#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRRAP	8295	broad.mit.edu	37	7	98524941	98524941	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:98524941G>A	ENST00000359863.4	+	23	3336	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1043T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1042T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1043					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTCGCCAGCTTGAT	0.607																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(3127-3129)Gcc>Acc		transformation/transcription domain-associated protein							29.0	31.0	30.0					7																	98524941		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98524941G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3127G>A	7.37:g.98524941G>A	ENSP00000352925:p.Ala1043Thr					TRRAP_ENST00000355540.3_Missense_Mutation_p.A1043T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1042T	p.A1043T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	3336	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1043					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.3127G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832741	0.71258	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.65732	-0.17;-0.17	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.119371	0.56097	D	0.000031	T	0.44644	0.1303	N	0.21448	0.665	0.80722	D	1	P;B;P	0.43314	0.803;0.399;0.751	B;B;B	0.29598	0.104;0.04;0.066	T	0.42899	-0.9424	10	0.20046	T	0.44	.	19.7437	0.96243	0.0:0.0:1.0:0.0	.	1043;757;1043	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	1043;1043;1041	ENSP00000352925:A1043T;ENSP00000347733:A1043T	ENSP00000347733:A1043T	A	+	1	0	TRRAP	98362877	1.000000	0.71417	0.963000	0.40424	0.663000	0.39108	9.864000	0.99589	2.676000	0.91093	0.585000	0.79938	GCC		0.607	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		10	39	0	0	0	1	0	10	39				
MYO1B	4430	broad.mit.edu	37	2	192250645	192250645	+	Missense_Mutation	SNP	G	G	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:192250645G>C	ENST00000392318.3	+	16	1636	c.1389G>C	c.(1387-1389)gaG>gaC	p.E463D	MYO1B_ENST00000304164.4_Missense_Mutation_p.E463D|MYO1B_ENST00000392316.1_Missense_Mutation_p.E463D|MYO1B_ENST00000339514.4_Missense_Mutation_p.E463D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	463	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGGATGAAGAGTGCCTCAGAC	0.428																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1387-1389)gaG>gaC		myosin IB							182.0	176.0	178.0					2																	192250645		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192250645G>C	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1389G>C	2.37:g.192250645G>C	ENSP00000376132:p.Glu463Asp					MYO1B_ENST00000304164.4_Missense_Mutation_p.E463D|MYO1B_ENST00000392316.1_Missense_Mutation_p.E463D|MYO1B_ENST00000339514.4_Missense_Mutation_p.E463D	p.E463D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		16	1636	+			463			Myosin head-like.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.1389G>C	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483541	0.63962	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.23	3.44	0.39384	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.93625	0.7964	M	0.85041	2.73	0.80722	D	1	D;D;D	0.59357	0.985;0.985;0.967	D;D;D	0.66847	0.947;0.947;0.911	D	0.92967	0.6394	10	0.66056	D	0.02	.	9.9952	0.41896	0.2753:0.0:0.7247:0.0	.	463;463;463	B0I1S9;O43795;O43795-2	.;MYO1B_HUMAN;.	D	463	ENSP00000341903:E463D;ENSP00000376132:E463D;ENSP00000306382:E463D;ENSP00000376130:E463D	ENSP00000306382:E463D	E	+	3	2	MYO1B	191958890	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	1.323000	0.33701	0.716000	0.32124	-0.245000	0.11935	GAG		0.428	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		71	137	0	0	0	1	0	71	137				
PDE4B	5142	broad.mit.edu	37	1	66723492	66723492	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:66723492G>A	ENST00000329654.4	+	6	717	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Missense_Mutation_p.R177Q|PDE4B_ENST00000423207.2_Missense_Mutation_p.R162Q	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	177					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GCCAGCTTGCGAAGTGTGAGA	0.398																																						ENST00000423207.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37						c.(484-486)cGa>cAa		phosphodiesterase 4B, cAMP-specific	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						130.0	121.0	124.0					1																	66723492		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66723492G>A	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.530G>A	1.37:g.66723492G>A	ENSP00000332116:p.Arg177Gln					PDE4B_ENST00000371049.3_Missense_Mutation_p.R177Q|PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000329654.4_Missense_Mutation_p.R177Q	p.R162Q	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN			4	970	+			177					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.485G>A	CCDS632.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623356	0.87460	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480	T;T;T;T;D	0.85339	-1.07;-1.07;-1.07;-1.07;-1.97	5.07	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.89856	0.6836	M	0.78637	2.42	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.976;0.946;0.946	D	0.90820	0.4708	10	0.54805	T	0.06	.	14.7135	0.69251	0.0:0.1459:0.8541:0.0	.	162;167;177	Q07343-3;Q59GM8;Q07343	.;.;PDE4B_HUMAN	Q	177;177;177;162;85	ENSP00000332116:R177Q;ENSP00000342637:R177Q;ENSP00000360088:R177Q;ENSP00000392947:R162Q;ENSP00000397548:R85Q	ENSP00000332116:R177Q	R	+	2	0	PDE4B	66496080	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.461000	0.90372	1.484000	0.48361	0.650000	0.86243	CGA		0.398	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		37	68	0	0	0	1	0	37	68				
NOTCH3	4854	broad.mit.edu	37	19	15276813	15276813	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:15276813C>T	ENST00000263388.2	-	30	5527	c.5452G>A	c.(5452-5454)Gct>Act	p.A1818T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1818					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATGATGCTAGCTGATGTGTCA	0.602																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5452-5454)Gct>Act		notch 3							80.0	68.0	72.0					19																	15276813		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276813C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5452G>A	19.37:g.15276813C>T	ENSP00000263388:p.Ala1818Thr						p.A1818T	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5527	-			1818					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5452G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357533	0.95854	.	.	ENSG00000074181	ENST00000263388	D	0.83075	-1.68	5.36	5.36	0.76844	Ankyrin repeat-containing domain (3);	0.000000	0.32190	N	0.006458	T	0.73281	0.3567	N	0.13299	0.325	0.80722	D	1	P	0.38370	0.628	B	0.37508	0.252	T	0.76110	-0.3079	10	0.49607	T	0.09	.	18.0231	0.89261	0.0:1.0:0.0:0.0	.	1818	Q9UM47	NOTC3_HUMAN	T	1818	ENSP00000263388:A1818T	ENSP00000263388:A1818T	A	-	1	0	NOTCH3	15137813	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	4.739000	0.62080	2.790000	0.95986	0.655000	0.94253	GCT		0.602	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		17	40	0	0	0	1	0	17	40				
PKIG	11142	broad.mit.edu	37	20	43246999	43246999	+	Silent	SNP	G	G	A	rs201059818		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:43246999G>A	ENST00000372889.1	+	6	810	c.225G>A	c.(223-225)tcG>tcA	p.S75S	ADA_ENST00000464097.1_5'Flank|PKIG_ENST00000372891.3_Silent_p.S75S|PKIG_ENST00000372886.1_Silent_p.S75S|PKIG_ENST00000372894.3_Silent_p.S75S|PKIG_ENST00000349959.3_Silent_p.S75S|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372892.3_Silent_p.S75S	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	75					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			GGACCACCTCGTCTTGAATCT	0.592																																						ENST00000372889.1																			0				breast(1)|urinary_tract(1)	2						c.(223-225)tcG>tcA		protein kinase (cAMP-dependent, catalytic) inhibitor gamma		G	,,	0,4406		0,0,2203	120.0	122.0	121.0		225,225,225	-7.3	0.1	20		121	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PKIG	NM_007066.3,NM_181804.1,NM_181805.1	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	75/77,75/77,75/77	43246999	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11142						cAMP-dependent protein kinase inhibitor activity|protein binding	g.chr20:43246999G>A	AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.225G>A	20.37:g.43246999G>A						PKIG_ENST00000372892.3_Silent_p.S75S|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372891.3_Silent_p.S75S|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000349959.3_Silent_p.S75S|PKIG_ENST00000372886.1_Silent_p.S75S|PKIG_ENST00000372894.3_Silent_p.S75S	p.S75S			Q9Y2B9	IPKG_HUMAN	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)		6	810	+		Myeloproliferative disorder(115;0.0122)	75						Silent	SNP	ENST00000372889.1	37	c.225G>A	CCDS13334.1																																																																																				0.592	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127804.1			40	80	0	0	0	1	0	40	80				
FOXL2	668	broad.mit.edu	37	3	138665391	138665391	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:138665391C>T	ENST00000330315.3	-	1	591	c.174G>A	c.(172-174)tcG>tcA	p.S58S	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	58			S -> L (in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity). {ECO:0000269|PubMed:18642388}.		apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GCGCCACGTACGAGTACGGGG	0.692			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																															ENST00000330315.3				Dom	yes		3	3q23	668	Mis	forkhead box L2	yes	"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""	O			granulosa-cell tumour of the ovary		0				large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						c.(172-174)tcG>tcA		forkhead box L2							31.0	35.0	34.0					3																	138665391		2202	4298	6500	SO:0001819	synonymous_variant	668				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr3:138665391C>T	AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.174G>A	3.37:g.138665391C>T							p.S58S	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN			1	591	-			58		S -> L (in BPES; sporadic; nuclear and cytoplasmic aggregation; impaired transactivation activity).			Q4ZGJ3	Silent	SNP	ENST00000330315.3	37	c.174G>A	CCDS3105.1																																																																																				0.692	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1			25	137	0	0	0	1	0	25	137				
SPTA1	6708	broad.mit.edu	37	1	158585173	158585173	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:158585173C>T	ENST00000368147.4	-	48	6801	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2207					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATCGCCTGGATCTCCT	0.468																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6619-6621)caG>caA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							148.0	142.0	144.0					1																	158585173		1912	4140	6052	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585173C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6621G>A	1.37:g.158585173C>T						SPTA1_ENST00000368147.3_Silent_p.Q2204Q	p.Q2207Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6801	-	all_hematologic(112;0.0378)		2207					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6621G>A	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		56	90	0	0	0	1	0	56	90				
OFCC1	266553	broad.mit.edu	37	6	9933508	9933508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:9933508G>A	ENST00000316020.6	-	3	249	c.250C>T	c.(250-252)Cag>Tag	p.Q84*	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	16										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GATTTCTTCTGCTTAGTTTGC	0.348																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(250-252)Cag>Tag		orofacial cleft 1 candidate 1							90.0	91.0	91.0					6																	9933508		2203	4300	6503	SO:0001587	stop_gained	266553							g.chr6:9933508G>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.250C>T	6.37:g.9933508G>A	ENSP00000325053:p.Gln84*					OFCC1_ENST00000472329.1_5'UTR	p.Q84*							3	249	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Nonsense_Mutation	SNP	ENST00000316020.6	37	c.250C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.755184	0.97813	.	.	ENSG00000181355	ENST00000460363;ENST00000316020;ENST00000491508	.	.	.	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.4172	20.3465	0.98790	0.0:0.0:1.0:0.0	.	.	.	.	X	16;84;84	.	.	Q	-	1	0	OFCC1	10041494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.798000	0.96311	0.655000	0.94253	CAG		0.348	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		4	86	0	0	0	1	0	4	86				
IARS2	55699	broad.mit.edu	37	1	220298619	220298619	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:220298619G>A	ENST00000302637.5	+	13	1785	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	IARS2_ENST00000366922.1_Missense_Mutation_p.G489S	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	561					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAACAACACGGCAGTGATAT	0.373																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1465-1467)Ggc>Agc		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						93.0	88.0	89.0					1																	220298619		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220298619G>A	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1681G>A	1.37:g.220298619G>A	ENSP00000303279:p.Gly561Ser					IARS2_ENST00000302637.5_Missense_Mutation_p.G561S	p.G489S			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	13	1796	+			561					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1465G>A	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851220	0.91277	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.47528	0.84;0.84	5.55	5.55	0.83447	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80061	-0.1540	10	0.87932	D	0	-8.1171	19.1167	0.93344	0.0:0.0:1.0:0.0	.	561	Q9NSE4	SYIM_HUMAN	S	489;561	ENSP00000355889:G489S;ENSP00000303279:G561S	ENSP00000303279:G561S	G	+	1	0	IARS2	218365242	1.000000	0.71417	0.986000	0.45419	0.647000	0.38526	5.786000	0.69006	2.612000	0.88384	0.467000	0.42956	GGC		0.373	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		16	75	0	0	0	1	0	16	75				
TIMD4	91937	broad.mit.edu	37	5	156376739	156376739	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr5:156376739G>A	ENST00000274532.2	-	4	739	c.683C>T	c.(682-684)tCa>tTa	p.S228L	TIMD4_ENST00000407087.3_Missense_Mutation_p.S228L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	228						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACAGTTTCTGATTCTGGAAG	0.418																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(682-684)tCa>tTa		T-cell immunoglobulin and mucin domain containing 4							68.0	58.0	61.0					5																	156376739		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156376739G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.683C>T	5.37:g.156376739G>A	ENSP00000274532:p.Ser228Leu					TIMD4_ENST00000407087.3_Missense_Mutation_p.S228L	p.S228L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	739	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	228					B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.683C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408045	0.25378	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.21031	2.03;2.07	3.7	1.9	0.25705	.	1.117560	0.07100	N	0.840231	T	0.14313	0.0346	L	0.27053	0.805	0.09310	N	1	B;B	0.21309	0.054;0.054	B;B	0.20767	0.031;0.031	T	0.33317	-0.9873	10	0.34782	T	0.22	-0.8763	4.6695	0.12682	0.1133:0.0:0.6731:0.2136	.	228;228	B5MCL9;Q96H15	.;TIMD4_HUMAN	L	228	ENSP00000274532:S228L;ENSP00000385973:S228L	ENSP00000274532:S228L	S	-	2	0	TIMD4	156309317	0.000000	0.05858	0.011000	0.14972	0.349000	0.29174	0.462000	0.21956	0.535000	0.28714	0.655000	0.94253	TCA		0.418	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		11	20	0	0	0	1	0	11	20				
KCNK10	54207	broad.mit.edu	37	14	88658749	88658749	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr14:88658749C>T	ENST00000340700.5	-	5	1123	c.672G>A	c.(670-672)aaG>aaA	p.K224K	KCNK10_ENST00000312350.5_Silent_p.K229K|KCNK10_ENST00000319231.5_Silent_p.K229K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	224					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GACTCACTTGCTTTTTCTAGG	0.468																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(670-672)aaG>aaA		potassium channel, subfamily K, member 10							131.0	120.0	124.0					14																	88658749		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658749C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.672G>A	14.37:g.88658749C>T						KCNK10_ENST00000319231.5_Silent_p.K229K|KCNK10_ENST00000312350.5_Silent_p.K229K	p.K224K	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1123	-			224					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.672G>A	CCDS9880.1																																																																																				0.468	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		19	45	0	0	0	1	0	19	45				
N4BP2L1	90634	broad.mit.edu	37	13	32972303	32972303	+	IGR	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:32972303C>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.S3218F|BRCA2_ENST00000544455.1_Missense_Mutation_p.S3218F	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TATCAGATGTCTTCTCCTAAT	0.318																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9652-9654)tCt>tTt	Homologous recombination	breast cancer 2, early onset							71.0	81.0	77.0					13																	32972303		2202	4299	6501	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972303C>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972303C>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S3218F	p.S3218F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	9880	+		Lung SC(185;0.0262)	3218					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.9653C>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702264	0.30232	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00922	5.54;5.54	5.07	3.33	0.38152	.	0.781231	0.12114	N	0.498296	T	0.03305	0.0096	L	0.56769	1.78	0.24009	N	0.996186	D	0.76494	0.999	D	0.66602	0.945	T	0.48305	-0.9047	10	0.33940	T	0.23	.	9.4597	0.38776	0.0:0.7752:0.1449:0.08	.	3218	P51587	BRCA2_HUMAN	F	3218	ENSP00000369497:S3218F;ENSP00000439902:S3218F	ENSP00000369497:S3218F	S	+	2	0	BRCA2	31870303	0.170000	0.23016	0.513000	0.27749	0.053000	0.15095	1.934000	0.40163	0.701000	0.31803	0.591000	0.81541	TCT		0.318	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		11	147	0	0	0	1	0	11	147				
CENPE	1062	broad.mit.edu	37	4	104080281	104080281	+	Missense_Mutation	SNP	A	A	C	rs140314436		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:104080281A>C	ENST00000265148.3	-	22	2576	c.2487T>G	c.(2485-2487)ttT>ttG	p.F829L	CENPE_ENST00000380026.3_Missense_Mutation_p.F804L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	829					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTTTTGCTCAAAGTCCATAT	0.348																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(2485-2487)ttT>ttG		centromere protein E, 312kDa							120.0	120.0	120.0					4																	104080281		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104080281A>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2487T>G	4.37:g.104080281A>C	ENSP00000265148:p.Phe829Leu					CENPE_ENST00000380026.3_Missense_Mutation_p.F804L	p.F829L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	22	2576	-			829					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.2487T>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.529513	0.00951	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.74947	-0.89;-0.89;-0.89	5.03	-0.734	0.11140	.	.	.	.	.	T	0.33962	0.0881	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.34079	-0.9843	9	0.02654	T	1	.	1.747	0.02964	0.3891:0.2641:0.0753:0.2715	.	804;829	Q02224-3;Q02224	.;CENPE_HUMAN	L	829;829;804;829	ENSP00000265148:F829L;ENSP00000369365:F804L;ENSP00000423981:F829L	ENSP00000265148:F829L	F	-	3	2	CENPE	104299730	0.162000	0.22906	0.027000	0.17364	0.303000	0.27691	0.179000	0.16840	-0.295000	0.08960	0.528000	0.53228	TTT		0.348	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	76	0	0	0	1	0	29	76				
KIAA1683	80726	broad.mit.edu	37	19	18368502	18368502	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:18368502C>G	ENST00000600328.3	-	4	3224	c.3031G>C	c.(3031-3033)Gcc>Ccc	p.A1011P	KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1198P|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A965P|PDE4C_ENST00000596647.1_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1011						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGACCCCGGCCCGGCTGCCC	0.667																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3592-3594)Gcc>Ccc		KIAA1683							28.0	34.0	32.0					19																	18368502		2148	4205	6353	SO:0001583	missense	80726					mitochondrion		g.chr19:18368502C>G	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3031G>C	19.37:g.18368502C>G	ENSP00000470780:p.Ala1011Pro					KIAA1683_ENST00000600328.2_Missense_Mutation_p.A1011P|KIAA1683_ENST00000600359.2_Missense_Mutation_p.A965P	p.A1198P	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3807	-			0					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3592G>C	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979927	0.34942	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03801	3.92;3.92;3.8	2.02	0.894	0.19242	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	P;D	0.54964	0.94;0.969	B;P	0.53185	0.441;0.72	T	0.41858	-0.9485	9	0.28530	T	0.3	.	4.0321	0.09713	0.0:0.7458:0.0:0.2542	.	1198;1011	E9PDE0;Q9H0B3	.;K1683_HUMAN	P	1198;1011;965;275;625	ENSP00000376213:A1198P;ENSP00000352774:A1011P;ENSP00000404501:A965P	ENSP00000352774:A1011P	A	-	1	0	KIAA1683	18229502	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.123000	0.10611	0.133000	0.18654	0.313000	0.20887	GCC		0.667	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			27	73	0	0	0	1	0	27	73				
EPHB1	2047	broad.mit.edu	37	3	134670849	134670849	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:134670849A>G	ENST00000398015.3	+	3	1130	c.760A>G	c.(760-762)Acc>Gcc	p.T254A	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	254	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGCGATGCACCTGCAAGCC	0.582																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(760-762)Acc>Gcc		EPH receptor B1							147.0	144.0	145.0					3																	134670849		2130	4267	6397	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670849A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.760A>G	3.37:g.134670849A>G	ENSP00000381097:p.Thr254Ala					EPHB1_ENST00000488154.1_Intron	p.T254A	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			3	1130	+			254			Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.760A>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783071	0.31593	.	.	ENSG00000154928	ENST00000398015	T	0.72835	-0.69	5.6	3.06	0.35304	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.052781	0.64402	D	0.000001	T	0.60117	0.2244	L	0.46614	1.455	0.80722	D	1	P	0.35612	0.512	B	0.34346	0.18	T	0.55988	-0.8053	9	.	.	.	.	10.5776	0.45235	0.743:0.0:0.0:0.257	.	254	P54762	EPHB1_HUMAN	A	254	ENSP00000381097:T254A	.	T	+	1	0	EPHB1	136153539	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.408000	0.80041	0.943000	0.37553	0.379000	0.24179	ACC		0.582	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		21	306	0	0	0	1	0	21	306				
SCAF1	58506	broad.mit.edu	37	19	50154615	50154615	+	Silent	SNP	C	C	T	rs372506690		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	323					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCGCCCGGACGCGCAGCCCA	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		7646	0.001		0.0	False		,,,				2504	0.0					ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(967-969)gaC>gaT		SR-related CTD-associated factor 1							18.0	19.0	19.0					19																	50154615		2198	4295	6493	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154615C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.969C>T	19.37:g.50154615C>T							p.D323D	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1093	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	323					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.969C>T	CCDS33074.1																																																																																				0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		13	14	0	0	0	1	0	13	14				
CHRD	8646	broad.mit.edu	37	3	184102332	184102332	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:184102332G>A	ENST00000204604.1	+	13	1694	c.1448G>A	c.(1447-1449)gGt>gAt	p.G483D	CHRD_ENST00000450923.1_Missense_Mutation_p.G483D|CHRD_ENST00000545352.1_Missense_Mutation_p.G113D|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.G443D	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	483	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.G196A(2)|p.G483A(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCGTGGGTATCTGCCCT	0.607																																						ENST00000204604.1																			4	Substitution - Missense(4)	p.G196A(2)|p.G483A(2)	lung(4)	NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1447-1449)gGt>gAt		chordin							101.0	111.0	108.0					3																	184102332		2203	4299	6502	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102332G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1448G>A	3.37:g.184102332G>A	ENSP00000204604:p.Gly483Asp					CHRD_ENST00000450923.1_Missense_Mutation_p.G483D|CHRD_ENST00000348986.3_Missense_Mutation_p.G443D|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.G113D	p.G483D	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1694	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		483			CHRD 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1448G>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254968	0.80135	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.58060	0.36;0.36;2.29;0.36	5.51	5.51	0.81932	CHRD (3);	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.994;0.995;0.998;0.997	T	0.75193	-0.3404	10	0.87932	D	0	-11.6697	11.8156	0.52209	0.0809:0.0:0.9191:0.0	.	113;443;483;483	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	D	483;483;443;113;196	ENSP00000204604:G483D;ENSP00000408972:G483D;ENSP00000334036:G443D;ENSP00000442948:G113D	ENSP00000204604:G483D	G	+	2	0	CHRD	185585026	1.000000	0.71417	0.990000	0.47175	0.960000	0.62799	8.861000	0.92277	2.765000	0.95021	0.655000	0.94253	GGT		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		62	334	0	0	0	1	0	62	334				
CYP4F2	8529	broad.mit.edu	37	19	15997110	15997110	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:15997110G>A	ENST00000221700.6	-	8	1022	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACTTCTTCCCGTCTTCATCCT	0.532																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(925-927)gaC>gaT		cytochrome P450, family 4, subfamily F, polypeptide 2							165.0	167.0	166.0					19																	15997110		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15997110G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.927C>T	19.37:g.15997110G>A						CYP4F2_ENST00000592328.1_Silent_p.D309D|CYP4F2_ENST00000011989.7_Intron	p.D309D	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			8	1022	-			309						Silent	SNP	ENST00000221700.6	37	c.927C>T	CCDS12336.1																																																																																				0.532	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		5	213	0	0	0	1	0	5	213				
LILRP2	79166	broad.mit.edu	37	19	55221837	55221837	+	RNA	SNP	G	G	C	rs548530569	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:55221837G>C	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		CTGGGGAGGTGTCAGCTCAGA	0.632													.|||	19	0.00379393	0.0015	0.0	5008	,	,		15943	0.001		0.0	False		,,,				2504	0.0164				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221837G>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221837G>C														0	1415	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.632	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	27	0	0	0	1	0	4	27				
VGLL3	389136	broad.mit.edu	37	3	87027679	87027679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:87027679G>A	ENST00000398399.2	-	2	763	c.400C>T	c.(400-402)Cga>Tga	p.R134*	VGLL3_ENST00000383698.3_Nonsense_Mutation_p.R134*	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTCTTACCTCGCCATAGGGGG	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(400-402)Cga>Tga		vestigial like 3 (Drosophila)							104.0	100.0	101.0					3																	87027679		1884	4118	6002	SO:0001587	stop_gained	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027679G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.400C>T	3.37:g.87027679G>A	ENSP00000381436:p.Arg134*					VGLL3_ENST00000383698.3_Nonsense_Mutation_p.R134*	p.R134*	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	763	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	134						Nonsense_Mutation	SNP	ENST00000398399.2	37	c.400C>T	CCDS43110.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.94|18.94	3.729937|3.729937	0.69074|0.69074	.|.	.|.	ENSG00000206538|ENSG00000206538	ENST00000494229|ENST00000398399;ENST00000383698	.|.	.|.	.|.	5.28|5.28	3.28|3.28	0.37604|0.37604	.|.	.|0.069103	.|0.56097	.|D	.|0.000026	T|.	0.35451|.	0.0932|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35251|.	-0.9796|.	3|.	.|0.02654	.|T	.|1	.|.	14.8687|14.8687	0.70437|0.70437	0.0:0.0:0.6425:0.3575|0.0:0.0:0.6425:0.3575	.|.	.|.	.|.	.|.	V|X	67|134	.|.	.|ENSP00000373199:R134X	A|R	-|-	2|1	0|2	VGLL3|VGLL3	87110369|87110369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	2.980000|2.980000	0.49321|0.49321	1.236000|1.236000	0.43740|0.43740	-0.219000|-0.219000	0.12488|0.12488	GCG|CGA		0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		36	69	0	0	0	1	0	36	69				
TTN	7273	broad.mit.edu	37	2	179588987	179588987	+	Splice_Site	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:179588987C>A	ENST00000591111.1	-	70	20388	c.20164G>T	c.(20164-20166)Gac>Tac	p.D6722Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D5795Y|TTN_ENST00000589042.1_Splice_Site_p.D7039Y|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12349					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)			CAGAACTAACCTGAAACATCA	0.388																																						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.e72+1		titin							49.0	47.0	48.0					2																	179588987		1904	4126	6030	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179588987C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20164+1G>T	2.37:g.179588987C>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site_p.D6722_splice|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.D5795_splice|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.D7039_splice	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)		72	21339	-			6722			Ig-like 52.		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	Splice_Site	SNP	ENST00000591111.1	37	c.21115_splice		.	.	.	.	.	.	.	.	.	.	C	12.72	2.021106	0.35701	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	6.02	6.02	0.97574	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76737	0.4029	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79055	-0.1960	8	.	.	.	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	6722	Q8WZ42	TITIN_HUMAN	Y	5795	ENSP00000343764:D5795Y	.	D	-	1	0	TTN	179297232	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	7.598000	0.82745	2.865000	0.98341	0.655000	0.94253	GAC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	6	28	1	0	5.9392e-07	1	6.47306e-07	6	28				
CASKIN1	57524	broad.mit.edu	37	16	2228601	2228601	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:2228601C>T	ENST00000343516.6	-	20	4338	c.4246G>A	c.(4246-4248)Ggc>Agc	p.G1416S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1416					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AACATGCTGCCGATGTCGTCC	0.741																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4246-4248)Ggc>Agc		CASK interacting protein 1							22.0	27.0	26.0					16																	2228601		2145	4268	6413	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2228601C>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4246G>A	16.37:g.2228601C>T	ENSP00000345436:p.Gly1416Ser						p.G1416S	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			20	4338	-			1416					Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.4246G>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031489	0.75504	.	.	ENSG00000167971	ENST00000343516	T	0.74315	-0.83	5.03	5.03	0.67393	.	.	.	.	.	T	0.79046	0.4380	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72646	-0.4230	9	0.07175	T	0.84	-24.0828	17.3347	0.87277	0.0:1.0:0.0:0.0	.	1416	Q8WXD9	CSKI1_HUMAN	S	1416	ENSP00000345436:G1416S	ENSP00000345436:G1416S	G	-	1	0	CASKIN1	2168602	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.952000	0.56691	2.327000	0.79052	0.393000	0.25936	GGC		0.741	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		14	27	0	0	0	1	0	14	27				
PTCH2	8643	broad.mit.edu	37	1	45288785	45288785	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:45288785C>T	ENST00000372192.3	-	21	3443	c.3313G>A	c.(3313-3315)Gtg>Atg	p.V1105M	PTCH2_ENST00000447098.2_Missense_Mutation_p.V1105M	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1105					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCAGCAGCACGAGTCCATGG	0.667									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3313-3315)Gtg>Atg		patched 2							75.0	71.0	72.0					1																	45288785		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288785C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3313G>A	1.37:g.45288785C>T	ENSP00000361266:p.Val1105Met					PTCH2_ENST00000372192.3_Missense_Mutation_p.V1105M	p.V1105M	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			21	3324	-	Acute lymphoblastic leukemia(166;0.155)		1105					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3313G>A	CCDS516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.76|13.76	2.332192|2.332192	0.41297|0.41297	.|.	.|.	ENSG00000117425|ENSG00000117425	ENST00000438067|ENST00000447098;ENST00000372192	.|D;D	.|0.85629	.|-2.01;-2.01	4.15|4.15	1.1|1.1	0.20463|0.20463	.|.	.|0.503835	.|0.16592	.|N	.|0.207712	T|T	0.81103|0.81103	0.4753|0.4753	M|M	0.68728|0.68728	2.09|2.09	0.33006|0.33006	D|D	0.5269|0.5269	.|B;B	.|0.25904	.|0.113;0.137	.|B;B	.|0.27608	.|0.048;0.081	T|T	0.77859|0.77859	-0.2431|-0.2431	5|10	.|0.56958	.|D	.|0.05	-0.4263|-0.4263	6.7388|6.7388	0.23424|0.23424	0.0:0.6859:0.1463:0.1677|0.0:0.6859:0.1463:0.1677	.|.	.|1105;1105	.|Q9Y6C5-2;Q9Y6C5	.|.;PTC2_HUMAN	H|M	25|1105	.|ENSP00000389703:V1105M;ENSP00000361266:V1105M	.|ENSP00000361266:V1105M	R|V	-|-	2|1	0|0	PTCH2|PTCH2	45061372|45061372	0.997000|0.997000	0.39634|0.39634	0.259000|0.259000	0.24435|0.24435	0.794000|0.794000	0.44872|0.44872	3.550000|3.550000	0.53691|0.53691	0.131000|0.131000	0.18576|0.18576	0.479000|0.479000	0.44913|0.44913	CGT|GTG		0.667	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		5	16	0	0	0	1	0	5	16				
PLB1	151056	broad.mit.edu	37	2	28805371	28805371	+	Splice_Site	SNP	A	A	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:28805371A>G	ENST00000327757.5	+	25	1776	c.1732A>G	c.(1732-1734)Agg>Ggg	p.R578G	PLB1_ENST00000422425.2_Splice_Site_p.R567G|PLB1_ENST00000329020.6_Splice_Site_p.R266G	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	578	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GATGATCCTCAGGTCAGACAG	0.507																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.e24+1		phospholipase B1							53.0	46.0	49.0					2																	28805371		2203	4300	6503	SO:0001630	splice_region_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28805371A>G		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1733+1A>G	2.37:g.28805371A>G						PLB1_ENST00000329020.6_Splice_Site_p.R266_splice|PLB1_ENST00000327757.5_Splice_Site_p.R578_splice	p.R567_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			24	1743	+	Acute lymphoblastic leukemia(172;0.155)		578			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37	c.1700_splice	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.980489	0.34942	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.13778	2.56;2.7;2.6;2.61	5.31	2.93	0.34026	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.357463	0.32608	N	0.005864	T	0.26557	0.0649	M	0.79475	2.455	0.80722	D	1	P;D;P;B	0.58970	0.837;0.984;0.936;0.114	P;P;P;B	0.59115	0.476;0.852;0.511;0.102	T	0.05818	-1.0862	10	0.23302	T	0.38	-4.8438	6.2067	0.20606	0.7439:0.1708:0.0854:0.0	.	567;578;266;578	Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.;.;.;PLB1_HUMAN	G	578;567;288;266	ENSP00000330442:R578G;ENSP00000416440:R567G;ENSP00000392493:R288G;ENSP00000330729:R266G	ENSP00000330442:R578G	R	+	1	2	PLB1	28658875	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	3.749000	0.55150	0.337000	0.23665	0.459000	0.35465	AGG		0.507	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Missense_Mutation	3	14	0	0	0	1	0	3	14				
PHF19	26147	broad.mit.edu	37	9	123620499	123620499	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:123620499C>T	ENST00000373896.3	-	15	1718	c.1466G>A	c.(1465-1467)cGg>cAg	p.R489Q	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.R280Q	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	489					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCTGCCCACCGCTTTGCCCG	0.597																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1465-1467)cGg>cAg		PHD finger protein 19							57.0	53.0	54.0					9																	123620499		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123620499C>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.1466G>A	9.37:g.123620499C>T	ENSP00000363003:p.Arg489Gln					PHF19_ENST00000419155.1_Missense_Mutation_p.R280Q|PHF19_ENST00000487555.1_5'UTR	p.R489Q	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			15	1718	-			489					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.1466G>A	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368731	0.61624	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155	T;T	0.53206	1.68;0.63	4.97	4.06	0.47325	.	0.645071	0.15479	N	0.260194	T	0.34019	0.0883	L	0.27053	0.805	0.33615	D	0.604005	B	0.15930	0.015	B	0.06405	0.002	T	0.38090	-0.9677	10	0.30078	T	0.28	-9.1979	11.1907	0.48683	0.0:0.908:0.0:0.092	.	489	Q5T6S3	PHF19_HUMAN	Q	489;489;280	ENSP00000363003:R489Q;ENSP00000407433:R280Q	ENSP00000363003:R489Q	R	-	2	0	PHF19	122660320	0.100000	0.21855	0.998000	0.56505	0.985000	0.73830	1.723000	0.38053	1.072000	0.40860	0.561000	0.74099	CGG		0.597	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		12	44	0	0	0	1	0	12	44				
USP37	57695	broad.mit.edu	37	2	219341590	219341590	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:219341590G>A	ENST00000258399.3	-	19	2428	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	USP37_ENST00000415516.1_Silent_p.N578N|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000418019.1_Silent_p.N672N|USP37_ENST00000454775.1_Silent_p.N672N	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	672	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2014-2016)aaC>aaT		ubiquitin specific peptidase 37							104.0	100.0	101.0					2																	219341590		2203	4300	6503	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219341590G>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2016C>T	2.37:g.219341590G>A						USP37_ENST00000418019.1_Silent_p.N672N|USP37_ENST00000454775.1_Silent_p.N672N|USP37_ENST00000415516.1_Silent_p.N578N	p.N672N	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	19	2428	-		Renal(207;0.0915)	672					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.2016C>T	CCDS2418.1																																																																																				0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		6	109	0	0	0	1	0	6	109				
SPATA7	55812	broad.mit.edu	37	14	88892837	88892837	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr14:88892837C>T	ENST00000393545.4	+	6	923	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	SPATA7_ENST00000556553.1_Missense_Mutation_p.R180W|SPATA7_ENST00000356583.5_Missense_Mutation_p.R180W|SPATA7_ENST00000045347.7_Missense_Mutation_p.R212W	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	212					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAATTCCCACCGGTTTCAGTT	0.502																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(538-540)Cgg>Tgg		spermatogenesis associated 7							63.0	63.0	63.0					14																	88892837		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88892837C>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.634C>T	14.37:g.88892837C>T	ENSP00000377176:p.Arg212Trp					SPATA7_ENST00000045347.7_Missense_Mutation_p.R212W|SPATA7_ENST00000356583.5_Missense_Mutation_p.R180W|SPATA7_ENST00000393545.4_Missense_Mutation_p.R212W	p.R180W			Q9P0W8	SPAT7_HUMAN			6	1097	+			212					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.538C>T	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414832	0.62511	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.34	-1.48	0.08745	.	0.750110	0.11495	N	0.558318	T	0.33352	0.0860	L	0.59436	1.845	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.65773	0.938;0.881;0.932	T	0.16158	-1.0412	10	0.87932	D	0	4.0E-4	5.7916	0.18363	0.6216:0.1965:0.1056:0.0763	.	180;180;212	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	W	180;212;180;198;212	ENSP00000451128:R180W;ENSP00000377176:R212W;ENSP00000348991:R180W;ENSP00000450606:R198W;ENSP00000045347:R212W	ENSP00000045347:R212W	R	+	1	2	SPATA7	87962590	0.013000	0.17824	0.098000	0.21074	0.957000	0.61999	1.710000	0.37920	0.028000	0.15324	-0.188000	0.12872	CGG		0.502	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			26	73	0	0	0	1	0	26	73				
HOXB3	3213	broad.mit.edu	37	17	46628230	46628230	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:46628230C>T	ENST00000470495.1	-	2	2209	c.762G>A	c.(760-762)tcG>tcA	p.S254S	HOXB3_ENST00000476342.1_Silent_p.S254S|HOXB3_ENST00000460160.1_Silent_p.S122S|HOXB3_ENST00000498678.1_Silent_p.S254S|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000490677.1_Silent_p.S120S|HOXB3_ENST00000472863.1_Silent_p.S181S|HOXB3_ENST00000489475.1_Silent_p.S181S|HOXB3_ENST00000311626.4_Silent_p.S254S|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000485909.2_Silent_p.S122S|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA			P14651	HXB3_HUMAN	homeobox B3	254					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCCCCGACGACGAGGCCAATC	0.627											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(760-762)tcG>tcA		homeobox B3							74.0	83.0	80.0					17																	46628230		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628230C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.762G>A	17.37:g.46628230C>T			OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000460160.1_Silent_p.S122S|HOXB3_ENST00000472863.1_Silent_p.S181S|HOXB3_ENST00000485909.2_Silent_p.S122S|HOXB3_ENST00000490677.1_Silent_p.S120S|HOXB3_ENST00000311626.4_Silent_p.S254S|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.S254S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.S181S|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.S254S	p.S254S			P14651	HXB3_HUMAN			2	2209	-			254					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.762G>A	CCDS11528.1																																																																																				0.627	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			80	129	0	0	0	1	0	80	129				
SMAD9	4093	broad.mit.edu	37	13	37453769	37453769	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:37453769T>C	ENST00000399275.2	-	1	197	c.58A>G	c.(58-60)Aga>Gga	p.R20G	SMAD9_ENST00000379826.4_Missense_Mutation_p.R20G|SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000350148.5_Missense_Mutation_p.R20G			O15198	SMAD9_HUMAN	SMAD family member 9	20	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CCTAGCAGTCTCTTCACTGCG	0.572																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(58-60)Aga>Gga		SMAD family member 9							60.0	65.0	63.0					13																	37453769		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453769T>C		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.58A>G	13.37:g.37453769T>C	ENSP00000382216:p.Arg20Gly					SMAD9_ENST00000350148.5_Missense_Mutation_p.R20G|SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_Missense_Mutation_p.R20G	p.R20G	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	400	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	20			MH1.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.58A>G	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137134	0.56936	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.75704	-0.96;-0.96;-0.96	5.53	1.55	0.23275	MAD homology, MH1 (3);	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	L	0.61036	1.89	0.58432	D	0.999999	B;P	0.35944	0.035;0.529	B;B	0.38921	0.042;0.285	T	0.70673	-0.4807	10	0.56958	D	0.05	.	13.6727	0.62436	0.0:0.0:0.5246:0.4754	.	20;20	O15198-2;O15198	.;SMAD9_HUMAN	G	20	ENSP00000382216:R20G;ENSP00000239885:R20G;ENSP00000369154:R20G	ENSP00000239885:R20G	R	-	1	2	SMAD9	36351769	1.000000	0.71417	0.997000	0.53966	0.579000	0.36224	2.465000	0.45075	0.036000	0.15547	-1.540000	0.00911	AGA		0.572	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		25	22	0	0	0	1	0	25	22				
LRRK2	120892	broad.mit.edu	37	12	40631814	40631814	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:40631814C>T	ENST00000298910.7	+	5	538	c.480C>T	c.(478-480)ttC>ttT	p.F160F	LRRK2_ENST00000343742.2_Silent_p.F160F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	160					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGATATTTTCATGTTAATTT	0.333																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(478-480)ttC>ttT		leucine-rich repeat kinase 2							104.0	104.0	104.0					12																	40631814		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40631814C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.480C>T	12.37:g.40631814C>T						LRRK2_ENST00000343742.2_Silent_p.F160F	p.F160F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			5	538	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	160					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.480C>T	CCDS31774.1																																																																																				0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		19	60	0	0	0	1	0	19	60				
GPR110	266977	broad.mit.edu	37	6	46977492	46977492	+	Missense_Mutation	SNP	G	G	A	rs144411523		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:46977492G>A	ENST00000371253.2	-	11	1894	c.1679C>T	c.(1678-1680)aCg>aTg	p.T560M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T363M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	560	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACATTGGCACGTCACGATGTC	0.468																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1678-1680)aCg>aTg		G protein-coupled receptor 110		G	MET/THR	1,4405	4.2+/-10.8	0,1,2202	141.0	120.0	127.0		1679	-11.2	0.0	6	dbSNP_134	127	0,8600		0,0,4300	no	missense	GPR110	NM_153840.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	560/911	46977492	1,13005	2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977492G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1679C>T	6.37:g.46977492G>A	ENSP00000360299:p.Thr560Met					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T363M	p.T560M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	1894	-			560			GPS.		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1679C>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	0.733	-0.779130	0.02929	2.27E-4	0.0	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.70282	-0.47;-0.47	5.58	-11.2	0.00127	GPS domain (3);	1.089200	0.07131	N	0.845580	T	0.42810	0.1219	L	0.54965	1.715	0.09310	N	1	B	0.19331	0.035	B	0.19391	0.025	T	0.32402	-0.9908	10	0.40728	T	0.16	1.2302	16.3219	0.82953	0.2072:0.0:0.7037:0.0891	.	560	Q5T601	GP110_HUMAN	M	560;560;363	ENSP00000360299:T560M;ENSP00000283297:T363M	ENSP00000283297:T363M	T	-	2	0	GPR110	47085451	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.241000	0.18065	-2.124000	0.00822	-1.327000	0.01280	ACG		0.468	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		22	55	0	0	0	1	0	22	55				
RIC3	79608	broad.mit.edu	37	11	8132425	8132425	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:8132425G>A	ENST00000309737.6	-	6	929	c.930C>T	c.(928-930)gaC>gaT	p.D310D	RIC3_ENST00000425599.2_Silent_p.D229D|RIC3_ENST00000396677.2_Silent_p.D148D|RIC3_ENST00000343202.4_Silent_p.D309D|RIC3_ENST00000335425.7_Silent_p.D128D|RIC3_ENST00000539720.1_Silent_p.D261D|RIC3_ENST00000530060.1_5'UTR			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	310					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGGATCCTCGTCTTCATGAA	0.488																																						ENST00000396677.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(442-444)gaC>gaT		RIC3 acetylcholine receptor chaperone							135.0	128.0	130.0					11																	8132425		2201	4296	6497	SO:0001819	synonymous_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132425G>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.930C>T	11.37:g.8132425G>A						RIC3_ENST00000309737.6_Silent_p.D310D|RIC3_ENST00000539720.1_Silent_p.D261D|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000425599.2_Silent_p.D229D|RIC3_ENST00000335425.7_Silent_p.D128D|RIC3_ENST00000343202.4_Silent_p.D309D	p.D148D			Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	3	443	-			310					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Silent	SNP	ENST00000309737.6	37	c.444C>T	CCDS55742.1																																																																																				0.488	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		55	81	0	0	0	1	0	55	81				
KIAA1755	85449	broad.mit.edu	37	20	36850871	36850871	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:36850871C>T	ENST00000279024.4	-	10	2668	c.2397G>A	c.(2395-2397)ctG>ctA	p.L799L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	799										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGAAGTCCAGCCTGCTGG	0.637											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2395-2397)ctG>ctA		KIAA1755							73.0	71.0	71.0					20																	36850871		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36850871C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2397G>A	20.37:g.36850871C>T			OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866		p.L799L	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			10	2668	-		Myeloproliferative disorder(115;0.00874)	799					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2397G>A	CCDS33467.1																																																																																				0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		34	62	0	0	0	1	0	34	62				
CIT	11113	broad.mit.edu	37	12	120128245	120128245	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:120128245C>T	ENST00000261833.7	-	46	5823	c.5771G>A	c.(5770-5772)cGa>cAa	p.R1924Q	CIT_ENST00000392521.2_Missense_Mutation_p.R1966Q|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1924					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGGTGGGCCTCGCTTGTTGGG	0.657																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(5896-5898)cGa>cAa		citron (rho-interacting, serine/threonine kinase 21)							23.0	19.0	21.0					12																	120128245		2200	4288	6488	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120128245C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5771G>A	12.37:g.120128245C>T	ENSP00000261833:p.Arg1924Gln					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1924Q	p.R1966Q	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	47	5952	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1924					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.5897G>A	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.765973|5.765973	0.96914|0.96914	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.76839	.|-0.85;-1.05	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87124|0.87124	0.6099|0.6099	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;D	.|0.76494	.|0.999;0.997;0.998	.|D;D;D	.|0.75484	.|0.978;0.968;0.986	D|D	0.87986|0.87986	0.2746|0.2746	5|10	.|0.87932	.|D	.|0	.|.	19.2859|19.2859	0.94069|0.94069	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1966;1924;1441	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	K|Q	1537|1966;1924	.|ENSP00000376306:R1966Q;ENSP00000261833:R1924Q	.|ENSP00000261833:R1924Q	E|R	-|-	1|2	0|0	CIT|CIT	118612628|118612628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.669000|7.669000	0.83911|0.83911	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.657	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		3	14	0	0	0	1	0	3	14				
RPRD2	23248	broad.mit.edu	37	1	150390155	150390155	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:150390155C>T	ENST00000369068.4	+	2	293	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	RPRD2_ENST00000539519.1_Missense_Mutation_p.R97C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.R97C|RPRD2_ENST00000369067.3_Missense_Mutation_p.R97C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	97	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R97S(4)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATCATATTCCGTGAATCATT	0.363																																						ENST00000401000.4																			4	Substitution - Missense(4)	p.R97S(4)	lung(4)	central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(289-291)Cgt>Tgt		regulation of nuclear pre-mRNA domain containing 2							178.0	164.0	168.0					1																	150390155		1860	4112	5972	SO:0001583	missense	23248						protein binding	g.chr1:150390155C>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.289C>T	1.37:g.150390155C>T	ENSP00000358064:p.Arg97Cys					RPRD2_ENST00000369067.3_Missense_Mutation_p.R97C|RPRD2_ENST00000539519.1_Missense_Mutation_p.R97C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R97C	p.R97C			Q5VT52	RPRD2_HUMAN			2	354	+			97			CID.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.289C>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304604	0.95601	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.52	5.52	0.82312	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.050402	0.85682	D	0.000000	T	0.60274	0.2256	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	P;P;D	0.85130	0.88;0.88;0.997	T	0.60332	-0.7284	10	0.56958	D	0.05	-0.4554	19.3847	0.94551	0.0:1.0:0.0:0.0	.	97;97;97	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	C	97	ENSP00000383785:R97C;ENSP00000445482:R97C;ENSP00000358063:R97C;ENSP00000358064:R97C	ENSP00000358063:R97C	R	+	1	0	RPRD2	148656779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.215000	0.77966	2.753000	0.94483	0.650000	0.86243	CGT		0.363	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		12	144	0	0	0	1	0	12	144				
TP53TG5	27296	broad.mit.edu	37	20	44003749	44003749	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:44003749C>T	ENST00000372726.3	-	4	854	c.698G>A	c.(697-699)cGt>cAt	p.R233H	TP53TG5_ENST00000537995.1_Missense_Mutation_p.R217H|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000494455.1_5'Flank	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	233					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTGACCCAACGCAGGGTGGA	0.597																																						ENST00000372726.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(697-699)cGt>cAt		TP53 target 5							66.0	64.0	65.0					20																	44003749		2203	4300	6503	SO:0001583	missense	27296				intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		g.chr20:44003749C>T	AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.698G>A	20.37:g.44003749C>T	ENSP00000361811:p.Arg233His					SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.R217H	p.R233H	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN			4	854	-			233						Missense_Mutation	SNP	ENST00000372726.3	37	c.698G>A	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895220	0.72639	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	T;T	0.30714	1.52;1.52	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	T	0.51907	0.1702	L	0.52011	1.625	0.49582	D	0.9998	D	0.89917	1.0	D	0.91635	0.999	T	0.47837	-0.9086	10	0.87932	D	0	-21.1043	17.197	0.86895	0.0:1.0:0.0:0.0	.	233	Q9Y2B4	T53G5_HUMAN	H	233;217	ENSP00000361811:R233H;ENSP00000438374:R217H	ENSP00000361811:R233H	R	-	2	0	TP53TG5	43437163	1.000000	0.71417	0.939000	0.37840	0.203000	0.24098	4.055000	0.57441	2.840000	0.97914	0.655000	0.94253	CGT		0.597	TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477		28	52	0	0	0	1	0	28	52				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			96610							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	23	0	0	0	1	0	3	23				
MAPK12	6300	broad.mit.edu	37	22	50693901	50693901	+	Silent	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:50693901C>T	ENST00000215659.8	-	10	1146	c.831G>A	c.(829-831)ctG>ctA	p.L277L	MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Silent_p.L187L	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTGCATTGGTCAGGATAGAGG	0.612																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(829-831)ctG>ctA		mitogen-activated protein kinase 12							72.0	72.0	72.0					22																	50693901		2203	4300	6503	SO:0001819	synonymous_variant	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50693901C>T	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.831G>A	22.37:g.50693901C>T						MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Silent_p.L187L	p.L277L	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	1146	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	277			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Silent	SNP	ENST00000215659.8	37	c.831G>A	CCDS14089.1																																																																																				0.612	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		28	70	0	0	0	1	0	28	70				
MUC5B	727897	broad.mit.edu	37	11	1272721	1272721	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:1272721C>A	ENST00000529681.1	+	31	14669	c.14611C>A	c.(14611-14613)Ctg>Atg	p.L4871M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L4874M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4871	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCTGGGAACAGC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14620-14622)Ctg>Atg		mucin 5B, oligomeric mucus/gel-forming							63.0	81.0	75.0					11																	1272721		2131	4230	6361	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272721C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14611C>A	11.37:g.1272721C>A	ENSP00000436812:p.Leu4871Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.L4871M	p.L4874M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14678	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4871			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14620C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	3.464	-0.109276	0.06924	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18657	2.2;2.39	2.15	-2.93	0.05598	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	P;P	0.44380	0.637;0.834	B;P	0.46110	0.367;0.504	T	0.31392	-0.9945	9	0.87932	D	0	.	11.5654	0.50802	0.0:0.727:0.273:0.0	.	5193;4874	A7Y9J9;E9PBJ0	.;.	M	4871;4874;4815;4570	ENSP00000436812:L4871M;ENSP00000415793:L4874M	ENSP00000343037:L4815M	L	+	1	2	MUC5B	1229297	0.006000	0.16342	0.000000	0.03702	0.009000	0.06853	0.810000	0.27183	-0.791000	0.04486	-0.754000	0.03487	CTG		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	95	1	0	1	1	1	4	95				
EPAS1	2034	broad.mit.edu	37	2	46605872	46605872	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:46605872T>A	ENST00000263734.3	+	11	2030	c.1520T>A	c.(1519-1521)aTg>aAg	p.M507K		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	507	NTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTTCGCCATGGACACAGAG	0.532																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1519-1521)aTg>aAg		endothelial PAS domain protein 1							141.0	131.0	134.0					2																	46605872		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46605872T>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1520T>A	2.37:g.46605872T>A	ENSP00000263734:p.Met507Lys						p.M507K	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		11	2030	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	507			NTAD.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1520T>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712453	0.68730	.	.	ENSG00000116016	ENST00000263734	T	0.47869	0.83	5.54	5.54	0.83059	.	0.186375	0.64402	D	0.000019	T	0.47838	0.1467	L	0.42245	1.32	0.48762	D	0.999707	P	0.46706	0.883	P	0.45428	0.48	T	0.51124	-0.8745	10	0.62326	D	0.03	.	15.6784	0.77349	0.0:0.0:0.0:1.0	.	507	Q99814	EPAS1_HUMAN	K	507	ENSP00000263734:M507K	ENSP00000263734:M507K	M	+	2	0	EPAS1	46459376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.255000	0.72466	2.114000	0.64651	0.528000	0.53228	ATG		0.532	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		4	75	0	0	0	1	0	4	75				
MMP1	4312	broad.mit.edu	37	11	102661499	102661499	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:102661499G>T	ENST00000315274.6	-	9	1302	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	412					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TATCATTTTGGGATAACCTGG	0.363																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1234-1236)cCc>cAc		matrix metallopeptidase 1 (interstitial collagenase)							200.0	189.0	193.0					11																	102661499		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102661499G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1235C>A	11.37:g.102661499G>T	ENSP00000322788:p.Pro412His					WTAPP1_ENST00000525739.2_RNA	p.P412H	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	9	1302	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	412			Hemopexin-like 3.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1235C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.650218	0.87958	.	.	ENSG00000196611	ENST00000315274	T	0.05786	3.39	5.82	5.82	0.92795	Hemopexin/matrixin (2);	0.183453	0.39274	N	0.001405	T	0.42899	0.1223	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62044	-0.6937	10	0.87932	D	0	.	19.0872	0.93209	0.0:0.0:1.0:0.0	.	412	P03956	MMP1_HUMAN	H	412	ENSP00000322788:P412H	ENSP00000322788:P412H	P	-	2	0	MMP1	102166709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.348000	0.79366	2.752000	0.94435	0.655000	0.94253	CCC		0.363	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		40	35	1	0	6.45866e-13	1	7.20103e-13	40	35				
USH1G	124590	broad.mit.edu	37	17	72915940	72915940	+	Missense_Mutation	SNP	G	G	A	rs373170645		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:72915940G>A	ENST00000319642.1	-	2	1173	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCATCCTCGCGGCCCAGTCCG	0.677																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(991-993)Cgc>Tgc		Usher syndrome 1G (autosomal recessive)		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	60.0	56.0		991	3.3	1.0	17		56	0,8596		0,0,4298	no	missense	USH1G	NM_173477.2	180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	331/462	72915940	1,13001	2203	4298	6501	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915940G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.991C>T	17.37:g.72915940G>A	ENSP00000320076:p.Arg331Cys						p.R331C	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1173	-	all_lung(278;0.172)|Lung NSC(278;0.207)		331					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.991C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072788	0.36566	2.27E-4	0.0	ENSG00000182040	ENST00000319642	T	0.71698	-0.59	4.34	3.31	0.37934	.	0.680143	0.14137	N	0.338996	T	0.55800	0.1943	L	0.29908	0.895	0.21473	N	0.999676	D	0.53151	0.958	B	0.38296	0.27	T	0.54695	-0.8255	10	0.62326	D	0.03	-12.7178	11.769	0.51947	0.0:0.0:0.6904:0.3096	.	331	Q495M9	USH1G_HUMAN	C	331	ENSP00000320076:R331C	ENSP00000320076:R331C	R	-	1	0	USH1G	70427535	0.970000	0.33590	0.994000	0.49952	0.921000	0.55340	3.124000	0.50461	2.275000	0.75901	0.555000	0.69702	CGC		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		40	100	0	0	0	1	0	40	100				
CDC42BPA	8476	broad.mit.edu	37	1	227261648	227261648	+	Silent	SNP	C	C	T	rs35017425	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:227261648C>T	ENST00000366769.3	-	19	3943	c.2652G>A	c.(2650-2652)tcG>tcA	p.S884S	CDC42BPA_ENST00000334218.5_Silent_p.S884S|CDC42BPA_ENST00000366767.3_Silent_p.S803S|CDC42BPA_ENST00000366765.3_Silent_p.S884S|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000535525.1_Silent_p.S884S|CDC42BPA_ENST00000366766.2_Silent_p.S884S|CDC42BPA_ENST00000366764.2_Silent_p.S884S	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.S884S(2)|p.S803S(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATCCAGAGCCGACTGCAACT	0.388													C|||	11	0.00219649	0.0	0.0029	5008	,	,		16063	0.0		0.008	False		,,,				2504	0.001					ENST00000366769.3																			3	Substitution - coding silent(3)	p.S884S(2)|p.S803S(1)	kidney(3)	NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(2650-2652)tcG>tcA		CDC42 binding protein kinase alpha (DMPK-like)		C	,	5,4401	9.9+/-24.2	0,5,2198	145.0	143.0	143.0		2652,2409	-11.4	0.2	1	dbSNP_126	143	44,8556	28.5+/-78.6	0,44,4256	no	coding-synonymous,coding-synonymous	CDC42BPA	NM_003607.3,NM_014826.4	,	0,49,6454	TT,TC,CC		0.5116,0.1135,0.3767	,	884/1720,803/1639	227261648	49,12957	2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227261648C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2652G>A	1.37:g.227261648C>T						CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366765.3_Silent_p.S884S|CDC42BPA_ENST00000366767.3_Silent_p.S803S|CDC42BPA_ENST00000535525.1_Silent_p.S884S|CDC42BPA_ENST00000366766.2_Silent_p.S884S|CDC42BPA_ENST00000366764.2_Silent_p.S884S|CDC42BPA_ENST00000334218.5_Silent_p.S884S	p.S884S	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			19	3943	-		all_cancers(173;0.156)|Prostate(94;0.0792)	884						Silent	SNP	ENST00000366769.3	37	c.2652G>A	CCDS1558.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	C	5.114	0.206661	0.09704	0.001135	0.005116	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43669	-0.9377	4	.	.	.	.	3.377	0.07241	0.3162:0.3866:0.1556:0.1415	rs35017425	.	.	.	S	87;178;58	.	.	G	-	1	0	CDC42BPA	225328271	0.445000	0.25657	0.187000	0.23214	0.578000	0.36192	-0.440000	0.06888	-3.006000	0.00274	-2.272000	0.00274	GGC		0.388	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		53	112	0	0	0	1	0	53	112				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	98	1	0	0.00024832	1	0.000267634	4	98				
DLGAP4	22839	broad.mit.edu	37	20	35075162	35075162	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:35075162G>A	ENST00000373907.2	+	6	1669	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	DLGAP4_ENST00000339266.5_Silent_p.A490A|DLGAP4_ENST00000401952.2_Silent_p.A490A|DLGAP4_ENST00000373913.3_Silent_p.A490A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	490					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGTGAAGCGGAGTCCACAG	0.642																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1468-1470)gcG>gcA		discs, large (Drosophila) homolog-associated protein 4							48.0	34.0	39.0					20																	35075162		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35075162G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1470G>A	20.37:g.35075162G>A						DLGAP4_ENST00000339266.5_Silent_p.A490A|DLGAP4_ENST00000373907.2_Silent_p.A490A|DLGAP4_ENST00000401952.2_Silent_p.A490A	p.A490A			Q9Y2H0	DLGP4_HUMAN			7	1950	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	490					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1470G>A																																																																																					0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		10	16	0	0	0	1	0	10	16				
FAM135B	51059	broad.mit.edu	37	8	139163803	139163803	+	Missense_Mutation	SNP	A	A	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr8:139163803A>G	ENST00000395297.1	-	13	3085	c.2915T>C	c.(2914-2916)gTg>gCg	p.V972A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	972										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GAAGGCATTCACTCCTCTATT	0.493										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2914-2916)gTg>gCg		family with sequence similarity 135, member B							137.0	110.0	119.0					8																	139163803		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163803A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2915T>C	8.37:g.139163803A>G	ENSP00000378710:p.Val972Ala	HNSCC(54;0.14)					p.V972A	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3085	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		972					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2915T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	3.203	-0.163207	0.06502	.	.	ENSG00000147724	ENST00000395297	T	0.12672	2.66	5.24	-1.31	0.09230	.	1.308140	0.04971	N	0.463917	T	0.02888	0.0086	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.37220	-0.9715	10	0.06625	T	0.88	0.0041	3.5072	0.07695	0.4347:0.0:0.2606:0.3047	.	972;972;972	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	A	972	ENSP00000378710:V972A	ENSP00000276737:V972A	V	-	2	0	FAM135B	139232985	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.686000	0.25392	-0.340000	0.08388	-0.899000	0.02877	GTG		0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		55	97	0	0	0	1	0	55	97				
ABCB8	11194	broad.mit.edu	37	7	150737925	150737925	+	Missense_Mutation	SNP	C	C	T	rs561955380		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:150737925C>T	ENST00000297504.6	+	13	1516	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C	ABCB8_ENST00000498578.1_Missense_Mutation_p.R467C|ABCB8_ENST00000358849.4_Missense_Mutation_p.R467C|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000542328.1_Missense_Mutation_p.R379C			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	484	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CTACCCCTGCCGCCCCGGCTT	0.672																																						ENST00000358849.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1399-1401)Cgc>Tgc		ATP-binding cassette, sub-family B (MDR/TAP), member 8							10.0	11.0	11.0					7																	150737925		2188	4286	6474	SO:0001583	missense	11194					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr7:150737925C>T	AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1450C>T	7.37:g.150737925C>T	ENSP00000297504:p.Arg484Cys					ABCB8_ENST00000498578.1_Missense_Mutation_p.R467C|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.R484C|ABCB8_ENST00000542328.1_Missense_Mutation_p.R379C	p.R467C	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	1492	+			484					A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37	c.1399C>T		.	.	.	.	.	.	.	.	.	.	C	19.37	3.813751	0.70912	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	4.4	3.51	0.40186	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	M	0.64630	1.985	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;0.998;0.997;0.999	D	0.93497	0.6841	10	0.87932	D	0	7.622	11.6244	0.51136	0.178:0.822:0.0:0.0	.	379;467;484;467	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	C	467;450;484;379;467	ENSP00000351717:R467C;ENSP00000297504:R484C;ENSP00000438776:R379C;ENSP00000418271:R467C	ENSP00000297504:R484C	R	+	1	0	ABCB8	150368858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.521000	0.53472	1.037000	0.40024	0.462000	0.41574	CGC		0.672	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		5	9	0	0	0	1	0	5	9				
ARHGEF39	84904	broad.mit.edu	37	9	35665131	35665131	+	Silent	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:35665131C>A	ENST00000378387.3	-	1	153	c.36G>T	c.(34-36)gtG>gtT	p.V12V	ARHGEF39_ENST00000343259.3_Silent_p.V12V|ARHGEF39_ENST00000378395.2_Intron|ARHGEF39_ENST00000490970.1_5'UTR	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	12					positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										GCTGCTCTTGCACCGGGCACC	0.687																																						ENST00000378387.3																			0											c.(34-36)gtG>gtT		Rho guanine nucleotide exchange factor (GEF) 39							9.0	9.0	9.0					9																	35665131		2156	4204	6360	SO:0001819	synonymous_variant	84904							g.chr9:35665131C>A	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.36G>T	9.37:g.35665131C>A						ARHGEF39_ENST00000343259.3_Silent_p.V12V|ARHGEF39_ENST00000378395.2_Intron|ARHGEF39_ENST00000490970.1_5'UTR	p.V12V	NM_032818.2	NP_116207.2					1	153	-								Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	ENST00000378387.3	37	c.36G>T	CCDS6584.2																																																																																				0.687	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		3	5	1	0	0.00909568	1	0.00948689	3	5				
MUC4	4585	broad.mit.edu	37	3	195491938	195491938	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:195491938G>A	ENST00000346145.4	-	9	1185	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	MUC4_ENST00000475231.1_Silent_p.G4566G|MUC4_ENST00000349607.4_Silent_p.G331G|MUC4_ENST00000463781.3_Silent_p.G4618G	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1375					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCAGCACACGCCTCCTCGCC	0.647																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(13852-13854)ggC>ggT		mucin 4, cell surface associated							45.0	43.0	43.0					3																	195491938		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195491938G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1146C>T	3.37:g.195491938G>A						MUC4_ENST00000349607.4_Silent_p.G331G|MUC4_ENST00000346145.4_Silent_p.G382G|MUC4_ENST00000475231.1_Silent_p.G4566G	p.G4618G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	10	14313	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1375					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.13854C>T	CCDS3310.1																																																																																				0.647	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		13	85	0	0	0	1	0	13	85				
DNAJA1	3301	broad.mit.edu	37	9	33036573	33036573	+	Splice_Site	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:33036573C>T	ENST00000330899.4	+	7	943	c.760C>T	c.(760-762)Cga>Tga	p.R254*	DNAJA1_ENST00000544625.1_Splice_Site_p.R97*|DNAJA1_ENST00000495015.1_3'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	254					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TTTATGCAGACGAGGAGAAGA	0.378																																						ENST00000330899.4																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.e7-1		DnaJ (Hsp40) homolog, subfamily A, member 1							69.0	66.0	67.0					9																	33036573		2203	4300	6503	SO:0001630	splice_region_variant	3301				protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding	g.chr9:33036573C>T	L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.759-1C>T	9.37:g.33036573C>T						DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Splice_Site_p.R97_splice	p.R254_splice	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)	7	943	+			254					Q5T7Q0|Q86TL9	Splice_Site	SNP	ENST00000330899.4	37	c.758_splice	CCDS6533.1	.	.	.	.	.	.	.	.	.	.	C	37	6.290011	0.97444	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	.	.	.	5.19	5.19	0.71726	.	0.149224	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.673	11.6429	0.51244	0.1774:0.8226:0.0:0.0	.	.	.	.	X	254;97;97	.	ENSP00000369127:R254X	R	+	1	2	DNAJA1	33026573	0.989000	0.36119	0.996000	0.52242	0.953000	0.61014	2.299000	0.43611	2.582000	0.87167	0.591000	0.81541	CGA		0.378	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052031.1		Nonsense_Mutation	9	42	0	0	0	1	0	9	42				
SLC6A9	6536	broad.mit.edu	37	1	44475695	44475695	+	Silent	SNP	G	G	A	rs140834307		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:44475695G>A	ENST00000360584.2	-	4	671	c.480C>T	c.(478-480)ttC>ttT	p.F160F	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Silent_p.F22F|SLC6A9_ENST00000357730.2_Silent_p.F106F|SLC6A9_ENST00000372306.3_Silent_p.F87F|SLC6A9_ENST00000372310.3_Silent_p.F87F|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Silent_p.F22F	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	160					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CAAACTGGCCGAAGGAGAGCT	0.592																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(259-261)ttC>ttT		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)	G	,,	1,4405	2.1+/-5.4	0,1,2202	74.0	77.0	76.0		261,318,480	-2.2	1.0	1	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A9	NM_001024845.1,NM_006934.2,NM_201649.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	87/634,106/653,160/707	44475695	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44475695G>A	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.480C>T	1.37:g.44475695G>A						SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Silent_p.F22F|SLC6A9_ENST00000537678.1_Silent_p.F22F|SLC6A9_ENST00000360584.2_Silent_p.F160F|SLC6A9_ENST00000357730.2_Silent_p.F106F|SLC6A9_ENST00000372306.3_Silent_p.F87F|SLC6A9_ENST00000492434.2_5'UTR	p.F87F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			4	426	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	160					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.261C>T	CCDS41317.1																																																																																				0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		49	30	0	0	0	1	0	49	30				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	100130935							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	79	1	0	5.9392e-07	1	6.47306e-07	5	79				
GPR107	57720	broad.mit.edu	37	9	132889813	132889813	+	Missense_Mutation	SNP	G	G	A	rs199776309		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:132889813G>A	ENST00000372406.1	+	18	2059	c.1552G>A	c.(1552-1554)Gct>Act	p.A518T	GPR107_ENST00000372410.3_Missense_Mutation_p.A489T|GPR107_ENST00000347136.6_Missense_Mutation_p.A470T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	518						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CCTCAAACTCGCTGTTCCATT	0.418																																						ENST00000372406.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1552-1554)Gct>Act		G protein-coupled receptor 107		G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	151.0	123.0	132.0		1552,1465,1408	5.6	1.0	9		132	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	GPR107	NM_001136557.1,NM_001136558.1,NM_020960.4	58,58,58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign	518/601,489/572,470/553	132889813	3,13003	2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132889813G>A	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1552G>A	9.37:g.132889813G>A	ENSP00000361483:p.Ala518Thr					GPR107_ENST00000372410.3_Missense_Mutation_p.A489T|GPR107_ENST00000347136.6_Missense_Mutation_p.A470T	p.A518T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN			18	2059	+		Ovarian(14;0.000531)	518					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.1552G>A	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320477	0.41096	0.0	3.49E-4	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.20463	2.08;2.07;2.07	5.6	5.6	0.85130	.	0.245607	0.35067	N	0.003473	T	0.22742	0.0549	N	0.11892	0.195	0.34226	D	0.675924	D;D;D	0.69078	0.975;0.997;0.975	P;P;P	0.61658	0.56;0.892;0.482	T	0.01956	-1.1240	10	0.02654	T	1	-16.6462	18.2059	0.89854	0.0:0.0:1.0:0.0	.	489;518;470	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	T	518;470;489	ENSP00000361483:A518T;ENSP00000336988:A470T;ENSP00000361487:A489T	ENSP00000336988:A470T	A	+	1	0	GPR107	131929634	0.992000	0.36948	0.955000	0.39395	0.958000	0.62258	4.411000	0.59781	2.642000	0.89623	0.655000	0.94253	GCT		0.418	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2			4	71	0	0	0	1	0	4	71				
VGLL4	9686	broad.mit.edu	37	3	11744452	11744452	+	De_novo_Start_InFrame	SNP	G	G	A	rs368803680		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:11744452G>A	ENST00000404339.1	-	0	407				VGLL4_ENST00000273038.3_Silent_p.D19D			Q14135	VGLL4_HUMAN	vestigial-like family member 4						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TACGTTTTTCGTCATCAGCAT	0.398																																						ENST00000404339.1																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10								vestigial like 4 (Drosophila)		G		3,4403	6.2+/-15.9	0,3,2200	62.0	63.0	63.0		57	-3.0	0.9	3		63	0,8600		0,0,4300	no	coding-synonymous	VGLL4	NM_014667.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		19/291	11744452	3,13003	2203	4300	6503			9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744452G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739		3.37:g.11744452G>A						VGLL4_ENST00000273038.3_Silent_p.D19D				Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	0	407	-								B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Translation_Start_Site	SNP	ENST00000404339.1	37																																																																																						0.398	VGLL4-201	KNOWN	basic	protein_coding	protein_coding		NM_014667		18	36	0	0	0	1	0	18	36				
SF3B2	10992	broad.mit.edu	37	11	65827389	65827389	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:65827389G>A	ENST00000322535.6	+	13	1587	c.1538G>A	c.(1537-1539)gGc>gAc	p.G513D	SF3B2_ENST00000528302.1_Missense_Mutation_p.G496D	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	513					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TACCTGCAGGGCAAACGGGGC	0.592																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1486-1488)gGc>gAc		splicing factor 3b, subunit 2, 145kDa							91.0	80.0	84.0					11																	65827389		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65827389G>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1538G>A	11.37:g.65827389G>A	ENSP00000318861:p.Gly513Asp					SF3B2_ENST00000322535.6_Missense_Mutation_p.G513D	p.G496D			Q13435	SF3B2_HUMAN			12	1541	+			513					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.1487G>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368521	0.95900	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.96	0.96718	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90015	0.4124	9	0.87932	D	0	-10.9317	17.913	0.88940	0.0:0.0:1.0:0.0	.	513	Q13435	SF3B2_HUMAN	D	496;513;417	.	ENSP00000318861:G513D	G	+	2	0	SF3B2	65583965	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.469000	0.80959	2.831000	0.97527	0.650000	0.86243	GGC		0.592	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			4	104	0	0	0	1	0	4	104				
MAP2	4133	broad.mit.edu	37	2	210565034	210565034	+	Missense_Mutation	SNP	T	T	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:210565034T>A	ENST00000360351.4	+	10	5062	c.4556T>A	c.(4555-4557)gTa>gAa	p.V1519E	MAP2_ENST00000361559.4_Missense_Mutation_p.V163E|MAP2_ENST00000392194.1_Missense_Mutation_p.V163E|MAP2_ENST00000447185.1_Missense_Mutation_p.V1515E|MAP2_ENST00000199940.6_Missense_Mutation_p.V163E|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1519					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCTCCCAGTGTATTTAAACAG	0.358																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4555-4557)gTa>gAa		microtubule-associated protein 2	Estramustine(DB01196)						131.0	132.0	131.0					2																	210565034		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210565034T>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4556T>A	2.37:g.210565034T>A	ENSP00000353508:p.Val1519Glu					MAP2_ENST00000447185.1_Missense_Mutation_p.V1515E|MAP2_ENST00000361559.4_Missense_Mutation_p.V163E|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.V163E|MAP2_ENST00000392194.1_Missense_Mutation_p.V163E	p.V1519E	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	10	5062	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1519					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4556T>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798789	0.50208	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T	0.46063	1.93;3.07;2.31;2.31;3.07;0.88	5.56	2.73	0.32206	.	0.738721	0.12072	N	0.502142	T	0.23532	0.0569	N	0.19112	0.55	0.33098	D	0.538822	B;B;B;B;B	0.32717	0.328;0.062;0.011;0.381;0.201	B;B;B;B;B	0.34873	0.191;0.032;0.008;0.138;0.014	T	0.27502	-1.0072	10	0.02654	T	1	-4.5821	8.0333	0.30478	0.0:0.2741:0.0:0.7259	.	1515;163;164;1519;163	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	E	163;1519;163;163;1515;89	ENSP00000199940:V163E;ENSP00000353508:V1519E;ENSP00000355290:V163E;ENSP00000376032:V163E;ENSP00000392164:V1515E;ENSP00000388824:V89E	ENSP00000199940:V163E	V	+	2	0	MAP2	210273279	0.923000	0.31300	1.000000	0.80357	0.997000	0.91878	0.619000	0.24388	0.728000	0.32382	0.460000	0.39030	GTA		0.358	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		44	81	0	0	0	1	0	44	81				
PCDH9	5101	broad.mit.edu	37	13	67802212	67802212	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr13:67802212C>A	ENST00000377865.2	-	1	495	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	PCDH9_ENST00000544246.1_Missense_Mutation_p.D121Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.D121Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D121Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D121Y			Q9HC56	PCDH9_HUMAN	protocadherin 9	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGAAGAAATCATTGGGGAGG	0.403																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(361-363)Gat>Tat		protocadherin 9							83.0	84.0	84.0					13																	67802212		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802212C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.361G>T	13.37:g.67802212C>A	ENSP00000367096:p.Asp121Tyr					PCDH9_ENST00000328454.5_Missense_Mutation_p.D121Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.D121Y|PCDH9_ENST00000456367.1_Missense_Mutation_p.D121Y|PCDH9_ENST00000377861.3_Missense_Mutation_p.D121Y	p.D121Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1052	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	121			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.361G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343129	0.41498	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.94	5.94	0.96194	Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.69078	0.988;0.995;0.997;0.995	P;P;D;P	0.68192	0.805;0.862;0.956;0.905	T	0.06625	-1.0816	10	0.87932	D	0	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	121;121;121;121	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	Y	121	ENSP00000442186:D121Y;ENSP00000367096:D121Y;ENSP00000401699:D121Y;ENSP00000332060:D121Y;ENSP00000367092:D121Y	ENSP00000332060:D121Y	D	-	1	0	PCDH9	66700213	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.999000	0.70665	2.816000	0.96949	0.561000	0.74099	GAT		0.403	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	67	1	0	0.014758	1	0.0150687	5	67				
GABRA2	2555	broad.mit.edu	37	4	46334667	46334667	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:46334667C>T	ENST00000510861.1	-	4	393	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M|GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M|GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M|GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	74					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAACTGGTCACGTAGATGTTA	0.343																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(220-222)Gtg>Atg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						87.0	91.0	89.0					4																	46334667		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46334667C>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.220G>A	4.37:g.46334667C>T	ENSP00000421828:p.Val74Met					GABRA2_ENST00000356504.1_Missense_Mutation_p.V74M|GABRA2_ENST00000381620.4_Missense_Mutation_p.V74M|GABRA2_ENST00000515082.1_Missense_Mutation_p.V74M|GABRA2_ENST00000514090.1_Missense_Mutation_p.V74M|GABRA2_ENST00000507069.1_Missense_Mutation_p.V74M|GABRA2_ENST00000540012.1_Intron	p.V74M			P47869	GBRA2_HUMAN			4	393	-			74					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.220G>A	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816786	0.70912	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.91561	3.22	0.80722	D	1	P;D	0.65815	0.927;0.995	B;P	0.52109	0.394;0.69	D	0.91349	0.5103	10	0.87932	D	0	.	15.8633	0.79043	0.0:1.0:0.0:0.0	.	74;74	G5E9Z6;P47869	.;GBRA2_HUMAN	M	74	ENSP00000421828:V74M;ENSP00000421300:V74M;ENSP00000371033:V74M;ENSP00000348897:V74M;ENSP00000427603:V74M;ENSP00000423840:V74M;ENSP00000424362:V74M;ENSP00000424093:V74M	ENSP00000348897:V74M	V	-	1	0	GABRA2	46029424	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.472000	0.66768	2.678000	0.91216	0.650000	0.86243	GTG		0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			37	41	0	0	0	1	0	37	41				
FAT3	120114	broad.mit.edu	37	11	92577212	92577212	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:92577212C>A	ENST00000298047.6	+	18	10696	c.10679C>A	c.(10678-10680)aCc>aAc	p.T3560N	FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Missense_Mutation_p.T3410N|FAT3_ENST00000409404.2_Missense_Mutation_p.T3560N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3560	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCATTGTCACCATGGAGGAT	0.493										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10678-10680)aCc>aAc		FAT atypical cadherin 3							164.0	164.0	164.0					11																	92577212		1952	4151	6103	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577212C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10679C>A	11.37:g.92577212C>A	ENSP00000298047:p.Thr3560Asn	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.T3560N|FAT3_ENST00000525166.1_Missense_Mutation_p.T3410N	p.T3560N			Q8TDW7	FAT3_HUMAN			18	10696	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3560			Cadherin 33.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10679C>A		.	.	.	.	.	.	.	.	.	.	C	22.8	4.338250	0.81911	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.38077	1.16;1.16;1.16	5.62	5.62	0.85841	.	.	.	.	.	T	0.48750	0.1517	N	0.21373	0.66	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.48779	-0.9005	9	0.52906	T	0.07	.	19.6523	0.95822	0.0:1.0:0.0:0.0	.	3560	Q8TDW7-3	.	N	3560;3560;3410	ENSP00000298047:T3560N;ENSP00000387040:T3560N;ENSP00000432586:T3410N	ENSP00000298047:T3560N	T	+	2	0	FAT3	92216860	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.931000	0.63469	2.650000	0.89964	0.561000	0.74099	ACC		0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		70	69	1	0	2.165e-29	1	2.50006e-29	70	69				
DOK6	220164	broad.mit.edu	37	18	67231825	67231825	+	Missense_Mutation	SNP	C	C	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:67231825C>A	ENST00000382713.5	+	2	359	c.169C>A	c.(169-171)Cat>Aat	p.H57N	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	57	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CAGAAACTTTCATAAGGTAAG	0.408																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(169-171)Cat>Aat		docking protein 6							52.0	52.0	52.0					18																	67231825		2203	4299	6502	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67231825C>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.169C>A	18.37:g.67231825C>A	ENSP00000372160:p.His57Asn					RP11-465I4.2_ENST00000583991.1_RNA	p.H57N	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			2	359	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	57			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.169C>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406091	0.62288	.	.	ENSG00000206052	ENST00000382713	T	0.74947	-0.89	6.06	6.06	0.98353	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.75838	0.3904	L	0.50333	1.59	0.80722	D	1	B	0.25048	0.117	B	0.34931	0.192	T	0.71543	-0.4561	10	0.56958	D	0.05	-18.3651	19.6279	0.95687	0.0:1.0:0.0:0.0	.	57	Q6PKX4	DOK6_HUMAN	N	57	ENSP00000372160:H57N	ENSP00000372160:H57N	H	+	1	0	DOK6	65382805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.428000	0.80296	2.880000	0.98712	0.650000	0.86243	CAT		0.408	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		20	44	1	0	2.37509e-13	1	2.67888e-13	20	44				
FCGR3A	2214	broad.mit.edu	37	1	161518268	161518268	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:161518268T>C	ENST00000436743.1	-	4	416	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	FCGR3A_ENST00000443193.1_Missense_Mutation_p.R123G|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R88G|FCGR3A_ENST00000367969.3_Missense_Mutation_p.R124G	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	88	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCTGGCACCTGTACTCTCCA	0.522																																						ENST00000367969.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(370-372)Agg>Ggg		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						224.0	208.0	214.0					1																	161518268		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518268T>C	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.262A>G	1.37:g.161518268T>C	ENSP00000416607:p.Arg88Gly					FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.R123G|FCGR3A_ENST00000436743.1_Missense_Mutation_p.R88G|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R88G	p.R124G	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	553	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		88			Ig-like C2-type 2.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.370A>G	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277092	0.59758	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	T;T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54;2.54	4.43	0.387	0.16259	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.052930	0.07469	N	0.901985	T	0.19805	0.0476	M	0.73319	2.225	0.20638	N	0.999879	D;D;D	0.69078	0.983;0.997;0.997	P;P;D	0.70487	0.76;0.855;0.969	T	0.11542	-1.0583	10	0.87932	D	0	.	9.7381	0.40401	0.0:0.0:0.5552:0.4448	.	88;123;88	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	G	124;123;88;88;88;87	ENSP00000356946:R124G;ENSP00000392047:R123G;ENSP00000416607:R88G;ENSP00000356944:R88G;ENSP00000444971:R88G;ENSP00000396567:R87G	ENSP00000356944:R88G	R	-	1	2	FCGR3A	159784892	0.019000	0.18553	0.204000	0.23530	0.810000	0.45777	-0.261000	0.08694	0.290000	0.22444	0.482000	0.46254	AGG		0.522	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		13	248	0	0	0	1	0	13	248				
CELSR1	9620	broad.mit.edu	37	22	46859707	46859707	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr22:46859707G>A	ENST00000262738.3	-	2	4079	c.4080C>T	c.(4078-4080)tgC>tgT	p.C1360C	CELSR1_ENST00000395964.1_Silent_p.C1360C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1360	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCCGTCTCGCAGTAGTCGC	0.706																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4078-4080)tgC>tgT		cadherin, EGF LAG seven-pass G-type receptor 1							34.0	33.0	34.0					22																	46859707		2198	4298	6496	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859707G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4080C>T	22.37:g.46859707G>A						CELSR1_ENST00000395964.1_Silent_p.C1360C	p.C1360C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4079	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1360			EGF-like 1; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4080C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314014	0.23908	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.75	1.44	0.22558	.	.	.	.	.	T	0.54902	0.1887	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43605	-0.9381	4	.	.	.	.	7.6932	0.28579	0.4877:0.0:0.5123:0.0	.	.	.	.	V	735	.	.	A	-	2	0	CELSR1	45238371	0.803000	0.28956	1.000000	0.80357	0.973000	0.67179	-0.068000	0.11561	0.086000	0.17137	-0.136000	0.14681	GCG		0.706	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	11	0	0	0	1	0	9	11				
PYGM	5837	broad.mit.edu	37	11	64514211	64514211	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:64514211T>C	ENST00000164139.3	-	20	2847	c.2449A>G	c.(2449-2451)Acc>Gcc	p.T817A	PYGM_ENST00000377432.3_Missense_Mutation_p.T729A|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000394432.3_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	817					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGCAATGGTGCGGTCACTG	0.617																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2449-2451)Acc>Gcc		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						109.0	105.0	107.0					11																	64514211		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514211T>C		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2449A>G	11.37:g.64514211T>C	ENSP00000164139:p.Thr817Ala					PYGM_ENST00000377432.3_Missense_Mutation_p.T729A	p.T817A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			20	2847	-			817					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.2449A>G	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137018	0.77775	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93859	-3.3;-3.3	4.39	4.39	0.52855	.	0.000000	0.48286	D	0.000200	D	0.95166	0.8433	M	0.76002	2.32	0.80722	D	1	B;P	0.52463	0.235;0.953	B;P	0.58970	0.287;0.849	D	0.94776	0.7949	10	0.49607	T	0.09	-35.9624	11.6045	0.51024	0.0:0.0:0.0:1.0	.	729;817	A6NDY6;P11217	.;PYGM_HUMAN	A	729;817;798	ENSP00000366650:T729A;ENSP00000164139:T817A	ENSP00000164139:T817A	T	-	1	0	PYGM	64270787	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.805000	0.86005	1.858000	0.53909	0.379000	0.24179	ACC		0.617	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		24	44	0	0	0	1	0	24	44				
TMEM165	55858	broad.mit.edu	37	4	56291574	56291574	+	Silent	SNP	G	G	A	rs368593849		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr4:56291574G>A	ENST00000381334.5	+	6	1163	c.930G>A	c.(928-930)gcG>gcA	p.A310A	TMEM165_ENST00000506198.1_Silent_p.A115A|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000542052.1_Silent_p.A247A	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	310					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTTTTTGGCGTTTGCATTTT	0.313																																						ENST00000381334.5																			0				endometrium(1)|kidney(1)|large_intestine(2)	4						c.(928-930)gcG>gcA		transmembrane protein 165		G		0,4404		0,0,2202	243.0	227.0	232.0		930	-7.5	0.7	4		232	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TMEM165	NM_018475.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		310/325	56291574	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	55858					integral to membrane		g.chr4:56291574G>A	AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.930G>A	4.37:g.56291574G>A						TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Silent_p.A115A|TMEM165_ENST00000542052.1_Silent_p.A247A	p.A310A	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)		6	1163	+	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		310					A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Silent	SNP	ENST00000381334.5	37	c.930G>A	CCDS3499.1																																																																																				0.313	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250646.4	NM_018475		32	85	0	0	0	1	0	32	85				
HNRNPM	4670	broad.mit.edu	37	19	8550898	8550898	+	Missense_Mutation	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:8550898T>C	ENST00000325495.4	+	14	1627	c.1586T>C	c.(1585-1587)aTg>aCg	p.M529T	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M490T	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	529	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGCCTGAGCATGGAGCGCATG	0.687																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1468-1470)aTg>aCg		heterogeneous nuclear ribonucleoprotein M							48.0	51.0	50.0					19																	8550898		2203	4297	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550898T>C	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1586T>C	19.37:g.8550898T>C	ENSP00000325376:p.Met529Thr					HNRNPM_ENST00000325495.4_Missense_Mutation_p.M529T	p.M490T	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1701	+			529			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1469T>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753853	0.69648	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.15139	2.45;2.77	5.62	5.62	0.85841	.	0.073512	0.85682	D	0.000000	T	0.27765	0.0683	M	0.65498	2.005	0.46044	D	0.998837	P;P;D;P	0.56968	0.907;0.652;0.978;0.93	B;B;P;B	0.47402	0.258;0.16;0.546;0.304	T	0.03969	-1.0988	10	0.87932	D	0	.	14.6399	0.68717	0.0:0.0:0.0:1.0	.	369;529;490;414	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	T	529;490;414;86	ENSP00000325376:M529T;ENSP00000325732:M490T	ENSP00000325376:M529T	M	+	2	0	HNRNPM	8456898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.253000	0.78320	2.133000	0.65898	0.482000	0.46254	ATG		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			53	57	0	0	0	1	0	53	57				
KATNB1	10300	broad.mit.edu	37	16	57775607	57775607	+	Missense_Mutation	SNP	G	G	A	rs191188396	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:57775607G>A	ENST00000379661.3	+	3	441	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGAAGAGATCGTCGCGCATGC	0.647													g|||	2	0.000399361	0.0	0.0	5008	,	,		16955	0.002		0.0	False		,,,				2504	0.0					ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(49-51)Gtc>Atc		katanin p80 (WD repeat containing) subunit B 1		G	ILE/VAL	0,4396		0,0,2198	80.0	72.0	75.0		49	5.0	1.0	16		75	1,8599		0,1,4299	yes	missense	KATNB1	NM_005886.2	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	17/656	57775607	1,12995	2198	4300	6498	SO:0001583	missense	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57775607G>A	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.49G>A	16.37:g.57775607G>A	ENSP00000368982:p.Val17Ile						p.V17I	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			3	441	+		all_neural(199;0.223)	17			Interaction with centrosomes.|Interaction with dynein (By similarity).			Missense_Mutation	SNP	ENST00000379661.3	37	c.49G>A	CCDS10788.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	21.3	4.128257	0.77549	0.0	1.16E-4	ENSG00000140854	ENST00000379661	T	0.59638	0.25	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060880	0.64402	D	0.000004	T	0.50701	0.1631	L	0.47016	1.485	0.58432	D	0.999998	P	0.35328	0.495	B	0.29598	0.104	T	0.56360	-0.7992	10	0.54805	T	0.06	-16.3452	16.8827	0.86067	0.0:0.0:1.0:0.0	.	17	Q9BVA0	KTNB1_HUMAN	I	17	ENSP00000368982:V17I	ENSP00000368982:V17I	V	+	1	0	KATNB1	56333108	1.000000	0.71417	0.995000	0.50966	0.934000	0.57294	6.169000	0.71913	2.321000	0.78463	0.655000	0.94253	GTC		0.647	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			4	58	0	0	0	1	0	4	58				
PDE4D	5144	broad.mit.edu	37	5	59284456	59284456	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr5:59284456C>T	ENST00000502484.2	-	3	354	c.131G>A	c.(130-132)cGc>cAc	p.R44H	PDE4D_ENST00000546160.1_Missense_Mutation_p.R44H	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R44P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CTGAATATTGCGACATGAAAG	0.483																																						ENST00000502484.2																			1	Substitution - Missense(1)	p.R44P(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(130-132)cGc>cAc		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						166.0	151.0	155.0					5																	59284456		1568	3582	5150	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284456C>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.131G>A	5.37:g.59284456C>T	ENSP00000423094:p.Arg44His					PDE4D_ENST00000546160.1_Missense_Mutation_p.R44H	p.R44H	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	354	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0			Pro-rich.		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000502484.2	37	c.131G>A	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101303	0.94245	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.69175	-0.38;-0.38	5.71	5.71	0.89125	.	.	.	.	.	D	0.83681	0.5307	.	.	.	0.39578	D	0.969391	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.984	D	0.85069	0.0939	8	0.59425	D	0.04	.	19.8467	0.96710	0.0:1.0:0.0:0.0	.	44;44	D6RIG1;Q08499-11	.;.	H	44	ENSP00000423094:R44H;ENSP00000442734:R44H	ENSP00000423094:R44H	R	-	2	0	PDE4D	59320213	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	6.632000	0.74281	2.696000	0.92011	0.585000	0.79938	CGC		0.483	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			4	123	0	0	0	1	0	4	123				
NBPF1	55672	broad.mit.edu	37	1	16890531	16890531	+	Silent	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr1:16890531G>A	ENST00000430580.2	-	29	4214	c.3327C>T	c.(3325-3327)atC>atT	p.I1109I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1089	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGCGAAGCTGATGTGCTGTT	0.458																																						ENST00000430580.2																			0											c.(3325-3327)atC>atT		neuroblastoma breakpoint family, member 1							758.0	653.0	688.0					1																	16890531		2203	4300	6503	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16890531G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3327C>T	1.37:g.16890531G>A							p.I1109I	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	29	4214	-			1089			NBPF 7.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.3327C>T																																																																																					0.458	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		85	851	0	0	0	1	0	85	851				
PPIP5K1	9677	broad.mit.edu	37	15	43873475	43873475	+	Missense_Mutation	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr15:43873475G>T	ENST00000396923.3	-	8	1010	c.889C>A	c.(889-891)Ctg>Atg	p.L297M	PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L297M|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L297M|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.L297M			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	297					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						ATGGCAGTCAGCATGACTGGA	0.507																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(889-891)Ctg>Atg		diphosphoinositol pentakisphosphate kinase 1							161.0	142.0	149.0					15																	43873475		2198	4296	6494	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43873475G>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.889C>A	15.37:g.43873475G>T	ENSP00000380129:p.Leu297Met					PPIP5K1_ENST00000334933.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.L297M|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.L297M|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.L297M|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.L297M	p.L297M	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			9	1071	-			297					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.889C>A	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856111	0.51376	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806;ENST00000335092	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.06;0.56;-0.06;-0.15;-0.15;-0.1;0.56	4.74	3.82	0.43975	.	0.000000	0.64402	D	0.000004	D	0.83261	0.5216	H	0.94925	3.6	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.87018	0.2127	10	0.87932	D	0	-7.5513	12.1813	0.54214	0.0841:0.0:0.9159:0.0	.	297;297;297;297	Q6PFW1-7;Q6PFW1;Q6PFW1-2;Q6PFW1-3	.;VIP1_HUMAN;.;.	M	297;297;297;297;297;297;297;297;297;297;298	ENSP00000371309:L297M;ENSP00000353446:L297M;ENSP00000353253:L297M;ENSP00000334779:L297M;ENSP00000380129:L297M;ENSP00000400887:L297M;ENSP00000371303:L297M;ENSP00000308773:L297M	ENSP00000304750:L297M	L	-	1	2	PPIP5K1	41660767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.740000	0.62087	1.176000	0.42840	0.644000	0.83932	CTG		0.507	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		5	209	1	0	0.014758	1	0.0150687	5	209				
UCKL1	54963	broad.mit.edu	37	20	62577277	62577277	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr20:62577277C>T	ENST00000354216.6	-	4	505	c.463G>A	c.(463-465)Gac>Aac	p.D155N	UCKL1_ENST00000369892.3_Missense_Mutation_p.D155N|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Missense_Mutation_p.D155N|UCKL1_ENST00000369908.5_Missense_Mutation_p.D140N	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	155					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTGGGTGGTCGAAGTTGAAG	0.567																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(418-420)Gac>Aac		uridine-cytidine kinase 1-like 1							297.0	274.0	282.0					20																	62577277		2203	4300	6503	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577277C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.463G>A	20.37:g.62577277C>T	ENSP00000346155:p.Asp155Asn					UCKL1_ENST00000369892.3_Missense_Mutation_p.D155N|UCKL1_ENST00000358711.3_Missense_Mutation_p.D155N|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000354216.6_Missense_Mutation_p.D155N	p.D140N	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			4	717	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		155					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.418G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.602399	0.87157	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.63	5.63	0.86233	Phosphoribulokinase/uridine kinase (1);	0.046932	0.85682	D	0.000000	D	0.89876	0.6842	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92891	0.6331	9	0.87932	D	0	-43.5404	17.8538	0.88756	0.0:1.0:0.0:0.0	.	140;155	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	N	155;155;155;140	.	ENSP00000346155:D155N	D	-	1	0	UCKL1	62047721	1.000000	0.71417	0.995000	0.50966	0.262000	0.26303	7.394000	0.79862	2.660000	0.90430	0.486000	0.48141	GAC		0.567	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		64	119	0	0	0	1	0	64	119				
ZNF763	284390	broad.mit.edu	37	19	12088965	12088965	+	Nonsense_Mutation	SNP	G	G	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:12088965G>T	ENST00000358987.3	+	4	353	c.226G>T	c.(226-228)Gaa>Taa	p.E76*	ZNF763_ENST00000343949.5_Nonsense_Mutation_p.E79*|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000591944.1_3'UTR|ZNF763_ENST00000592625.1_3'UTR			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TGAAATTAAAGAAGACAGTCA	0.373																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(235-237)Gaa>Taa		zinc finger protein 763							97.0	102.0	100.0					19																	12088965		2199	4299	6498	SO:0001587	stop_gained	284390							g.chr19:12088965G>T	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.226G>T	19.37:g.12088965G>T	ENSP00000402017:p.Glu76*					ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000358987.3_Nonsense_Mutation_p.E76*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E96*|ZNF763_ENST00000591944.1_3'UTR	p.E79*	NM_001012753.1	NP_001012771.1					4	390	+								B3KRU3|B4DRE7	Nonsense_Mutation	SNP	ENST00000358987.3	37	c.235G>T		.	.	.	.	.	.	.	.	.	.	g	12.00	1.806434	0.31961	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	.	.	.	0.864	-0.273	0.12915	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	3.0741	0.06241	0.3495:0.0:0.6505:0.0	.	.	.	.	X	96;79;76	.	ENSP00000369774:E79X	E	+	1	0	ZNF763	11949965	0.010000	0.17322	0.003000	0.11579	0.095000	0.18619	0.139000	0.16036	-0.082000	0.12640	0.195000	0.17529	GAA		0.373	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		60	131	1	0	8.3131e-28	1	9.48671e-28	60	131				
PDE10A	10846	broad.mit.edu	37	6	165827146	165827146	+	Missense_Mutation	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr6:165827146G>A	ENST00000366882.1	-	14	1245	c.1091C>T	c.(1090-1092)aCg>aTg	p.T364M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T374M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T364M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	364	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GATGTTCCGCGTGGTGTAGCC	0.478																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1090-1092)aCg>aTg		phosphodiesterase 10A	Dipyridamole(DB00975)						87.0	70.0	76.0					6																	165827146		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165827146G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1091C>T	6.37:g.165827146G>A	ENSP00000355847:p.Thr364Met					PDE10A_ENST00000539869.2_Missense_Mutation_p.T374M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T364M	p.T364M			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	14	1245	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	364			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1091C>T		.	.	.	.	.	.	.	.	.	.	G	30	5.057772	0.93846	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68903	-0.36;-0.36	5.63	5.63	0.86233	GAF (2);	0.000000	0.85682	U	0.000000	D	0.87621	0.6223	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90911	0.4776	10	0.66056	D	0.02	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	374;364	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	364;392;374;364;363	ENSP00000355847:T364M;ENSP00000346435:T364M	ENSP00000341187:T374M	T	-	2	0	PDE10A	165747136	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.242000	0.95408	2.652000	0.90054	0.655000	0.94253	ACG		0.478	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			11	46	0	0	0	1	0	11	46				
CDH2	1000	broad.mit.edu	37	18	25572701	25572701	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:25572701C>T	ENST00000269141.3	-	9	1685	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	CDH2_ENST00000399380.3_Missense_Mutation_p.R390K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	421	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R421T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCACTGATTCTGTACACTGC	0.517																																						ENST00000269141.3																			1	Substitution - Missense(1)	p.R421T(1)	lung(1)	NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1261-1263)aGa>aAa		cadherin 2, type 1, N-cadherin (neuronal)							225.0	173.0	191.0					18																	25572701		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572701C>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1262G>A	18.37:g.25572701C>T	ENSP00000269141:p.Arg421Lys					CDH2_ENST00000399380.3_Missense_Mutation_p.R390K	p.R421K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1685	-			421			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1262G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506737	0.26949	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.51071	0.72;0.72	5.39	3.58	0.41010	Cadherin (4);Cadherin-like (1);	0.161242	0.56097	D	0.000035	T	0.34395	0.0896	L	0.37561	1.115	0.38387	D	0.945297	B;B	0.06786	0.001;0.0	B;B	0.18561	0.022;0.021	T	0.16453	-1.0402	10	0.10636	T	0.68	.	12.0472	0.53487	0.0:0.7999:0.0:0.2001	.	390;421	A8MWK3;P19022	.;CADH2_HUMAN	K	421;390	ENSP00000269141:R421K;ENSP00000382312:R390K	ENSP00000269141:R421K	R	-	2	0	CDH2	23826699	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	2.532000	0.45659	1.397000	0.46682	0.655000	0.94253	AGA		0.517	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		45	97	0	0	0	1	0	45	97				
PNKP	11284	broad.mit.edu	37	19	50365330	50365330	+	Missense_Mutation	SNP	C	C	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:50365330C>T	ENST00000322344.3	-	13	1268	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000600573.1_Missense_Mutation_p.V356M|PNKP_ENST00000600910.1_Missense_Mutation_p.V387M|AC018766.5_ENST00000601893.1_RNA|PNKP_ENST00000596014.1_Missense_Mutation_p.V387M|AC018766.4_ENST00000596624.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	387	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCGGCCGACACGAGGTGCTTC	0.597								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1159-1161)Gtg>Atg	Other BER factors	polynucleotide kinase 3'-phosphatase							65.0	62.0	63.0					19																	50365330		2203	4300	6503	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365330C>T	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1159G>A	19.37:g.50365330C>T	ENSP00000323511:p.Val387Met					PNKP_ENST00000600573.1_Missense_Mutation_p.V356M|PNKP_ENST00000596014.1_Missense_Mutation_p.V387M|PNKP_ENST00000600910.1_Missense_Mutation_p.V387M	p.V387M	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	13	1268	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	387					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.1159G>A	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889647	0.52014	.	.	ENSG00000039650	ENST00000322344	T	0.42513	0.97	4.29	4.29	0.51040	.	0.176924	0.38897	N	0.001527	T	0.56485	0.1988	M	0.64997	1.995	0.34791	D	0.735722	D;D	0.76494	0.999;0.999	D;D	0.63957	0.92;0.92	T	0.67348	-0.5693	10	0.45353	T	0.12	-26.5364	12.1064	0.53816	0.0:1.0:0.0:0.0	.	348;387	Q9BUL2;Q96T60	.;PNKP_HUMAN	M	387	ENSP00000323511:V387M	ENSP00000323511:V387M	V	-	1	0	PNKP	55057142	0.822000	0.29219	0.480000	0.27341	0.301000	0.27625	1.380000	0.34351	2.213000	0.71641	0.561000	0.74099	GTG		0.597	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		12	52	0	0	0	1	0	12	52				
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		phosphatase and tensin homolog							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1745	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		43	44	0	0	0	1	0	43	44				
ASXL3	80816	broad.mit.edu	37	18	31319923	31319923	+	Missense_Mutation	SNP	T	T	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr18:31319923T>G	ENST00000269197.5	+	11	2555	c.2555T>G	c.(2554-2556)aTt>aGt	p.I852S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	852					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGCTTCAATTCCAGAACTT	0.398																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(2554-2556)aTt>aGt		additional sex combs like 3 (Drosophila)							74.0	73.0	73.0					18																	31319923		1874	4112	5986	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319923T>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2555T>G	18.37:g.31319923T>G	ENSP00000269197:p.Ile852Ser						p.I852S	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			11	2555	+			852					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2555T>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	3.577	-0.086504	0.07097	.	.	ENSG00000141431	ENST00000269197	T	0.15834	2.39	6.04	6.04	0.98038	.	1.295790	0.04963	N	0.462396	T	0.12518	0.0304	N	0.19112	0.55	0.28305	N	0.922955	B	0.23316	0.083	B	0.16289	0.015	T	0.28713	-1.0035	10	0.07644	T	0.81	.	10.8542	0.46789	0.0:0.0698:0.0:0.9302	.	852	Q9C0F0	ASXL3_HUMAN	S	852	ENSP00000269197:I852S	ENSP00000269197:I852S	I	+	2	0	ASXL3	29573921	0.176000	0.23096	0.778000	0.31720	0.092000	0.18411	2.523000	0.45580	2.317000	0.78254	0.460000	0.39030	ATT		0.398	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			12	44	0	0	0	1	0	12	44				
PKD1L2	114780	broad.mit.edu	37	16	81236230	81236230	+	RNA	SNP	G	G	A			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr16:81236230G>A	ENST00000525539.1	-	0	1017				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCTTGTCTCGCACGGTCACC	0.577																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1018-1020)Cga>Tga		polycystic kidney disease 1-like 2							59.0	65.0	63.0					16																	81236230		2182	4275	6457			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236230G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236230G>A						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.R340*			Q7Z442	PK1L2_HUMAN			6	1017	-			340					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Nonsense_Mutation	SNP	ENST00000525539.1	37	c.1018C>T		.	.	.	.	.	.	.	.	.	.	G	16.10	3.027168	0.54683	.	.	ENSG00000166473	ENST00000337114	.	.	.	4.74	-3.51	0.04696	.	0.699166	0.13764	N	0.364352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6223	1.3483	0.02168	0.3124:0.1047:0.3699:0.213	.	.	.	.	X	340	.	ENSP00000337397:R340X	R	-	1	2	PKD1L2	79793731	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.740000	0.26188	-0.375000	0.07955	-0.182000	0.12963	CGA		0.577	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			26	47	0	0	0	1	0	26	47				
MUC17	140453	broad.mit.edu	37	7	100681342	100681342	+	Silent	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:100681342T>C	ENST00000306151.4	+	3	6709	c.6645T>C	c.(6643-6645)ccT>ccC	p.P2215P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2215	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCAACTCCTAGTGAAGGAA	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6643-6645)ccT>ccC		mucin 17, cell surface associated							342.0	337.0	339.0					7																	100681342		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681342T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6645T>C	7.37:g.100681342T>C							p.P2215P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6709	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2215			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6645T>C	CCDS34711.1																																																																																				0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		26	651	0	0	0	1	0	26	651				
SCYL2	55681	broad.mit.edu	37	12	100732394	100732394	+	Missense_Mutation	SNP	C	C	G			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:100732394C>G	ENST00000360820.2	+	18	2671	c.2234C>G	c.(2233-2235)aCt>aGt	p.T745S		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	745	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GCTTCAAGTACTTTCACTTCT	0.388																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(2233-2235)aCt>aGt		SCY1-like 2 (S. cerevisiae)							115.0	105.0	109.0					12																	100732394		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732394C>G	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2234C>G	12.37:g.100732394C>G	ENSP00000354061:p.Thr745Ser						p.T745S	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			18	2671	+			745			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.2234C>G	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	C	2.193	-0.384801	0.04966	.	.	ENSG00000136021	ENST00000360820	T	0.29397	1.57	5.77	4.83	0.62350	.	0.705117	0.15802	N	0.243906	T	0.12518	0.0304	N	0.04880	-0.145	0.42704	D	0.993621	B	0.02656	0.0	B	0.01281	0.0	T	0.10590	-1.0623	10	0.02654	T	1	.	9.5698	0.39420	0.1172:0.5155:0.3674:0.0	.	745	Q6P3W7	SCYL2_HUMAN	S	745	ENSP00000354061:T745S	ENSP00000354061:T745S	T	+	2	0	SCYL2	99256525	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.323000	0.43823	2.890000	0.99128	0.585000	0.79938	ACT		0.388	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		16	105	0	0	0	1	0	16	105				
NLRP8	126205	broad.mit.edu	37	19	56473487	56473487	+	Silent	SNP	T	T	C			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:56473487T>C	ENST00000291971.3	+	4	2168	c.2097T>C	c.(2095-2097)ttT>ttC	p.F699F	NLRP8_ENST00000590542.1_Silent_p.F699F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	699					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTCTGTGTTTGCAACGAATG	0.512																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2095-2097)ttT>ttC		NLR family, pyrin domain containing 8							214.0	182.0	193.0					19																	56473487		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56473487T>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2097T>C	19.37:g.56473487T>C						NLRP8_ENST00000590542.1_Silent_p.F699F	p.F699F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	4	2168	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	699					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2097T>C	CCDS12937.1																																																																																				0.512	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		42	106	0	0	0	1	0	42	106				
SLC17A8	246213	broad.mit.edu	37	12	100774587	100774587	+	Silent	SNP	C	C	T	rs374356596		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr12:100774587C>T	ENST00000323346.5	+	2	523	c.210C>T	c.(208-210)tgC>tgT	p.C70C	SLC17A8_ENST00000392989.3_Silent_p.C70C	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	70					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCACTGCTGCGGCCTCCCCA	0.537																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(208-210)tgC>tgT		solute carrier family 17 (vesicular glutamate transporter), member 8		C	,	0,4406		0,0,2203	154.0	146.0	149.0		210,210	-5.3	0.7	12		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC17A8	NM_001145288.1,NM_139319.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/540,70/590	100774587	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774587C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.210C>T	12.37:g.100774587C>T						SLC17A8_ENST00000392989.3_Silent_p.C70C	p.C70C	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			2	523	+			70					B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	ENST00000323346.5	37	c.210C>T	CCDS9077.1																																																																																				0.537	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		4	127	0	0	0	1	0	4	127				
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			3	4						3	4	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:108682418_108682419insT	ENST00000483760.1	-	26	2621_2622	c.2578_2579insA	c.(2578-2580)atafs	p.I860fs	MORC1_ENST00000232603.5_Frame_Shift_Ins_p.I881fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2641-2643)aaafs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682418_108682419insT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2579dupA	3.37:g.108682427_108682427dupT	ENSP00000417282:p.Ile860fs					MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	p.K881fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			27	2723_2724	-			881						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.2641_2642insA																																																																																					0.287	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	155						7	155	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|RP11-134F2.2_ENST00000455926.1_RNA	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		8	242						8	242	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102916153	102916153	+	RNA	DEL	A	A	-	rs200650237		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr7:102916153delA	ENST00000312132.4	-	0	705							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										AGAAAGCCATAAAAAAGAAAA	0.229																																						ENST00000312132.4																			0																																																			349152							g.chr7:102916153delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102916153delA														0	705	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.229	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		2	4						2	4	---	---	---	---
ZBTB5	9925	broad.mit.edu	37	9	37440997	37440999	+	In_Frame_Del	DEL	AGA	AGA	-	rs375939862|rs41278303		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr9:37440997_37440999delAGA	ENST00000307750.4	-	2	1738_1740	c.1550_1552delTCT	c.(1549-1554)ttctcc>tcc	p.F517del		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ATTACCCTGGAGAAGGAGGAGTG	0.547																																						ENST00000307750.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(1549-1554)tcc>t		zinc finger and BTB domain containing 5																																				SO:0001651	inframe_deletion	9925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:37440997_37440999delAGA	AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1550_1552delTCT	9.37:g.37440997_37440999delAGA	ENSP00000307604:p.Phe517del						p.FS517del	NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN		GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)	2	1738_1740	-			517						In_Frame_Del	DEL	ENST00000307750.4	37	c.1550_1552delTCT	CCDS6610.1																																																																																				0.547	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052462.1	NM_014872		12	26						12	26	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		4	3						4	3	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739																																						ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(412-414)del		trypsin domain containing 1			,	28,3524		5,18,1753					,	3.1	1.0			5	76,7040		14,48,3496	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	19,66,5249	A1A1,A1R,RR		1.068,0.7883,0.9749	,	,		104,10564				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905929_71905931delCAG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.412_414delCTG	10.37:g.71905938_71905940delCAG	ENSP00000287078:p.Leu138del					TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	411_413	-			138					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.412_414delCTG	CCDS31213.1																																																																																				0.739	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			399881							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		6	7						6	7	---	---	---	---
WHAMMP3	339005	broad.mit.edu	37	15	23208083	23208083	+	RNA	DEL	G	G	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr15:23208083delG	ENST00000400153.2	-	0	334					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GCCTCCCACCGGGTCCCAGGC	0.761																																						ENST00000400153.2																			0																																																			339005							g.chr15:23208083delG	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23208083delG								NR_003521.1						0	334	-								Q1A5X8|Q52M16|Q52M18	RNA	DEL	ENST00000400153.2	37																																																																																						0.761	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		2	4						2	4	---	---	---	---
BCKDHA	593	broad.mit.edu	37	19	41929045	41929045	+	Frame_Shift_Del	DEL	A	A	-			TCGA-T2-A6X0-01A-11D-A34J-08	TCGA-T2-A6X0-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae30a637-d259-4a76-801f-dd8746973f1f	f9c28240-c1cc-4069-b19d-73b3eab246d5	g.chr19:41929045delA	ENST00000269980.2	+	8	1506	c.1138delA	c.(1138-1140)aagfs	p.K380fs	BCKDHA_ENST00000457836.2_Frame_Shift_Del_p.K383fs|CTC-435M10.3_ENST00000540732.1_Frame_Shift_Del_p.K414fs|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank|BCKDHA_ENST00000595085.1_Frame_Shift_Del_p.K414fs	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	380					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGAGCAGGAGAAGGCCTGGAG	0.637																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(1138-1140)agfs		branched chain keto acid dehydrogenase E1, alpha polypeptide							52.0	51.0	52.0					19																	41929045		2179	4265	6444	SO:0001589	frameshift_variant	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41929045delA	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.1138delA	19.37:g.41929045delA	ENSP00000269980:p.Lys380fs					BCKDHA_ENST00000595085.1_Frame_Shift_Del_p.K414fs|BCKDHA_ENST00000457836.2_Frame_Shift_Del_p.K383fs|CTC-435M10.3_ENST00000540732.1_Frame_Shift_Del_p.K414fs	p.K380fs	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			8	1506	+			380					B4DP47|E7EW46|Q16034|Q16472	Frame_Shift_Del	DEL	ENST00000269980.2	37	c.1138delA	CCDS12581.1																																																																																				0.637	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		2	4						2	4	---	---	---	---
