Missense_Mutation_p.G6C	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	6					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)			CAGCCTCTGCCGGGTTCCAAC	0.577																																					Colon(182;1122 1999 4065 44014 53024)	ENST00000369290.1											0			endometrium(3)|large_intestine(2)|lung(2)	7						c.(16-18)Ggc>Tgc	CD160 molecule						66.0	62.0	63.0					1																	145706743		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.chr1:145706743C>A	AF060981	AF060981	CCDS72861.1	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281	ENSG00000117281	ENSG00000117281		"""CD molecules"""	"""CD molecules"""	17013	17013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604463	604463	"""CD160 antigen"""		"""CD160 antigen"""			9743336, 9973372	9743336, 9973372	Standard	Standard	NM_007053	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	uc001eol.1	O95971	O95971	OTTHUMG00000013749	OTTHUMG00000013749	ENST00000369288.2:c.16G>T	1.37:g.145706743C>A	ENSP00000358294:p.Gly6Cys		CD160_ENST00000235933.6_Missense_Mutation_p.G6C|CD160_ENST00000369288.2_Missense_Mutation_p.G6C|CD160_ENST00000401557.3_Missense_Mutation_p.G6C	p.G6C			O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		2	173	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		6			Missense_Mutation	SNP	ENST00000369288.2	37	c.16G>T	CCDS923.1	.	.	.	.	.	.	.	.	.	.	C	9.058	0.993681	0.19043	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.64085	-0.08;-0.08;-0.08	3.68	0.462	0.16695	3.68	0.462	0.16695	.	0.204155	0.24654	N	0.036687	T	0.25791	0.0628	L	0.29908	0.895	0.09310	N	1	P;B	0.51351	0.944;0.328	B;B	0.42771	0.397;0.077	T	0.18398	-1.0338	10	0.87932	D	0	-4.0964	2.8773	0.05635	0.2176:0.5364:0.0:0.246	.	6;6	Q5T2V6;O95971	.;BY55_HUMAN	C	6	ENSP00000235933:G6C;ENSP00000358294:G6C;ENSP00000385199:G6C	ENSP00000235933:G6C	G	-	1	0	0	CD160	144418100	144418100	0.051000	0.20477	0.068000	0.19968	0.045000	0.14185	0.726000	0.25984	0.369000	0.24510	-0.140000	0.14226	GGC		0.577	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2		0.197941	-6	-6	47	47	NM_007053		3	6.812117	6.812117	34	0.081081	1	0	1	1	1	3	34	0.081081
PPP1R3B	79660	broad.mit.edu	37	8	8998589	8998589	+	Silent	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr8:8998589C>T	ENST00000310455.3	-	2	723	c.573G>A	c.(571-573)acG>acA	p.T191T	PPP1R3B_ENST00000519699.1_Silent_p.T191T|RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	191	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		CGAAGGAGAACGTGTCCCTGT	0.483																																						ENST00000310455.3											0			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(571-573)acG>acA	protein phosphatase 1, regulatory subunit 3B						206.0	170.0	182.0					8																	8998589		2203	4300	6503	SO:0001819	synonymous_variant	79660			glycogen metabolic process			g.chr8:8998589C>T	AK024067	AK024067	CCDS5973.1	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281	ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	14942	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""		"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	11948623, 17555403	Standard	Standard	NM_024607	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	uc003wsn.4	Q86XI6	Q86XI6	OTTHUMG00000129329	OTTHUMG00000129329	ENST00000310455.3:c.573G>A	8.37:g.8998589C>T			PPP1R3B_ENST00000519699.1_Silent_p.T191T	p.T191T	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	723	-			191	CBM21.	B3KTV3|Q9H812	Silent	SNP	ENST00000310455.3	37	c.573G>A	CCDS5973.1																																																																																									0.483	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1		112.693498	-19	-19	60	60	NM_024607		37	112.820906	112.820906	44	0.456790	0	0	0	1	0	37	44	0.45679
NCOA2	10499	broad.mit.edu	37	8	71050447	71050447	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr8:71050447C>T	ENST00000452400.2	-	15	3330	c.3149G>A	c.(3148-3150)aGc>aAc	p.S1050N	NCOA2_ENST00000267974.4_Missense_Mutation_p.S138N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1050					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCTGTTTTGGCTGGCAAAAGA	0.488			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0			NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(3148-3150)aGc>aAc	nuclear receptor coactivator 2						77.0	78.0	77.0					8																	71050447		1884	4096	5980	SO:0001583	missense	10499			cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71050447C>T	X97674	X97674	CCDS47872.1	CCDS47872.1	8q13.3	2011-07-01			2011-07-01			ENSG00000140396	ENSG00000140396	ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	7669	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601993	601993						9111344, 8670870	9111344, 8670870	Standard	Standard	XM_005251128	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	uc003xyn.1	Q15596	Q15596	OTTHUMG00000164671	OTTHUMG00000164671	ENST00000452400.2:c.3149G>A	8.37:g.71050447C>T	ENSP00000399968:p.Ser1050Asn		NCOA2_ENST00000267974.4_Missense_Mutation_p.S138N	p.S1050N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		15	3330	-	Breast(64;0.201)		1050		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3149G>A	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.459|5.459	0.269832|0.269832	0.10349|0.10349	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06933	.|4.74;3.24	5.88|5.88	0.93|0.93	0.19454|0.19454	5.88|5.88	0.93|0.93	0.19454|0.19454	.|.	.|0.493833	.|0.25383	.|N	.|0.031074	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.03000|0.03000	-0.44|-0.44	0.25544|0.25544	N|N	0.987155|0.987155	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.06405	.|0.002;0.0	T|T	0.46610|0.46610	-0.9179|-0.9179	5|10	.|0.07644	.|T	.|0.81	.|.	11.1292|11.1292	0.48336|0.48336	0.0:0.4623:0.0:0.5377|0.0:0.4623:0.0:0.5377	.|.	.|138;1050	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	T|N	151|1050;138	.|ENSP00000399968:S1050N;ENSP00000267974:S138N	.|ENSP00000267974:S138N	A|S	-|-	1|2	0|0	0|0	NCOA2|NCOA2	71213001|71213001	71213001|71213001	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.955000|0.955000	0.61496|0.61496	1.358000|1.358000	0.34102|0.34102	-0.111000|-0.111000	0.12001|0.12001	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.488	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		60.539030	-10	-10	26	26			19	60.59709	60.597090	16	0.542857	0	0	0	1	0	19	16	0.542857
MYO3B	140469	hgsc.bcm.edu	37	2	171356174	171356174	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:171356174C>T	ENST00000408978.4	+	27	3288	c.3145C>T	c.(3145-3147)Cat>Tat	p.H1049Y	MYO3B_ENST00000334231.6_Missense_Mutation_p.H1058Y|MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Missense_Mutation_p.H1049Y	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1049	Myosin motor.				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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.H1049D(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAAATATTACCATGTTGAGCA	0.398																																																	1	Substitution - Missense(1)	ovary(1)															82.0	77.0	78.0					2																	171356174		1871	4109	5980	SO:0001583	missense	140469									CCDS42773.1, CCDS46446.1	CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			2011-09-27			ENSG00000071909	ENSG00000071909	ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	"""Myosins / Myosin superfamily : Class III"""	15576	15576	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610040	610040								Standard	Standard	NM_001083615	NM_001083615		Approved		uc002ufy.3	uc002ufy.3	Q8WXR4	Q8WXR4	OTTHUMG00000154002	OTTHUMG00000154002	ENST00000408978.4:c.3145C>T	2.37:g.171356174C>T	ENSP00000386213:p.His1049Tyr																	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37		CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792220	0.90453	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.70986	-0.53;1.56;-0.53;1.56	5.78	5.78	0.91487	5.78	5.78	0.91487	Myosin head, motor domain (1);	0.044994	0.85682	D	0.000000	D	0.87172	0.6111	M	0.87381	2.88	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.994;0.999	D	0.88290	0.2942	10	0.72032	D	0.01	.	20.0278	0.97529	0.0:1.0:0.0:0.0	.	1049;1049;1049	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	Y	1049;1049;1048;1058;1058	ENSP00000386497:H1049Y;ENSP00000386213:H1049Y;ENSP00000446237:H1058Y;ENSP00000335100:H1058Y	ENSP00000314213:H1048Y	H	+	1	0	0	MYO3B	171064420	171064420	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.438000	0.80431	2.732000	0.93576	0.655000	0.94253	CAT		0.398	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			-11	-11	37	37			16			23							16	23	
URAD	646625	broad.mit.edu	37	13	28562757	28562757	+	Silent	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr13:28562757G>A	ENST00000332715.5	-	1	34	c.18C>T	c.(16-18)gtC>gtT	p.V6V	RN7SL272P_ENST00000487762.2_RNA	NM_001105577.1	NP_001099047.1	A6NGE7	URAD_HUMAN	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	6					allantoin biosynthetic process (GO:0019428)|purine nucleobase metabolic process (GO:0006144)|urate catabolic process (GO:0019628)	peroxisome (GO:0005777)	carboxy-lyase activity (GO:0016831)										CCATGGAGTTGACCTTCTCAA	0.537																																						ENST00000332715.5											0										c.(16-18)gtC>gtT	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase						93.0	98.0	97.0					13																	28562757		2097	4227	6324	SO:0001819	synonymous_variant	646625						g.chr13:28562757G>A			CCDS45020.1	CCDS45020.1	13q12.2	2014-04-09	2013-06-18	2013-06-18	2014-04-09	2013-06-18	2013-06-18	ENSG00000183463	ENSG00000183463	ENSG00000183463	ENSG00000183463	4.1.1.n1			17785	17785	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""OHCU decarboxylase"""	"""OHCU decarboxylase"""	615804	615804	"""parahox cluster neighbor"""	PRHOXNB	"""parahox cluster neighbor"""	PRHOXNB		16462750	16462750	Standard	Standard	NM_001105577	NM_001105577		Approved		uc010aan.1	uc010aan.1	A6NGE7	A6NGE7	OTTHUMG00000186217	OTTHUMG00000186217	ENST00000332715.5:c.18C>T	13.37:g.28562757G>A				p.V6V	NM_001105577.1	NP_001099047.1					1	34	-						Silent	SNP	ENST00000332715.5	37	c.18C>T	CCDS45020.1																																																																																									0.537	URAD-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472432.1		99.730906	-16	-16	72	72			34	100.474889	100.474889	51	0.400000	0	0	0	1	0	34	51	0.4
NXPH3	11248	broad.mit.edu	37	17	47656053	47656053	+	Silent	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:47656053G>A	ENST00000328741.5	+	2	512	c.150G>A	c.(148-150)cgG>cgA	p.R50R	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.R50R	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	50	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTCGGAAGCGGGGCCACATCT	0.677																																						ENST00000328741.5											0			endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12						c.(148-150)cgG>cgA	neurexophilin 3						34.0	38.0	37.0					17																	47656053		2203	4298	6501	SO:0001819	synonymous_variant	11248			neuropeptide signaling pathway	extracellular region		g.chr17:47656053G>A	AF043468	AF043468	CCDS11550.1	CCDS11550.1	17q	2008-07-03			2008-07-03				ENSG00000182575		ENSG00000182575				8077	8077	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604636	604636						9570794	9570794	Standard	Standard	NM_007225	NM_007225		Approved	NPH3	uc002ipa.3	uc002ipa.3	O95157	O95157			ENST00000328741.5:c.150G>A	17.37:g.47656053G>A			NXPH3_ENST00000513748.1_Silent_p.R50R	p.R50R	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN			2	512	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		50	II.	Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	ENST00000328741.5	37	c.150G>A	CCDS11550.1																																																																																									0.677	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1		133.587680	-7	-7	55	55			43	134.032821	134.032821	31	0.581081	0	0	0	1	0	43	31	0.581081
PSEN2	5664	broad.mit.edu	37	1	227071592	227071592	+	Missense_Mutation	SNP	C	C	T	rs199808788		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:227071592C>T	ENST00000366783.3	+	5	764	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C|PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000366782.1_Missense_Mutation_p.R143C	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	110					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CAAGTCTGTGCGCTTCTACAC	0.602																																						ENST00000366782.1											0			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(427-429)Cgc>Tgc	presenilin 2 (Alzheimer disease 4)						97.0	88.0	91.0					1																	227071592		2203	4300	6503	SO:0001583	missense	5664			amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227071592C>T	BC006365	BC006365	CCDS1556.1, CCDS44324.1	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801	ENSG00000143801	ENSG00000143801				9509	9509	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600759	600759	"""Alzheimer disease 4"""	AD4	"""Alzheimer disease 4"""	AD4		7638621	7638621	Standard	Standard	NM_000447	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	uc009xeo.1	P49810	P49810	OTTHUMG00000037563	OTTHUMG00000037563	ENST00000366783.3:c.328C>T	1.37:g.227071592C>T	ENSP00000355747:p.Arg110Cys		PSEN2_ENST00000366783.3_Missense_Mutation_p.R110C|PSEN2_ENST00000422240.2_Missense_Mutation_p.R110C|PSEN2_ENST00000340188.4_Missense_Mutation_p.R110C|PSEN2_ENST00000391872.2_Missense_Mutation_p.R143C	p.R143C			P49810	PSN2_HUMAN			5	927	+		Prostate(94;0.0771)	110		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.427C>T	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143501	0.77888	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	D;D;D;D;D;D	0.99537	-6.11;-6.11;-6.11;-6.11;-6.11;-6.11	5.49	4.55	0.56014	5.49	4.55	0.56014	.	0.043981	0.85682	D	0.000000	D	0.99205	0.9724	L	0.48642	1.525	0.54753	D	0.999989	D;D	0.69078	0.997;0.997	P;P	0.61658	0.892;0.892	D	0.99010	1.0814	10	0.72032	D	0.01	.	13.1833	0.59668	0.2903:0.7097:0.0:0.0	.	110;110	A8K8D4;P49810	.;PSN2_HUMAN	C	110;110;110;110;143;143	ENSP00000355747:R110C;ENSP00000339860:R110C;ENSP00000429682:R110C;ENSP00000403737:R110C;ENSP00000355746:R143C;ENSP00000375745:R143C	ENSP00000339860:R110C	R	+	1	0	0	PSEN2	225138215	225138215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.474000	0.53129	1.274000	0.44362	0.650000	0.86243	CGC		0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1		-16.787620	-13	-13	83	83	NM_000447		4	7.43911	7.439110	101	0.038095	0	0	0	1	0	4	101	0.038095
RBM12	10137	broad.mit.edu	37	20	34241273	34241273	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr20:34241273G>T	ENST00000374114.3	-	3	2235	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P658T|RBM12_ENST00000359646.1_Missense_Mutation_p.P658T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	658	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCACACCGGGCAGTCCCGCA	0.582																																						ENST00000374114.3											0			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1972-1974)Ccc>Acc	RNA binding motif protein 12						37.0	39.0	38.0					20																	34241273		2203	4300	6503	SO:0001583	missense	10137				nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241273G>T	AJ289772	AJ289772	CCDS13261.1	CCDS13261.1	20q11.21	2013-02-12			2013-02-12			ENSG00000244462	ENSG00000244462	ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	9898	9898	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607179	607179						11435693	11435693	Standard	Standard	NM_006047	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	uc021wcq.1	Q9NTZ6	Q9NTZ6	OTTHUMG00000032350	OTTHUMG00000032350	ENST00000374114.3:c.1972C>A	20.37:g.34241273G>T	ENSP00000363228:p.Pro658Thr		CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P658T|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P658T|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron	p.P658T	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2235	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		658	Gly-rich.|Pro-rich.	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.1972C>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156482	0.38119	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.19938	2.11;2.11;2.11	4.21	3.25	0.37280	4.21	3.25	0.37280	.	0.000000	0.37669	N	0.001982	T	0.13756	0.0333	N	0.19112	0.55	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.06954	-1.0798	10	0.30854	T	0.27	-2.3869	12.9934	0.58634	0.0:0.0:0.8366:0.1634	.	658	Q9NTZ6	RBM12_HUMAN	T	658;658;658;457	ENSP00000363228:P658T;ENSP00000352668:P658T;ENSP00000363217:P658T	ENSP00000339879:P457T	P	-	1	0	0	RBM12	33704687	33704687	1.000000	0.71417	0.925000	0.36789	0.026000	0.11368	4.663000	0.61532	1.333000	0.45449	-0.241000	0.12123	CCC		0.582	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1		59.514582	-12	-12	64	64	NM_006047		21	60.679677	60.679677	39	0.350000	1	0	4.35082e-09	1	4.89467e-09	21	39	0.35
PDE3A	5139	broad.mit.edu	37	12	20766410	20766410	+	Missense_Mutation	SNP	G	G	A	rs150253039		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr12:20766410G>A	ENST00000359062.3	+	3	1085	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	349					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.V349I(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACATCGCCGTCATGGGCGA	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18125	0.0		0.0	False		,,,				2504	0.0					ENST00000359062.3											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1045-1047)Gtc>Atc	phosphodiesterase 3A, cGMP-inhibited	G	ILE/VAL	7,4399	12.9+/-30.5	0,7,2196	94.0	85.0	88.0		1045	5.9	1.0	12	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PDE3A	NM_000921.4	29	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	probably-damaging	349/1142	20766410	8,12998	2203	4300	6503	SO:0001583	missense	5139			lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766410G>A			CCDS31754.1	CCDS31754.1	12p12.2	2011-04-15			2011-04-15			ENSG00000172572	ENSG00000172572	ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	"""Phosphodiesterases"""	8778	8778	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123805	123805						1315035, 10679291	1315035, 10679291	Standard	Standard	NM_000921	NM_000921		Approved	CGI-PDE	uc001reh.2	uc001reh.2	Q14432	Q14432	OTTHUMG00000168962	OTTHUMG00000168962	ENST00000359062.3:c.1045G>A	12.37:g.20766410G>A	ENSP00000351957:p.Val349Ile		PDE3A_ENST00000544307.1_3'UTR	p.V349I	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			3	1085	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	349		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1045G>A	CCDS31754.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.0	4.967825	0.92855	0.001589	1.16E-4	ENSG00000172572	ENST00000359062	T	0.55413	0.52	5.86	5.86	0.93980	5.86	5.86	0.93980	.	3.182960	0.00541	N	0.000228	T	0.78916	0.4359	M	0.71206	2.165	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	T	0.62627	-0.6814	10	0.51188	T	0.08	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	349	Q14432	PDE3A_HUMAN	I	349	ENSP00000351957:V349I	ENSP00000351957:V349I	V	+	1	0	0	PDE3A	20657677	20657677	1.000000	0.71417	0.991000	0.47740	0.671000	0.39405	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GTC		0.517	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		-9.364453	-24	-24	56	56			4	6.990393	6.990393	73	0.051948	0	0	0	1	0	4	73	0.051948
MMP20	9313	broad.mit.edu	37	11	102487572	102487572	+	Silent	SNP	G	G	C			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr11:102487572G>C	ENST00000260228.2	-	2	357	c.345C>G	c.(343-345)ccC>ccG	p.P115P	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	113					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P115P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	TTTTCCATTTGGGTTCACCAG	0.418																																						ENST00000260228.2											1	Substitution - coding silent(1)	lung(1)	endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(343-345)ccC>ccG	matrix metallopeptidase 20						96.0	85.0	89.0					11																	102487572		2203	4299	6502	SO:0001819	synonymous_variant	9313			proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102487572G>C	Y12779	Y12779	CCDS8318.1	CCDS8318.1	11q22.3	2008-05-22	2008-05-22		2008-05-22	2008-05-22			ENSG00000137674		ENSG00000137674				7167	7167	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""enamelysin"""	"""enamelysin"""	604629	604629	"""matrix metalloproteinase 20 (enamelysin)"""		"""matrix metalloproteinase 20 (enamelysin)"""			9398237	9398237	Standard	Standard	NM_004771	NM_004771		Approved		uc001phc.3	uc001phc.3	O60882	O60882			ENST00000260228.2:c.345C>G	11.37:g.102487572G>C			RP11-817J15.2_ENST00000542119.1_RNA	p.P115P	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	2	357	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	115		D3DUA8|Q9H3Q0	Silent	SNP	ENST00000260228.2	37	c.345C>G	CCDS8318.1																																																																																									0.418	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1		53.336514	-11	-11	35	35			18	53.470444	53.470444	23	0.439024	0	0	0	1	0	18	23	0.439024
SOST	50964	broad.mit.edu	37	17	41835968	41835968	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:41835968G>A	ENST00000301691.2	-	1	188	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	48					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TCCAGCTCCGGTGGAGGCTCG	0.607																																						ENST00000301691.2											0			large_intestine(2)|lung(3)|prostate(1)	6						c.(142-144)Ccg>Tcg	sclerostin						64.0	61.0	62.0					17																	41835968		2203	4300	6503	SO:0001583	missense	50964			negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41835968G>A	AF326736	AF326736	CCDS11468.1	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28		2014-06-28	2010-04-28			ENSG00000167941		ENSG00000167941				13771	13771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605740	605740	"""sclerosteosis"""		"""sclerosteosis"""			11179006, 11181578	11179006, 11181578	Standard	Standard	NM_025237	NM_025237		Approved	VBCH	uc002iec.1	uc002iec.1	Q9BQB4	Q9BQB4			ENST00000301691.2:c.142C>T	17.37:g.41835968G>A	ENSP00000301691:p.Pro48Ser			p.P48S	NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	1	188	-		Breast(137;0.00725)	48		Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.142C>T	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	G	6.657	0.489703	0.12702	.	.	ENSG00000167941	ENST00000301691	T	0.75821	-0.97	4.26	4.26	0.50523	4.26	4.26	0.50523	.	1.314110	0.04876	N	0.446883	T	0.56093	0.1962	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.48670	-0.9015	10	0.07325	T	0.83	-24.0754	7.3891	0.26899	0.0:0.1837:0.6264:0.1899	.	48	Q9BQB4	SOST_HUMAN	S	48	ENSP00000301691:P48S	ENSP00000301691:P48S	P	-	1	0	0	SOST	39191494	39191494	0.244000	0.23889	0.008000	0.14137	0.972000	0.66771	1.235000	0.32671	2.207000	0.71202	0.555000	0.69702	CCG		0.607	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1		93.957856	-27	-27	64	64	NM_025237		33	94.564953	94.564953	48	0.407407	0	0	0	1	0	33	48	0.407407
GPATCH8	23131	broad.mit.edu	37	17	42477396	42477396	+	Silent	SNP	T	T	C			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:42477396T>C	ENST00000591680.1	-	8	2079	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	GPATCH8_ENST00000434000.1_Silent_p.K605K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	683	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTTTGCTGGATTTTTTGTGCT	0.463																																						ENST00000434000.1											0			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1813-1815)aaA>aaG	G patch domain containing 8						216.0	217.0	217.0					17																	42477396		2203	4300	6503	SO:0001819	synonymous_variant	23131				intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477396T>C	AB011125	AB011125	CCDS32666.1	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	"""G patch domain containing"""	29066	29066	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614396	614396	"""KIAA0553"""	KIAA0553, GPATC8	"""KIAA0553"""	KIAA0553, GPATC8		9628581	9628581	Standard	Standard	NM_001002909	NM_001002909		Approved		uc002igw.2	uc002igw.2	Q9UKJ3	Q9UKJ3	OTTHUMG00000181818	OTTHUMG00000181818	ENST00000591680.1:c.2049A>G	17.37:g.42477396T>C			GPATCH8_ENST00000591680.1_Silent_p.K683K	p.K605K			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2097	-		Prostate(33;0.0181)	683		B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.1815A>G	CCDS32666.1																																																																																									0.463	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1		237.151242	-57	-57	168	168	NM_001002909		73	237.832328	237.832328	96	0.431953	0	0	0	1	0	73	96	0.431953
OBSCN	84033	ucsc.edu	37	1	228521350	228521350	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr1:228521350G>A	ENST00000422127.1	+	59	15967	c.15923G>A	c.(15922-15924)cGc>cAc	p.R5308H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2942H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6265H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5308H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2427H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5308	Ig-like 50.				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)				GCCCACATCCGCATGACTGAC	0.592																																																	0																	55.0	60.0	58.0					1																	228521350		2115	4229	6344	SO:0001583	missense	84033							AJ002535	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			2014-09-17			ENSG00000154358	ENSG00000154358	ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	15719	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608616	608616						11448995, 11814696	11448995, 11814696	Standard	Standard	NM_001098623	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	uc001hsq.2	Q5VST9	Q5VST9	OTTHUMG00000039772	OTTHUMG00000039772	ENST00000422127.1:c.15923G>A	1.37:g.228521350G>A	ENSP00000409493:p.Arg5308His																	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37		CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	9.944	1.218310	0.22373	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.86	-1.45	0.08828	5.86	-1.45	0.08828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.470562	0.20918	N	0.083335	T	0.38348	0.1037	N	0.16862	0.45	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.12630	-1.0540	10	0.15066	T	0.55	.	3.6812	0.08310	0.2763:0.0764:0.4946:0.1527	.	5308;5308	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5308;5308;2942;2427	ENSP00000284548:R5308H;ENSP00000409493:R5308H;ENSP00000355668:R2942H;ENSP00000355670:R2427H	ENSP00000284548:R5308H	R	+	2	0	0	OBSCN	226587973	226587973	0.476000	0.25901	0.018000	0.16275	0.001000	0.01503	0.848000	0.27710	-0.326000	0.08564	-2.034000	0.00421	CGC		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				-5	-5	16	16	NM_052843		4			13							4	13	
MCM5	4174	broad.mit.edu	37	22	35811891	35811891	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:35811891C>T	ENST00000216122.4	+	10	1427	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R382W	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	425	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCCTTCGTCCCGGAATTTCAT	0.592																																						ENST00000216122.4											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1273-1275)Cgg>Tgg	minichromosome maintenance complex component 5						191.0	196.0	195.0					22																	35811891		2203	4300	6503	SO:0001583	missense	4174			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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35811891C>T			CCDS13915.1	CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297	ENSG00000100297	ENSG00000100297				6948	6948	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602696	602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	8751386, 10591208	Standard	Standard	NM_006739	NM_006739		Approved		uc003anu.4	uc003anu.4	P33992	P33992	OTTHUMG00000150961	OTTHUMG00000150961	ENST00000216122.4:c.1273C>T	22.37:g.35811891C>T	ENSP00000216122:p.Arg425Trp		MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R382W	p.R425W	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			10	1427	+			425	MCM.	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1273C>T	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837041	0.91117	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.14266	2.52;2.52	5.66	4.61	0.57282	5.66	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	H	0.95365	3.66	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	0.62374	-0.6868	10	0.87932	D	0	-25.6682	11.9707	0.53062	0.1441:0.7322:0.1237:0.0	.	425;425;382;425	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	W	425;382;334	ENSP00000216122:R425W;ENSP00000371441:R382W	ENSP00000216122:R425W	R	+	1	2	2	MCM5	34141891	34141891	0.803000	0.28956	0.998000	0.56505	0.948000	0.59901	1.567000	0.36407	1.342000	0.45619	0.655000	0.94253	CGG		0.592	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		321.444072	-13	-13	199	199			105	322.837172	322.837172	145	0.420000	0	0	0	1	0	105	145	0.42
MAPK8IP2	23542	broad.mit.edu	37	22	51040256	51040256	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:51040256A>C	ENST00000329492.3	+	2	221	c.104A>C	c.(103-105)gAa>gCa	p.E35A	MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000399908.2_5'Flank|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000008876.5_5'Flank|CHKB_ENST00000463053.1_5'Flank	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	35	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTGACGACGAAGATCTGTCT	0.577																																						ENST00000329492.3											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(103-105)gAa>gCa	mitogen-activated protein kinase 8 interacting protein 2						96.0	100.0	99.0					22																	51040256		1976	4147	6123	SO:0001583	missense	23542			behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51040256A>C	AL021708	AL021708	CCDS74886.1	CCDS74886.1	22q13.33	2010-04-06			2010-04-06			ENSG00000008735	ENSG00000008735	ENSG00000008735	ENSG00000008735				6883	6883	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	10490659	Standard	Standard	NM_012324	NM_012324		Approved	IB2, JIP2	uc003bmy.3	uc003bmy.3	Q13387	Q13387	OTTHUMG00000150181	OTTHUMG00000150181	ENST00000329492.3:c.104A>C	22.37:g.51040256A>C	ENSP00000330572:p.Glu35Ala		MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E35A|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.E35A	p.E35A	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	221	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	35	Asp/Glu-rich (acidic).	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37	c.104A>C		.	.	.	.	.	.	.	.	.	.	A	25.9	4.683478	0.88639	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000341339	T;T;T	0.69561	0.07;-0.41;0.55	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.062043	0.64402	D	0.000007	T	0.78830	0.4345	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81169	-0.1055	10	0.87932	D	0	.	12.2634	0.54663	1.0:0.0:0.0:0.0	.	35	Q13387	JIP2_HUMAN	A	35	ENSP00000330572:E35A;ENSP00000404914:E35A;ENSP00000340015:E35A	ENSP00000330572:E35A	E	+	2	0	0	MAPK8IP2	49387122	49387122	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	9.101000	0.94219	1.776000	0.52262	0.414000	0.27820	GAA		0.577	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			51.226052	-29	-29	64	64	NM_012324		18	54.134578	54.134578	47	0.276923	0	0	0	1	0	18	47	0.276923
SKA3	221150	broad.mit.edu	37	13	21746793	21746793	+	Nonsense_Mutation	SNP	A	A	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr13:21746793A>T	ENST00000314759.5	-	2	255	c.131T>A	c.(130-132)tTa>tAa	p.L44*	SKA3_ENST00000400018.3_Nonsense_Mutation_p.L44*	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	44					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGGTCATATAAAATTCTCAT	0.279																																						ENST00000314759.5											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(130-132)tTa>tAa	spindle and kinetochore associated complex subunit 3						31.0	31.0	31.0					13																	21746793		2189	4267	6456	SO:0001587	stop_gained	221150			cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21746793A>T	AF361358	AF361358	CCDS31946.1, CCDS53856.1	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480	ENSG00000165480	ENSG00000165480				20262	20262	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 13 open reading frame 3"""	C13orf3	"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	19387489, 19289083, 19646878, 19360002	Standard	Standard	NM_145061	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	uc001unt.3	Q8IX90	Q8IX90	OTTHUMG00000016539	OTTHUMG00000016539	ENST00000314759.5:c.131T>A	13.37:g.21746793A>T	ENSP00000319417:p.Leu44*		SKA3_ENST00000400018.3_Nonsense_Mutation_p.L44*	p.L44*	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN			2	255	-			44		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Nonsense_Mutation	SNP	ENST00000314759.5	37	c.131T>A	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	A	37	6.110145	0.97291	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.81	5.81	0.92471	5.81	5.81	0.92471	.	0.248786	0.34959	N	0.003558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9471	14.3871	0.66953	1.0:0.0:0.0:0.0	.	.	.	.	X	44	.	ENSP00000319417:L44X	L	-	2	0	0	SKA3	20644793	20644793	1.000000	0.71417	0.942000	0.38095	0.772000	0.43724	5.564000	0.67359	2.220000	0.72140	0.482000	0.46254	TTA		0.279	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1		19.218310	-6	-6	17	17	NM_145061		7	19.734768	19.734768	14	0.333333	0	0	0	1	0	7	14	0.333333
RND2	8153	broad.mit.edu	37	17	41180481	41180481	+	Silent	SNP	G	G	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr17:41180481G>T	ENST00000587250.2	+	5	575	c.468G>T	c.(466-468)gtG>gtT	p.V156V	RND2_ENST00000544533.1_Silent_p.V157V|CTD-3199J23.4_ENST00000225973.5_lincRNA			P52198	RND2_HUMAN	Rho family GTPase 2	156					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGGGCTGTGTCCTATGTTG	0.587																																						ENST00000544533.1											0			large_intestine(1)|skin(1)	2						c.(469-471)gtG>gtT	Rho family GTPase 2						92.0	87.0	88.0					17																	41180481		2203	4300	6503	SO:0001819	synonymous_variant	8153			small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity	g.chr17:41180481G>T	X95456	X95456	CCDS11452.1	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830	ENSG00000108830	ENSG00000108830				18315	18315	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601555	601555	"""ras homolog gene family, member N"""	ARHN	"""ras homolog gene family, member N"""	ARHN				Standard	Standard	XM_005257706	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	uc002icn.3	P52198	P52198	OTTHUMG00000180817	OTTHUMG00000180817	ENST00000587250.2:c.468G>T	17.37:g.41180481G>T			RND2_ENST00000587250.2_Silent_p.V156V	p.V157V	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	5	578	+		Breast(137;0.000717)	156		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Silent	SNP	ENST00000587250.2	37	c.471G>T	CCDS11452.1																																																																																									0.587	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453111.2		76.635335	-55	-55	64	64	NM_005440		26	77.370722	77.370722	41	0.388060	1	0	5.8336e-16	1	7.15942e-16	26	41	0.38806
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	625					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R625L(9)|p.R625P(2)|p.R625H(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438			Mis		myelodysplastic syndrome																																	ENST00000335508.6		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(8)|urinary_tract(1)|salivary_gland(1)|central_nervous_system(1)|skin(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1873-1875)cGt>cAt	splicing factor 3b, subunit 1, 155kDa						95.0	92.0	93.0					2																	198267483		2203	4300	6503	SO:0001583	missense	23451			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267483C>T	AF054284	AF054284	CCDS33356.1, CCDS46479.1	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524	ENSG00000115524	ENSG00000115524				10768	10768	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605590	605590	"""splicing factor 3b, subunit 1, 155kD"""		"""splicing factor 3b, subunit 1, 155kD"""			9585501	9585501	Standard	Standard	XM_005246428	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	uc002uue.3	O75533	O75533	OTTHUMG00000154447	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His			p.R625H	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1965	-					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1874G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	0	SF3B1	197975728	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT		0.438	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		69.514775	-11	-11	44	44			23	69.904678	69.904678	33	0.410714	0	0	0	1	0	23	33	0.410714
LRRC37A6P	387646	broad.mit.edu	37	10	27535505	27535505	+	lincRNA	SNP	G	G	A	rs558881429		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr10:27535505G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCACTGGTCCGTATCCCATTC	0.483																																						ENST00000574842.1											0																																																0						g.chr10:27535505G>A																																																		10.37:g.27535505G>A											0	255	+						RNA	SNP	ENST00000574842.1	37																																																																																											0.483	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1		53.742554	-17	-17	89	89			18	54.399248	54.399248	30	0.375000	0	0	0	1	0	18	30	0.375
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		81.651164	-12	-12	69	69	NM_002067		26	81.66855	81.668550	24	0.520000	0	0	0	1	0	26	24	0.52
PPP6R2	9701	broad.mit.edu	37	22	50874821	50874822	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr22:50874821_50874822delCT	ENST00000216061.5	+	15	1912_1913	c.1542_1543delCT	c.(1540-1545)cgctggfs	p.W515fs	PPP6R2_ENST00000359139.3_Frame_Shift_Del_p.W515fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.W516fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.W515fs			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	515						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						GCCGTGGCCGCTGGGAGAGCTT	0.703																																						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.(1540-1545)cgctggfs	protein phosphatase 6, regulatory subunit 2																																			SO:0001589	frameshift_variant	9701				cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50874821_50874822delCT	AB014585	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	19253	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610877	610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	16769727	Standard	Standard	NM_014678	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	uc003blc.3	O75170	O75170	OTTHUMG00000150199	OTTHUMG00000150199	ENST00000216061.5:c.1542_1543delCT	22.37:g.50874821_50874822delCT	ENSP00000216061:p.Trp515fs		PPP6R2_ENST00000216061.5_Frame_Shift_Del_p.W515fs|PPP6R2_ENST00000395744.3_Frame_Shift_Del_p.W515fs|PPP6R2_ENST00000395741.3_Frame_Shift_Del_p.W516fs	p.W515fs	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			14	1936_1937	+			515		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Frame_Shift_Del	DEL	ENST00000216061.5	37	c.1542_1543delCT																																																																																										0.703	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	.	.	-8	-8	4	4	NM_014678		2			4	0.33						2	4	0.33
KIAA0556	23247	broad.mit.edu	37	16	27642480	27642480	+	Frame_Shift_Del	DEL	C	C	-	rs138512782		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr16:27642480delC	ENST00000261588.4	+	5	424	c.405delC	c.(403-405)cacfs	p.H135fs		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	135						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAGGATGGCACCAGGTCTGGA	0.527																																						ENST00000261588.4											0			breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(403-405)cacfs	KIAA0556						28.0	24.0	25.0					16																	27642480		2195	4294	6489	SO:0001589	frameshift_variant	23247						g.chr16:27642480delC	AB011128	AB011128	CCDS32415.1	CCDS32415.1	16p12.1-p11.2	2012-11-30			2012-11-30			ENSG00000047578	ENSG00000047578	ENSG00000047578	ENSG00000047578				29068	29068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9628581	9628581	Standard	Standard	NM_015202	NM_015202		Approved		uc002dow.3	uc002dow.3	O60303	O60303	OTTHUMG00000176780	OTTHUMG00000176780	ENST00000261588.4:c.405delC	16.37:g.27642480delC	ENSP00000261588:p.His135fs			p.H135fs	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			5	424	+			135		A7E2C2	Frame_Shift_Del	DEL	ENST00000261588.4	37	c.405delC	CCDS32415.1																																																																																									0.527	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	.	.	7	7	9	9	NM_015202		2			4	0.33						2	4	0.33
SLC12A9	56996	broad.mit.edu	37	7	100460341	100460342	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	g.chr7:100460341_100460342insT	ENST00000354161.3	+	13	1875_1876	c.1750_1751insT	c.(1750-1752)gcafs	p.A584fs	SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A584fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A584fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	584					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCAGTATGGGGCATGGCTCAGC	0.574																																						ENST00000354161.3											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1750-1752)gcafs	solute carrier family 12, member 9																																			SO:0001589	frameshift_variant	56996				integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100460341_100460342insT	AF284422	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828	ENSG00000146828	ENSG00000146828		"""Solute carriers"""	"""Solute carriers"""	17435	17435	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""	"""cation-chloride cotransporter-interacting protein"""								10871601, 11239002	10871601, 11239002	Standard	Standard	NM_020246	NM_020246		Approved	CIP1	uc003uwp.4	uc003uwp.4	Q9BXP2	Q9BXP2	OTTHUMG00000156045	OTTHUMG00000156045	Exception_encountered	7.37:g.100460341_100460342insT	ENSP00000275730:p.Ala584fs		SLC12A9_ENST00000415287.1_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000275729.3_Frame_Shift_Ins_p.A495fs|SLC12A9_ENST00000540482.1_Frame_Shift_Ins_p.A584fs|SLC12A9_ENST00000428758.1_Frame_Shift_Ins_p.A584fs	p.A584fs	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			13	1875_1876	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		584		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Frame_Shift_Ins	INS	ENST00000354161.3	37	c.1750_1751insT	CCDS5707.1																																																																																									0.574	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	.	.	0	0	70	70	NM_020246		19			44	0.30						19	44	0.3
