#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
ANKK1	255239	broad.mit.edu	37	11	113270063	113270063	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:113270063G>T	ENST00000303941.3	+	8	1466	c.1372G>T	c.(1372-1374)Gaa>Taa	p.E458*		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	458							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GGATGCCCAGGAACGTGAAGG	0.617																																						ENST00000303941.3											0			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1372-1374)Gaa>Taa	ankyrin repeat and kinase domain containing 1						19.0	22.0	21.0					11																	113270063		2100	4217	6317	SO:0001587	stop_gained	255239					ATP binding|protein serine/threonine kinase activity	g.chr11:113270063G>T	AJ541797	AJ541797	CCDS44734.1	CCDS44734.1	11q23.2	2013-01-10			2013-01-10			ENSG00000170209	ENSG00000170209	ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	21027	21027	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608774	608774						15146457	15146457	Standard	Standard	NM_178510	NM_178510		Approved	X-kinase	uc001pny.3	uc001pny.3	Q8NFD2	Q8NFD2	OTTHUMG00000167715	OTTHUMG00000167715	ENST00000303941.3:c.1372G>T	11.37:g.113270063G>T	ENSP00000306678:p.Glu458*			p.E458*	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1466	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	458			Nonsense_Mutation	SNP	ENST00000303941.3	37	c.1372G>T	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978195	0.74360	.	.	ENSG00000170209	ENST00000303941	.	.	.	4.83	4.83	0.62350	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-31.0765	17.083	0.86603	0.0:0.0:1.0:0.0	.	.	.	.	X	458	.	ENSP00000306678:E458X	E	+	1	0	0	ANKK1	112775273	112775273	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.465000	0.80898	2.498000	0.84270	0.557000	0.71058	GAA		0.617	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1		11.198050	0	0	10	10	NM_178510		4	11.222342	11.222342	5	0.444444	1	0	0.014758	1	0.0161635	4	5	0.444444
SOX14	8403	broad.mit.edu	37	3	137484271	137484271	+	Silent	SNP	C	C	G			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:137484271C>G	ENST00000306087.1	+	1	693	c.645C>G	c.(643-645)ccC>ccG	p.P215P		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	215					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						TGCAGCCCCCCGTCGCCTACA	0.662																																						ENST00000306087.1											0			large_intestine(2)|lung(12)	14						c.(643-645)ccC>ccG	SRY (sex determining region Y)-box 14						45.0	34.0	38.0					3																	137484271		2202	4293	6495	SO:0001819	synonymous_variant	8403			negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484271C>G	AJ006230	AJ006230	CCDS3094.1	CCDS3094.1	3q22-q23	2008-07-18			2008-07-18			ENSG00000168875	ENSG00000168875	ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	"""SRY (sex determining region Y)-boxes"""	11193	11193	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747	604747						9925951	9925951	Standard	Standard	NM_004189	NM_004189		Approved	SOX28	uc003erm.2	uc003erm.2	O95416	O95416	OTTHUMG00000159757	OTTHUMG00000159757	ENST00000306087.1:c.645C>G	3.37:g.137484271C>G				p.P215P	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	693	+			215		B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.645C>G	CCDS3094.1																																																																																									0.662	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1		28.978313	1	1	42	42	NM_004189		9	29.229943	29.229943	5	0.642857	0	0	0	1	0	9	5	0.642857
MUC16	94025	broad.mit.edu	37	19	9018559	9018559	+	Missense_Mutation	SNP	C	C	A	rs569488503		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:9018559C>A	ENST00000397910.4	-	24	37818	c.37615G>T	c.(37615-37617)Gct>Tct	p.A12539S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12541	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGGCCAGCAGCTGTAGTG	0.428																																						ENST00000397910.4											0			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37615-37617)Gct>Tct	mucin 16, cell surface associated						195.0	167.0	176.0					19																	9018559		1923	4138	6061	SO:0001583	missense	94025			cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9018559C>A	AF414442	AF414442	CCDS54212.1	CCDS54212.1	19p13.2	2008-02-05	2006-03-14		2008-02-05	2006-03-14			ENSG00000181143		ENSG00000181143		"""Mucins"""	"""Mucins"""	15582	15582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606154	606154						11369781	11369781	Standard	Standard	XM_006722941	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	uc002mkp.3	Q8WXI7	Q8WXI7			ENST00000397910.4:c.37615G>T	19.37:g.9018559C>A	ENSP00000381008:p.Ala12539Ser			p.A12539S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			24	37818	-			12541	SEA 4.	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37615G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.353	0.623202	0.14193	.	.	ENSG00000181143	ENST00000397910	T	0.33438	1.41	2.01	-0.421	0.12332	2.01	-0.421	0.12332	.	.	.	.	.	T	0.19765	0.0475	L	0.50333	1.59	.	.	.	P	0.35481	0.504	B	0.24394	0.053	T	0.20306	-1.0279	8	0.87932	D	0	.	3.0904	0.06291	0.0:0.4941:0.3105:0.1954	.	12539	B5ME49	.	S	12539	ENSP00000381008:A12539S	ENSP00000381008:A12539S	A	-	1	0	0	MUC16	8879559	8879559	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	-4.880000	0.00174	-0.025000	0.13918	0.195000	0.17529	GCT		0.428	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		-12.180623	-26	-26	129	129	NM_024690		4	7.808796	7.808796	86	0.044444	1	0	0.014758	1	0.0161635	4	86	0.044444
CSMD1	64478	broad.mit.edu	37	8	3263679	3263679	+	Silent	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:3263679C>T	ENST00000520002.1	-	16	2694	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R|CSMD1_ENST00000602557.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000400186.3_Silent_p.R713R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	713	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGAGTAGAAACCTGTCACCAA	0.453																																						ENST00000602557.1											0			breast(20)|large_intestine(5)	25						c.(2137-2139)agG>agA	CUB and Sushi multiple domains 1						48.0	49.0	49.0					8																	3263679		1886	4120	6006	SO:0001819	synonymous_variant	64478				integral to membrane		g.chr8:3263679C>T					8p23.2	2012-04-17			2012-04-17			ENSG00000183117	ENSG00000183117	ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	14026	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	"""protein phosphatase 1, regulatory subunit 24"""	608397	608397								Standard	Standard	NM_033225	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	uc022aqr.1	Q96PZ7	Q96PZ7	OTTHUMG00000163605	OTTHUMG00000163605	ENST00000520002.1:c.2139G>A	8.37:g.3263679C>T			CSMD1_ENST00000520002.1_Silent_p.R713R|CSMD1_ENST00000537824.1_Silent_p.R712R|CSMD1_ENST00000602723.1_Silent_p.R713R|CSMD1_ENST00000400186.3_Silent_p.R713R|CSMD1_ENST00000539096.1_Silent_p.R712R|CSMD1_ENST00000542608.1_Silent_p.R712R	p.R713R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2694	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	713	Sushi 4.	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2139G>A		.	.	.	.	.	.	.	.	.	.	C	0.402	-0.917671	0.02396	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.46	2.26	0.28386	5.46	2.26	0.28386	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.41946	D	0.990636	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	.	7.148	0.25593	0.1187:0.6047:0.0:0.2767	.	.	.	.	I	193	.	.	V	-	1	0	0	CSMD1	3251086	3251086	0.217000	0.23597	0.883000	0.34634	0.018000	0.09664	-0.404000	0.07205	0.675000	0.31264	-0.126000	0.14955	GTT		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		19.115391	-3	-3	18	18	NM_033225		5	19.084596	19.084596	0	1.000000	0	0	0	1	0	5	0	1.0
NMRK2	27231	broad.mit.edu	37	19	3941074	3941074	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3941074G>A	ENST00000168977.2	+	7	691	c.401G>A	c.(400-402)cGc>cAc	p.R134H	NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Missense_Mutation_p.R139H	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	134					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										TGCAGTACCCGCAACTACACA	0.577																																						ENST00000168977.2											0										c.(400-402)cGc>cAc	nicotinamide riboside kinase 2						153.0	130.0	138.0					19																	3941074		2203	4300	6503	SO:0001583	missense	27231						g.chr19:3941074G>A	AF190819	AF190819	CCDS12115.1, CCDS74259.1	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009	ENSG00000077009	ENSG00000077009				17871	17871	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	10613898, 15137942	Standard	Standard	NM_170678	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	uc002lyz.4	Q9NPI5	Q9NPI5	OTTHUMG00000181758	OTTHUMG00000181758	ENST00000168977.2:c.401G>A	19.37:g.3941074G>A	ENSP00000168977:p.Arg134His		NMRK2_ENST00000599576.1_Intron|NMRK2_ENST00000593949.1_Missense_Mutation_p.R139H	p.R134H	NM_170678.2	NP_733778.1					7	691	+					B7ZKR3|Q52M81|Q9NZK3	Missense_Mutation	SNP	ENST00000168977.2	37	c.401G>A	CCDS12115.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615742	0.66672	.	.	ENSG00000077009	ENST00000168977	T	0.65916	-0.18	3.51	2.47	0.30058	3.51	2.47	0.30058	.	0.891815	0.09184	U	0.837061	T	0.80465	0.4628	M	0.92507	3.315	0.48975	D	0.999733	D;D	0.89917	1.0;0.97	P;P	0.61132	0.884;0.502	T	0.76908	-0.2785	10	0.87932	D	0	-20.1072	8.4184	0.32685	0.1197:0.0:0.8803:0.0	.	139;134	B7ZKR3;Q9NPI5	.;NRK2_HUMAN	H	134	ENSP00000168977:R134H	ENSP00000168977:R134H	R	+	2	0	0	ITGB1BP3	3892074	3892074	0.999000	0.42202	0.008000	0.14137	0.001000	0.01503	8.047000	0.89440	0.691000	0.31592	-0.218000	0.12543	CGC		0.577	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1		-7.654894	1	1	101	101	NM_014446, NM_170678		4	8.408052	8.408052	72	0.052632	0	0	0	1	0	4	72	0.052632
UPK1A	11045	broad.mit.edu	37	19	36164371	36164371	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:36164371A>T	ENST00000222275.2	+	4	392	c.392A>T	c.(391-393)cAg>cTg	p.Q131L	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	131					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCACCAAGCAGATGCTGACC	0.662																																						ENST00000222275.2											0			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(391-393)cAg>cTg	uroplakin 1A						51.0	48.0	49.0					19																	36164371		2203	4300	6503	SO:0001583	missense	11045			epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36164371A>T	AF085807	AF085807	CCDS12470.1, CCDS62640.1	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			2013-02-14			ENSG00000105668	ENSG00000105668	ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	"""Tetraspanins"""	12577	12577	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611557	611557						9846985, 10404304	9846985, 10404304	Standard	Standard	NM_007000	NM_007000		Approved	TSPAN21	uc002oaw.3	uc002oaw.3	O00322	O00322	OTTHUMG00000048115	OTTHUMG00000048115	ENST00000222275.2:c.392A>T	19.37:g.36164371A>T	ENSP00000222275:p.Gln131Leu		UPK1A_ENST00000379013.2_Missense_Mutation_p.Q131L	p.Q131L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	392	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		131		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.392A>T	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.828828	0.90955	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	D;D	0.86865	-2.18;-2.18	5.54	5.54	0.83059	5.54	5.54	0.83059	Tetraspanin, EC2 domain (1);	0.000000	0.64402	D	0.000001	D	0.90466	0.7014	M	0.65498	2.005	0.51012	D	0.999909	D;P	0.60575	0.988;0.951	P;P	0.56216	0.794;0.708	D	0.91301	0.5067	10	0.66056	D	0.02	0.466	13.6153	0.62103	1.0:0.0:0.0:0.0	.	131;131	O00322-2;O00322	.;UPK1A_HUMAN	L	131	ENSP00000222275:Q131L;ENSP00000368298:Q131L	ENSP00000222275:Q131L	Q	+	2	0	0	UPK1A	40856211	40856211	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.345000	0.72995	2.103000	0.63969	0.533000	0.62120	CAG		0.662	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3		42.037790	0	0	51	51			14	42.94831	42.948310	27	0.341463	0	0	0	1	0	14	27	0.341463
PAX7	5081	broad.mit.edu	37	1	19029758	19029758	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr1:19029758A>C	ENST00000375375.3	+	7	1721	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	PAX7_ENST00000420770.2_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	375					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTCCAACCACATGAACCCGGT	0.632			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2		Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(1123-1125)Atg>Ctg	paired box 7						54.0	55.0	55.0					1																	19029758		2203	4300	6503	SO:0001583	missense	5081			anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19029758A>C	X96743	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709	ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	8621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			167410	167410	"""paired box gene 7"""		"""paired box gene 7"""			7981748, 8431641	7981748, 8431641	Standard	Standard	NM_001135254	NM_001135254		Approved	Hup1	uc001bay.3	uc001bay.3	P23759	P23759	OTTHUMG00000002433	OTTHUMG00000002433	ENST00000375375.3:c.1123A>C	1.37:g.19029758A>C	ENSP00000364524:p.Met375Leu		PAX7_ENST00000375375.3_Missense_Mutation_p.M375L|PAX7_ENST00000400661.3_Missense_Mutation_p.M373L	p.M375L	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	7	1206	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	375		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1123A>C	CCDS186.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717407	0.68844	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	T;T;T	0.80909	-1.43;-1.43;-1.43	5.41	5.41	0.78517	5.41	5.41	0.78517	.	2.593350	0.01163	N	0.006697	D	0.83834	0.5340	M	0.65498	2.005	0.58432	D	0.999996	B;B;B	0.32382	0.055;0.134;0.368	B;B;B	0.35114	0.032;0.067;0.196	T	0.61840	-0.6980	10	0.36615	T	0.2	.	14.5614	0.68140	1.0:0.0:0.0:0.0	.	375;373;375	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	L	375;375;373	ENSP00000364524:M375L;ENSP00000403389:M375L;ENSP00000383502:M373L	ENSP00000364524:M375L	M	+	1	0	0	PAX7	18902345	18902345	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.713000	0.91408	2.179000	0.69175	0.459000	0.35465	ATG		0.632	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1		38.492012	0	0	88	88	NM_002584		12	39.031532	39.031532	21	0.363636	0	0	0	1	0	12	21	0.363636
WDR75	84128	broad.mit.edu	37	2	190331249	190331249	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr2:190331249C>A	ENST00000314761.4	+	13	1448	c.1388C>A	c.(1387-1389)aCa>aAa	p.T463K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	463						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ACCTTGGTTACAGCTAGCAAA	0.338																																						ENST00000314761.4											0			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(1387-1389)aCa>aAa	WD repeat domain 75						108.0	110.0	110.0					2																	190331249		2203	4299	6502	SO:0001583	missense	84128				nucleolus		g.chr2:190331249C>A	AK091546	AK091546	CCDS2298.1	CCDS2298.1	2q32.2	2013-01-09			2013-01-09			ENSG00000115368	ENSG00000115368	ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	"""WD repeat domain containing"""	25725	25725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""								17699751	17699751	Standard	Standard	NM_032168	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	uc002uql.1	Q8IWA0	Q8IWA0	OTTHUMG00000132660	OTTHUMG00000132660	ENST00000314761.4:c.1388C>A	2.37:g.190331249C>A	ENSP00000314193:p.Thr463Lys			p.T463K	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		13	1448	+			463		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1388C>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793383	0.90453	.	.	ENSG00000115368	ENST00000314761	T	0.68181	-0.31	5.29	5.29	0.74685	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);	0.047591	0.85682	D	0.000000	T	0.82181	0.4981	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.986	D	0.83768	0.0218	10	0.87932	D	0	-19.1179	18.7417	0.91775	0.0:1.0:0.0:0.0	.	463;463	A8K330;Q8IWA0	.;WDR75_HUMAN	K	463	ENSP00000314193:T463K	ENSP00000314193:T463K	T	+	2	0	0	WDR75	190039494	190039494	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.531000	0.73820	2.752000	0.94435	0.655000	0.94253	ACA		0.338	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1		-2.915786	6	6	71	71	NM_032168		3	6.660141	6.660141	45	0.062500	1	0	1	1	1	3	45	0.0625
SGSM1	129049	broad.mit.edu	37	22	25246302	25246302	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr22:25246302A>T	ENST00000400359.4	+	5	365	c.358A>T	c.(358-360)Aac>Tac	p.N120Y	SGSM1_ENST00000400358.4_Missense_Mutation_p.N120Y	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	120	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAAGCTGCCCAACTTGTCCCC	0.483											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400358.4											0			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(358-360)Aac>Tac	small G protein signaling modulator 1						70.0	70.0	70.0					22																	25246302		1975	4157	6132	SO:0001583	missense	129049				Golgi apparatus	Rab GTPase activator activity	g.chr22:25246302A>T	AB075821	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	"""Small G protein signaling modulators"""	29410	29410	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611417	611417	"""RUN and TBC1 domain containing 2"""	RUTBC2	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	11853319, 17509819, 22637480	Standard	Standard	NM_133454	NM_133454		Approved	KIAA1941	uc003abg.2	uc003abg.2	Q2NKQ1	Q2NKQ1	OTTHUMG00000150837	OTTHUMG00000150837	ENST00000400359.4:c.358A>T	22.37:g.25246302A>T	ENSP00000383212:p.Asn120Tyr	777	SGSM1_ENST00000400359.4_Missense_Mutation_p.N120Y	p.N120Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			5	415	+			120	RUN.	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.358A>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238923	0.58995	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07800	3.16;3.16	4.83	4.83	0.62350	4.83	4.83	0.62350	RUN (2);	0.364205	0.37053	N	0.002268	T	0.17831	0.0428	M	0.63428	1.95	0.48762	D	0.999703	B;B;P;P;D	0.54047	0.226;0.268;0.955;0.484;0.964	B;P;P;P;P	0.54590	0.202;0.459;0.642;0.452;0.756	T	0.06356	-1.0831	10	0.17832	T	0.49	0.9439	13.905	0.63828	1.0:0.0:0.0:0.0	.	120;95;95;120;95	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	Y	95;120;120	ENSP00000383211:N120Y;ENSP00000383212:N120Y	ENSP00000383211:N120Y	N	+	1	0	0	SGSM1	23576302	23576302	1.000000	0.71417	0.995000	0.50966	0.245000	0.25701	7.253000	0.78320	1.949000	0.56562	0.477000	0.44152	AAC		0.483	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1		17.947618	0	0	20	20	XM_059318		6	18.009947	18.009947	8	0.428571	0	0	0	1	0	6	8	0.428571
MAPK8IP3	23162	ucsc.edu	37	16	1808152	1808152	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr16:1808152A>G	ENST00000250894.4	+	9	1374	c.1217A>G	c.(1216-1218)gAg>gGg	p.E406G	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E406G	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	406					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCGCCAGGGGAGTTCTCAGGT	0.567																																																	0																	106.0	111.0	109.0					16																	1808152		2025	4170	6195	SO:0001583	missense	23162							AB028989	AB028989	CCDS10442.2, CCDS45379.1	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			2009-11-23			ENSG00000138834	ENSG00000138834	ENSG00000138834	ENSG00000138834				6884	6884	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	"""homolog of Drosophila Sunday driver 2"""	605431	605431						10523642, 10629060	10523642, 10629060	Standard	Standard	XM_005255187	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	uc002cmk.3	Q9UPT6	Q9UPT6	OTTHUMG00000128637	OTTHUMG00000128637	ENST00000250894.4:c.1217A>G	16.37:g.1808152A>G	ENSP00000250894:p.Glu406Gly																	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37		CCDS10442.2	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814693	0.50527	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.34859	1.34;1.38	5.21	5.21	0.72293	5.21	5.21	0.72293	.	.	.	.	.	T	0.29976	0.0750	L	0.33485	1.01	0.54753	D	0.999989	B;B	0.23540	0.005;0.087	B;B	0.26416	0.01;0.069	T	0.06197	-1.0840	9	0.25751	T	0.34	1.3005	14.751	0.69525	1.0:0.0:0.0:0.0	.	407;406	B7ZMF3;Q9UPT6	.;JIP3_HUMAN	G	406	ENSP00000250894:E406G;ENSP00000348290:E406G	ENSP00000250894:E406G	E	+	2	0	0	MAPK8IP3	1748153	1748153	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.218000	0.77991	1.985000	0.57927	0.459000	0.35465	GAG		0.567	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2			-9	-9	38	38	NM_001040439		4			21							4	21	
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_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		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	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		57.660845	-9	-9	70	70	NM_002067		20	57.66711	57.667110	21	0.487805	0	0	0	1	0	20	21	0.487805
TRIM4	89122	broad.mit.edu	37	7	99489863	99489863	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr7:99489863C>T	ENST00000355947.2	-	7	1555	c.1426G>A	c.(1426-1428)Gtc>Atc	p.V476I	TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	476	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCGTGAGACAGAAGAACAA	0.502																																						ENST00000355947.2											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1426-1428)Gtc>Atc	tripartite motif containing 4						111.0	105.0	107.0					7																	99489863		2203	4300	6503	SO:0001583	missense	89122			protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99489863C>T	AF220023	AF220023	CCDS5678.1, CCDS5679.1	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833	ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	16275	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""			"""tripartite motif-containing 4"""		"""tripartite motif-containing 4"""			11331580	11331580	Standard	Standard	NM_033017	NM_033017		Approved	RNF87	uc003use.3	uc003use.3	Q9C037	Q9C037	OTTHUMG00000156648	OTTHUMG00000156648	ENST00000355947.2:c.1426G>A	7.37:g.99489863C>T	ENSP00000348216:p.Val476Ile		TRIM4_ENST00000349062.2_Missense_Mutation_p.V450I	p.V476I	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			7	1555	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	476	B30.2/SPRY.	A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1426G>A	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	C	5.143	0.211907	0.09757	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.60672	0.17;0.17	2.64	-1.47	0.08772	2.64	-1.47	0.08772	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.28863	0.0716	N	0.04203	-0.255	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.003;0.005	T	0.13361	-1.0512	9	0.41790	T	0.15	.	4.0111	0.09623	0.0:0.3024:0.1947:0.5028	.	450;476	Q9C037-2;Q9C037	.;TRIM4_HUMAN	I	476;450;306	ENSP00000348216:V476I;ENSP00000275736:V450I	ENSP00000275736:V450I	V	-	1	0	0	TRIM4	99327799	99327799	0.000000	0.05858	0.000000	0.03702	0.398000	0.30690	-0.272000	0.08560	-0.378000	0.07918	-0.136000	0.14681	GTC		0.502	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1		47.928694	13	13	93	93	NM_033017		18	49.515616	49.515616	38	0.321429	0	0	0	1	0	18	38	0.321429
PDP1	54704	broad.mit.edu	37	8	94935040	94935040	+	Silent	SNP	G	G	A	rs138553326		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr8:94935040G>A	ENST00000297598.4	+	2	1022	c.753G>A	c.(751-753)gcG>gcA	p.A251A	PDP1_ENST00000396200.3_Silent_p.A276A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	251					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCTTGGAGGCGCAAGTTGGTG	0.463																																						ENST00000396200.3											0			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(826-828)gcG>gcA	pyruvate dehyrogenase phosphatase catalytic subunit 1	G	,,,,	0,4406		0,0,2203	124.0	125.0	124.0		930,828,828,753,753	-2.5	1.0	8	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDP1	NM_001161778.1,NM_001161779.1,NM_001161780.1,NM_001161781.1,NM_018444.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	310/597,276/563,276/563,251/538,251/538	94935040	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54704			pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94935040G>A	AF155661	AF155661	CCDS6259.1, CCDS55262.1	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	9279	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605993	605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	8396421	Standard	Standard	NM_001161779	NM_001161779		Approved	PDP, PDH	uc003ygf.3	uc003ygf.3	Q9P0J1	Q9P0J1			ENST00000297598.4:c.753G>A	8.37:g.94935040G>A			PDP1_ENST00000297598.4_Silent_p.A251A|PDP1_ENST00000520728.1_Silent_p.A251A|PDP1_ENST00000517764.1_Silent_p.A251A	p.A276A	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN			3	1104	+			251		B3KX71|J3KPU0|Q5U5K1	Silent	SNP	ENST00000297598.4	37	c.828G>A	CCDS6259.1																																																																																									0.463	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2		-56.406475	0	0	133	133	NM_018444		4	6.597551	6.597551	235	0.016736	0	0	0	1	0	4	235	0.016736
GRIN2B	2904	broad.mit.edu	37	12	13717090	13717090	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr12:13717090G>A	ENST00000609686.1	-	13	3291	c.3082C>T	c.(3082-3084)Ccc>Tcc	p.P1028S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1028					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGGAGGAGGGGAGGCCGATG	0.597																																						ENST00000609686.1											0			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3082-3084)Ccc>Tcc	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						90.0	70.0	77.0					12																	13717090		2203	4300	6503	SO:0001583	missense	2904			response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717090G>A			CCDS8662.1	CCDS8662.1	12p13.1	2014-07-16			2014-07-16			ENSG00000273079		ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	4586	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			138252	138252		NMDAR2B		NMDAR2B		1350383	1350383	Standard	Standard	NM_000834	NM_000834		Approved	GluN2B	uc001rbt.2	uc001rbt.2	Q13224	Q13224	OTTHUMG00000137373	OTTHUMG00000137373	ENST00000609686.1:c.3082C>T	12.37:g.13717090G>A	ENSP00000477455:p.Pro1028Ser			p.P1028S	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3291	-					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3082C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169345	0.57584	.	.	ENSG00000150086	ENST00000279593	T	0.11930	2.73	5.57	4.68	0.58851	5.57	4.68	0.58851	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.250220	0.41097	D	0.000952	T	0.09992	0.0245	N	0.25647	0.755	0.53688	D	0.999974	B	0.33448	0.412	B	0.26310	0.068	T	0.11084	-1.0602	10	0.52906	T	0.07	.	12.9157	0.58205	0.0755:0.0:0.9245:0.0	.	1028	Q13224	NMDE2_HUMAN	S	1028	ENSP00000279593:P1028S	ENSP00000279593:P1028S	P	-	1	0	0	GRIN2B	13608357	13608357	1.000000	0.71417	0.860000	0.33809	0.986000	0.74619	4.750000	0.62162	1.363000	0.46019	0.650000	0.86243	CCC		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		43.344087	2	2	38	38			14	43.57521	43.575210	20	0.411765	0	0	0	1	0	14	20	0.411765
IGHE	3497	broad.mit.edu	37	14	106067994	106067994	+	lincRNA	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr14:106067994G>A	ENST00000390540.2	-	0	391				IGHE_ENST00000576077.1_RNA|AL928742.12_ENST00000412518.1_lincRNA|IGHE_ENST00000577108.1_RNA																							CCAGAGTCACGGAGGTGGCAT	0.607																																						ENST00000390540.2											0																	98.0	112.0	108.0					14																	106067994		2131	4232	6363			0						g.chr14:106067994G>A																																																		14.37:g.106067994G>A											0	391	-						RNA	SNP	ENST00000390540.2	37																																																																																											0.607	RP11-731F5.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000380286.1		36.326958	-4	-4	27	27			11	36.326958	36.326958	11	0.500000	0	0	0	1	0	11	11	0.5
ANO10	55129	ucsc.edu	37	3	43596927	43596927	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr3:43596927T>C	ENST00000292246.3	-	10	1681	c.1511A>G	c.(1510-1512)cAg>cGg	p.Q504R	ANO10_ENST00000396091.3_Missense_Mutation_p.Q438R|ANO10_ENST00000350459.4_Missense_Mutation_p.Q314R|ANO10_ENST00000451430.2_Missense_Mutation_p.Q393R|ANO10_ENST00000414522.2_Missense_Mutation_p.Q504R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	504					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAACCAAACTGCAGGAATAA	0.343																																																	0																	90.0	88.0	89.0					3																	43596927		2203	4300	6503	SO:0001583	missense	55129							AL832508	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	25519	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613726	613726	"""transmembrane protein 16K"""	TMEM16K	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	12477932, 24692353	Standard	Standard	NM_001204831	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	uc003cmv.3	Q9NW15	Q9NW15	OTTHUMG00000133044	OTTHUMG00000133044	ENST00000292246.3:c.1511A>G	3.37:g.43596927T>C	ENSP00000292246:p.Gln504Arg																	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37		CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536127	0.64972	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.067852	0.64402	D	0.000010	D	0.84844	0.5562	M	0.88377	2.95	0.37000	D	0.895229	D;D;D;D;D	0.89917	0.995;0.999;1.0;0.995;0.996	D;D;D;D;D	0.76575	0.959;0.988;0.986;0.972;0.984	D	0.89198	0.3555	10	0.87932	D	0	.	10.4237	0.44365	0.1454:0.0:0.0:0.8545	.	393;504;314;438;504	Q9NW15-4;C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;.;ANO10_HUMAN	R	504;314;438;504;393	ENSP00000292246:Q504R;ENSP00000327767:Q314R;ENSP00000379398:Q438R;ENSP00000396990:Q504R;ENSP00000394119:Q393R	ENSP00000292246:Q504R	Q	-	2	0	0	ANO10	43571931	43571931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.466000	0.53071	1.990000	0.58119	0.533000	0.62120	CAG		0.343	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2			9	9	50	50	NM_018075		4			19							4	19	
SYNE1	23345	ucsc.edu	37	6	152631012	152631012	+	Silent	SNP	G	G	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr6:152631012G>A	ENST00000367255.5	-	90	17761	c.17160C>T	c.(17158-17160)agC>agT	p.S5720S	SYNE1_ENST00000341594.5_Silent_p.S5332S|SYNE1_ENST00000265368.4_Silent_p.S5720S|SYNE1_ENST00000423061.1_Silent_p.S5649S|SYNE1_ENST00000356820.4_Silent_p.S244S|SYNE1_ENST00000448038.1_Silent_p.S5649S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5720					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGCAGCCGGCTGGCCTCTT	0.582										HNSCC(10;0.0054)																																							0																	61.0	57.0	58.0					6																	152631012		2203	4300	6503	SO:0001819	synonymous_variant	23345							AB018339	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			2014-09-17			ENSG00000131018	ENSG00000131018	ENSG00000131018	ENSG00000131018				17089	17089	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	608441	"""chromosome 6 open reading frame 98"""	C6orf98	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	9872452, 10878022	Standard	Standard	NM_182961	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	uc003qou.4	Q8NF91	Q8NF91	OTTHUMG00000015841	OTTHUMG00000015841	ENST00000367255.5:c.17160C>T	6.37:g.152631012G>A																		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37		CCDS5236.2																																																																																									0.582	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2			-8	-8	33	33	NM_182961		4			35							4	35	
OR10G4	390264	broad.mit.edu	37	11	123886874	123886874	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr11:123886874T>C	ENST00000320891.4	+	1	593	c.593T>C	c.(592-594)aTc>aCc	p.I198T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGATGGTCATCTTTGTGGAC	0.547																																						ENST00000320891.4											0			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(592-594)aTc>aCc	olfactory receptor, family 10, subfamily G, member 4						268.0	217.0	234.0					11																	123886874		2201	4299	6500	SO:0001583	missense	390264			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886874T>C	AB065757	AB065757	CCDS31702.1	CCDS31702.1	11q24.1	2012-08-09			2012-08-09			ENSG00000254737	ENSG00000254737	ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	14809	14809	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004462	NM_001004462		Approved		uc010sac.2	uc010sac.2	Q8NGN3	Q8NGN3	OTTHUMG00000165966	OTTHUMG00000165966	ENST00000320891.4:c.593T>C	11.37:g.123886874T>C	ENSP00000325076:p.Ile198Thr			p.I198T	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	593	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	198		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.593T>C	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	t	6.532	0.466481	0.12402	.	.	ENSG00000254737	ENST00000320891	T	0.00145	8.67	3.33	3.33	0.38152	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.141128	0.32444	N	0.006091	T	0.00178	0.0005	N	0.20445	0.575	0.29292	N	0.869291	D	0.59767	0.986	D	0.63113	0.911	T	0.62421	-0.6858	10	0.33940	T	0.23	.	8.0035	0.30310	0.0:0.1052:0.0:0.8948	.	198	Q8NGN3	O10G4_HUMAN	T	198	ENSP00000325076:I198T	ENSP00000325076:I198T	I	+	2	0	0	OR10G4	123392084	123392084	0.000000	0.05858	0.936000	0.37596	0.063000	0.16089	0.075000	0.14686	1.529000	0.49120	0.473000	0.43528	ATC		0.547	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1		150.552488	13	13	125	125	NM_001004462		46	150.562175	150.562175	44	0.511111	0	0	0	1	0	46	44	0.511111
MYOF	26509	broad.mit.edu	37	10	95111448	95111448	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr10:95111448T>A	ENST00000359263.4	-	33	3636	c.3637A>T	c.(3637-3639)Atg>Ttg	p.M1213L	MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L|MYOF_ENST00000371501.4_Missense_Mutation_p.M1213L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1213	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAAGTTCCATGATAACTTTG	0.403																																						ENST00000371501.4											0			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3637-3639)Atg>Ttg	myoferlin						119.0	116.0	117.0					10																	95111448		1812	4082	5894	SO:0001583	missense	26509			blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95111448T>A	AB033033	AB033033	CCDS41550.1, CCDS41551.1	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119	ENSG00000138119	ENSG00000138119				3656	3656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	"""fer-1-like family member 3"""	604603	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	10607832, 10995573, 17702744	Standard	Standard	NM_013451	NM_013451		Approved	KIAA1207	uc001kin.3	uc001kin.3	Q9NZM1	Q9NZM1	OTTHUMG00000018772	OTTHUMG00000018772	ENST00000359263.4:c.3637A>T	10.37:g.95111448T>A	ENSP00000352208:p.Met1213Leu		MYOF_ENST00000359263.4_Missense_Mutation_p.M1213L|MYOF_ENST00000358334.5_Missense_Mutation_p.M1200L|MYOF_ENST00000371502.4_Missense_Mutation_p.M1213L	p.M1213L			Q9NZM1	MYOF_HUMAN			33	3759	-			1213	C2 4.	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3637A>T	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	0.882	-0.728473	0.03135	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.77	3.44	0.39384	5.77	3.44	0.39384	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.384015	0.30602	N	0.009262	T	0.22589	0.0545	N	0.00873	-1.125	0.19575	N	0.999969	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21999	-1.0229	10	0.13853	T	0.58	-3.3848	9.1397	0.36897	0.0:0.2068:0.0:0.7932	.	1200;1213	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	L	1200;1213;1213;1213	ENSP00000351094:M1200L;ENSP00000352208:M1213L;ENSP00000360556:M1213L;ENSP00000360557:M1213L	ENSP00000351094:M1200L	M	-	1	0	0	MYOF	95101438	95101438	0.999000	0.42202	0.039000	0.18376	0.239000	0.25481	0.708000	0.25719	0.458000	0.26988	-0.297000	0.09499	ATG		0.403	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		75.958055	7	7	98	98	NM_013451		25	76.629234	76.629234	39	0.390625	0	0	0	1	0	25	39	0.390625
SYNGAP1	8831	broad.mit.edu	37	6	33403335	33403335	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr6:33403335C>T	ENST00000418600.2	+	7	808	c.707C>T	c.(706-708)gCg>gTg	p.A236V	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	236	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGTCGGTCTGCGGCCGAAAGA	0.507																																						ENST00000418600.2											0			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(706-708)gCg>gTg	synaptic Ras GTPase activating protein 1						178.0	163.0	168.0					6																	33403335		2203	4300	6503	SO:0001583	missense	8831			negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33403335C>T	AB067525	AB067525	CCDS34434.2	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283	ENSG00000197283	ENSG00000197283				11497	11497	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603384	603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""		"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	9581761, 18323856	Standard	Standard	NM_006772	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	uc011dri.2	Q96PV0	Q96PV0	OTTHUMG00000031096	OTTHUMG00000031096	ENST00000418600.2:c.707C>T	6.37:g.33403335C>T	ENSP00000403636:p.Ala236Val		SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.A177V|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.A236V	p.A236V	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			7	808	+			236	PH.	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	c.707C>T	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	C	33	5.223162	0.95139	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	D;D;D	0.93366	-3.21;-3.21;-3.21	4.62	4.62	0.57501	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.80746	2.51	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.979	B;P;P	0.53689	0.446;0.648;0.732	D	0.95111	0.8238	10	0.87932	D	0	.	15.0065	0.71516	0.0:1.0:0.0:0.0	.	236;236;236	Q96PV0;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.	V	236;236;236;177	ENSP00000293748:A236V;ENSP00000403636:A236V;ENSP00000412475:A177V	ENSP00000293748:A236V	A	+	2	0	0	SYNGAP1	33511313	33511313	1.000000	0.71417	0.958000	0.39756	0.962000	0.63368	7.651000	0.83577	2.391000	0.81399	0.591000	0.81541	GCG		0.507	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4		-23.911289	-8	-8	174	174	XM_166407		4	6.896118	6.896118	124	0.031250	0	0	0	1	0	4	124	0.03125
NOP9	161424	broad.mit.edu	37	14	24769766	24769766	+	Missense_Mutation	SNP	C	C	T	rs148747544		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr14:24769766C>T	ENST00000267425.3	+	2	493	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	DHRS1_ENST00000396813.1_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.R134C|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	134							poly(A) RNA binding (GO:0044822)										CTCTAACTTGCGCACTGTGGC	0.572																																						ENST00000267425.3											0										c.(400-402)Cgc>Tgc	NOP9 nucleolar protein	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	212.0	185.0	194.0		400	5.0	0.1	14	dbSNP_134	194	0,8600		0,0,4300	no	missense	C14orf21	NM_174913.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	134/637	24769766	1,13005	2203	4300	6503	SO:0001583	missense	161424						g.chr14:24769766C>T			CCDS9624.1, CCDS66616.1	CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943	ENSG00000196943	ENSG00000196943				19826	19826	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21	"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	21653694	Standard	Standard	XM_005267385	XM_005267385		Approved		uc001wol.1	uc001wol.1	Q86U38	Q86U38	OTTHUMG00000029342	OTTHUMG00000029342	ENST00000267425.3:c.400C>T	14.37:g.24769766C>T	ENSP00000267425:p.Arg134Cys		NOP9_ENST00000396802.3_Missense_Mutation_p.R134C	p.R134C	NM_174913.1	NP_777573.1					2	493	+					A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.400C>T	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600058	0.66332	2.27E-4	0.0	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.14144	2.53;2.53	4.96	4.96	0.65561	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.301944	0.31963	N	0.006784	T	0.31009	0.0783	M	0.68593	2.085	0.21822	N	0.999527	D	0.76494	0.999	P	0.57960	0.83	T	0.06481	-1.0824	10	0.38643	T	0.18	-12.0003	17.1191	0.86697	0.0:1.0:0.0:0.0	.	134	Q86U38	CN021_HUMAN	C	134	ENSP00000267425:R134C;ENSP00000380020:R134C	ENSP00000267425:R134C	R	+	1	0	0	C14orf21	23839606	23839606	0.790000	0.28787	0.106000	0.21319	0.538000	0.34931	4.099000	0.57755	2.558000	0.86282	0.655000	0.94253	CGC		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2		-57.411262	-4	-4	279	279			4	6.573211	6.573211	238	0.016529	0	0	0	1	0	4	238	0.016529
CDRT15L2	256223	broad.mit.edu	37	17	20483993	20483993	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr17:20483993delG	ENST00000399044.1	+	2	817	c.797delG	c.(796-798)tggfs	p.W266fs	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	266						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						GTCTGCAACTGGGCATCCAGG	0.567																																						ENST00000399044.1											0			central_nervous_system(1)	1						c.(796-798)tggfs	CMT1A duplicated region transcript 15-like 2																																			SO:0001589	frameshift_variant	256223				integral to membrane		g.chr17:20483993delG			CCDS54096.1	CCDS54096.1	17p11.2	2008-10-30			2008-10-30			ENSG00000214819	ENSG00000214819	ENSG00000214819	ENSG00000214819				34075	34075	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001190790	NM_001190790		Approved		uc021tsn.1	uc021tsn.1	A8MXV6	A8MXV6	OTTHUMG00000059557	OTTHUMG00000059557	ENST00000399044.1:c.797delG	17.37:g.20483993delG	ENSP00000382000:p.Trp266fs			p.W266fs	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN			2	817	+			266			Frame_Shift_Del	DEL	ENST00000399044.1	37	c.797delG	CCDS54096.1																																																																																									0.567	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132432.3	.	.	-5	-5	3	3	XM_170840		2			4	0.33						2	4	0.33
DROSHA	29102	broad.mit.edu	37	5	31526492	31526492	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	g.chr5:31526492delT	ENST00000511367.2	-	4	792	c.548delA	c.(547-549)aatfs	p.N183fs	DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N183fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	183	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CTGGAAACTATTAAAACTGGG	0.522																																						ENST00000511367.2											0			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(547-549)aatfs	drosha, ribonuclease type III						69.0	69.0	69.0					5																	31526492		1872	4115	5987	SO:0001589	frameshift_variant	29102			gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526492delT	AF116910	AF116910	CCDS47194.1, CCDS47195.1	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	ENSG00000113360	ENSG00000113360	3.1.26.3			17904	17904	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	608828	"""ribonuclease type III, nuclear"""	RNASEN	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	10713462, 10948199	Standard	Standard	NM_013235	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	uc003jhg.2	Q9NRR4	Q9NRR4	OTTHUMG00000161976	OTTHUMG00000161976	ENST00000511367.2:c.548delA	5.37:g.31526492delT	ENSP00000425979:p.Asn183fs		DROSHA_ENST00000513349.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.N183fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.N183fs	p.N183fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			4	792	-			183	Pro-rich.	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.548delA	CCDS47195.1																																																																																									0.522	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	.	.	-3	-3	59	59	NM_013235		26			28	0.48						26	28	0.48
